Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu)	SNV Germline	Chr2:47475130	Pathogenic	Lynch syndrome 1 Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA019478	rs_28929483	7 SubmittersRCV000001823 RCV000076307 RCV000630204 RCV000566777 RCV002460877
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)	SNV Germline	Chr2:47429881	Pathogenic	Lynch syndrome 1 Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Muir-Torré syndrome Mismatch repair cancer syndrome 1 Lynch syndrome 1 Gastric cancer	Reviewed By Expert Panel	CA017519	rs_63751108	27 SubmittersRCV000001825 RCV000030238 RCV000162489 RCV000202291 RCV000524334 RCV000677885 RCV000763491 RCV003162204
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr)	SNV Germline	Chr2:47475180	Pathogenic	Lynch syndrome 1 Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA019553	rs_28929484	9 SubmittersRCV000001826 RCV000030246 RCV000202104 RCV000491611 RCV001204094 RCV003987305
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter)	SNV Germline	Chr2:47475066	Pathogenic	Muir-Torré syndrome Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1	Reviewed By Expert Panel	CA019344	rs_63750047	10 SubmittersRCV000001828 RCV000076290 RCV000428558 RCV000491732 RCV000809096 RCV003450612
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)	SNV Germline	Chr2:47466718	Likely pathogenic	Lynch syndrome 1 Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA018643	rs_63751207	11 SubmittersRCV000001829 RCV000076197 RCV000165648 RCV000256140 RCV000531855 RCV001251063
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)	SNV Germline	Chr2:47475171	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 1 Lynch syndrome 1 Carcinoma of colon	Reviewed By Expert Panel	CA019533	rs_63750875	23 SubmittersRCV000030245 RCV000130428 RCV000202220 RCV000524366 RCV000376757 RCV000763493 RCV001353396
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)	SNV Germline	Chr7:6002590	Pathogenic	Mismatch repair cancer syndrome 4 Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 4 Mismatch repair cancer syndrome 1 Lynch syndrome 1 Gastric cancer Lynch syndrome 4 Mismatch repair cancer syndrome 4	Reviewed By Expert Panel	CA012083	rs_63750871	23 SubmittersRCV000009815 RCV000076872 RCV000115695 RCV000212842 RCV000524474 RCV000576870 RCV001196700 RCV001310204 RCV003162222 RCV005042023
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)	SNV Germline	Chr7:5977629	Pathogenic	Mismatch repair cancer syndrome 1 Hereditary cancer-predisposing syndrome Lynch syndrome Lynch syndrome 4 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 4 Rhabdomyosarcoma Hereditary nonpolyposis colon cancer PMS2-related disorder Inherited MMR deficiency (Lynch syndrome) Lynch syndrome 4 Mismatch repair cancer syndrome 4	Reviewed By Expert Panel	CA011441	rs_63751466	23 SubmittersRCV000009818 RCV000129304 RCV000076858 RCV000409056 RCV000413126 RCV000524467 RCV001267876 RCV001257544 RCV002265552 RCV003415681 RCV004691719 RCV005031433
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)	SNV Germline	Chr7:5986883	Pathogenic	Lynch syndrome 4 Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA010399	rs_63750451	20 SubmittersRCV000009823 RCV000076834 RCV000218575 RCV000220439 RCV000524451 RCV001193819
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	SNV Germline	Chr7:6005918	Likely pathogenic	Mismatch repair cancer syndrome 1 Lynch syndrome 4 Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Pituitary carcinoma Endometrial carcinoma Mismatch repair cancer syndrome 4 Lynch syndrome 1 Breast and/or ovarian cancer PMS2-related disorder Lynch syndrome 4 Mismatch repair cancer syndrome 4 PMS2-related cancer disorders Dilated cardiomyopathy 1G Hypertrophic cardiomyopathy 9 Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA009597	rs_121434629	51 SubmittersRCV000009826 RCV000056324 RCV000076807 RCV000115657 RCV000200994 RCV000524432 RCV000722017 RCV001353458 RCV001267878 RCV001804723 RCV001797999 RCV003390667 RCV002476951 RCV003335023 RCV004555831 RCV004691720
NM_000249.4(MLH1):c.131C>T (p.Ser44Phe)	SNV Germline	Chr3:36996633	Pathogenic	Lynch syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA004973	rs_63751109	4 SubmittersRCV000075169 RCV001269530 RCV000018608 RCV002381257
NM_000249.4(MLH1):c.986A>C (p.His329Pro)	SNV Germline	Chr3:37020411	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA013465	rs_63750710	5 SubmittersRCV000018614 RCV000075954 RCV000215121 RCV005089272
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)	SNV Germline/somatic	Chr3:37012098	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch-like syndrome Mismatch repair cancer syndrome 1 Breast and/or ovarian cancer Muir-Torré syndrome Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA011496	rs_63751615	25 SubmittersRCV000018616 RCV000075801 RCV000115485 RCV000202205 RCV000524311 RCV001093685 RCV001249951 RCV001267883 RCV003149572 RCV003137535 RCV006449941
NM_000249.4(MLH1):c.199G>T (p.Gly67Trp)	SNV Germline	Chr3:36996701	Pathogenic	Lynch syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008112	rs_63750206	4 SubmittersRCV000075475 RCV001267885 RCV000018618 RCV002415421
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)	SNV Germline/somatic	Chr3:37004444	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Lynch syndrome 1 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch-like syndrome Endometrial carcinoma Colon cancer Inherited MMR deficiency (Lynch syndrome) Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Mismatch repair cancer syndrome 1	Reviewed By Expert Panel	CA009872	rs_63750781	33 SubmittersRCV000018626 RCV000075666 RCV000144599 RCV000160518 RCV000524293 RCV000570680 RCV001249927 RCV001353627 RCV003229801 RCV004584176 RCV004795924
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser)	SNV Germline	Chr3:37048562	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Condition: not provided	Reviewed By Expert Panel	CA007707	rs_63750899	7 SubmittersRCV000018629 RCV000075432 RCV000162472 RCV001040524 RCV001267884 RCV001284501
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter)	SNV Germline	Chr3:37017521	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Colon cancer Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA012452	rs_63750691	7 SubmittersRCV000018631 RCV000075875 RCV000677880 RCV000704907 RCV001723579 RCV002408469
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	SNV Germline	Chr3:37048955	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Mismatch repair cancer syndrome 1 Hereditary nonpolyposis colon cancer Muir-Torré syndrome Hereditary breast ovarian cancer syndrome Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA008304	rs_63750217	27 SubmittersRCV000018632 RCV000075495 RCV000202172 RCV000213700 RCV000519240 RCV000524270 RCV000763105 RCV001328323 RCV002288511 RCV005251042 RCV005865086
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu)	SNV Germline	Chr3:36996702	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA008188	rs_63749939	9 SubmittersRCV000018641 RCV000075482 RCV000132445 RCV000216147 RCV000524267
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)	SNV Germline	Chr3:37017508	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Lynch syndrome 1 Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA012394	rs_63751194	26 SubmittersRCV000022502 RCV000034802 RCV000075872 RCV000220712 RCV000524317 RCV000677879 RCV001093673 RCV005025076 RCV006449942
NM_000249.4(MLH1):c.1865T>A (p.Leu622His)	SNV Germline	Chr3:37047652	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA007237	rs_63750693	8 SubmittersRCV000022505 RCV000075389 RCV001804746 RCV001851995 RCV002408475 RCV004998105
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)	SNV Germline/somatic	Chr3:37025979	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Mismatch repair cancer syndrome 1 Lynch-like syndrome Lynch syndrome 1	Reviewed By Expert Panel	CA005183	rs_63750540	18 SubmittersRCV000030213 RCV000132422 RCV000202201 RCV000524235 RCV000659871 RCV000763102 RCV001249929 RCV001804748
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)	SNV Germline	Chr3:37048557	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Lynch syndrome 1 not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA007678	rs_35045067	17 SubmittersRCV000131964 RCV000524258 RCV000662690 RCV000587551 RCV001093659 RCV002267800 RCV003996129
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)	SNV Germline	Chr3:37050595	Conflicting classifications of pathogenicity	Lynch syndrome not specified Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA009110	rs_148317871	14 SubmittersRCV000030221 RCV000160545 RCV000411992 RCV000524281 RCV000573289 RCV000767194 RCV005357160
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)	SNV Germline/somatic	Chr3:37001045	Pathogenic	Lynch syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA009575	rs_63751221	19 SubmittersRCV000030223 RCV000220956 RCV000576742 RCV000569466 RCV000524287 RCV001250008 RCV006277661
NM_000249.4(MLH1):c.454-1G>A	SNV Germline	Chr3:37008813	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 1 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA010570	rs_193922370	8 SubmittersRCV000018611 RCV000030226 RCV001067834 RCV001725119 RCV001804749 RCV005659849
NM_000249.4(MLH1):c.94A>G (p.Ile32Val)	SNV Germline	Chr3:36993641	Conflicting classifications of pathogenicity	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA013254	rs_2020872	9 SubmittersRCV000030233 RCV000217828 RCV000524324 RCV000568967 RCV001030560
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter)	SNV Germline	Chr2:47416383	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 Lynch syndrome 1	Reviewed By Expert Panel	CA016912	rs_63750245	8 SubmittersRCV000030234 RCV000759091 RCV001009753 RCV001224622 RCV003450651 RCV005394174
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)	SNV Germline/somatic	Chr2:47476399	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Malignant tumor of ascending colon Lynch-like syndrome Lynch syndrome 4	Reviewed By Expert Panel	CA019872	rs_63749932	23 SubmittersRCV000030248 RCV000115515 RCV000202174 RCV000524372 RCV000576755 RCV000677886 RCV001250040 RCV004555850
NM_000251.3(MSH2):c.421A>G (p.Met141Val)	SNV Germline	Chr2:47410148	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA021148	rs_193922374	8 SubmittersRCV000030254 RCV000115531 RCV000212584 RCV001079015 RCV005420519 RCV005357161
NM_000251.3(MSH2):c.942+3A>T	SNV Germline/somatic	Chr2:47414421	Pathogenic	Lynch syndrome 1 Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome Carcinoma of colon Breast carcinoma Hereditary nonpolyposis colon cancer Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 MSH2-related disorder Hereditary breast ovarian cancer syndrome Uterine corpus endometrial carcinoma Colon adenocarcinoma	Reviewed By Expert Panel	CA022585	rs_193922376	35 SubmittersRCV000001844 RCV000030256 RCV000115549 RCV000201997 RCV000524424 RCV001249912 RCV001353565 RCV001579303 RCV001731319 RCV005025083 RCV004734535 RCV006605197 RCV005888781 RCV005888780
NM_000179.3(MSH6):c.38A>C (p.Lys13Thr)	SNV Germline	Chr2:47783271	Conflicting classifications of pathogenicity	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms not specified Endometrial carcinoma Endometrial carcinoma Mismatch repair cancer syndrome 3 Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA014649	rs_41294988	12 SubmittersRCV000030274 RCV000160705 RCV000569787 RCV000662751 RCV000627725 RCV001818192 RCV003466879 RCV005394175
NM_000179.3(MSH6):c.975A>G (p.Gln325=)	SNV Germline	Chr2:47798958	Conflicting classifications of pathogenicity	Lynch syndrome not specified Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA016697	rs_193922345	6 SubmittersRCV000030278 RCV000423476 RCV000805479 RCV002256010 RCV005420520
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	SNV Germline	Chr17:43063930	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Ovarian neoplasm Breast and/or ovarian cancer Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Familial cancer of breast Gastric cancer BRCA1-related cancer predisposition Breast-ovarian cancer, familial, susceptibility to, 1 Lynch syndrome 1 BRCA1-related disorder Fanconi anemia, complementation group S	Reviewed By Expert Panel	CA003235	rs_41293459	53 SubmittersRCV000031217 RCV000048790 RCV000131564 RCV000195350 RCV000785422 RCV000735446 RCV002250479 RCV002496477 RCV003162265 RCV004802991 RCV005861026 RCV004554634 RCV005357178
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)	SNV Germline	Chr2:47799850	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Lynch syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms MSH6-related disorder	Criteria Provided Conflicting Classifications	CA009344	rs_3136334	14 SubmittersRCV000034494 RCV000121577 RCV000128867 RCV000074692 RCV000662448 RCV001082588 RCV004534719
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)	SNV Germline	Chr2:47800650	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer MSH6-related disorder	Criteria Provided Conflicting Classifications	CA010704	rs_149945495	16 SubmittersRCV000034496 RCV000115393 RCV000235185 RCV000410628 RCV001080247 RCV003492327 RCV004739319
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)	SNV Germline	Chr3:37048584	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis Colorectal cancer, hereditary nonpolyposis, type 2 not specified Hereditary nonpolyposis colorectal neoplasms MLH1-related disorder Lynch syndrome	Criteria Provided Conflicting Classifications	CA007813	rs_63751225	18 SubmittersRCV000034544 RCV000128924 RCV000148623 RCV000662533 RCV000781539 RCV001085205 RCV003944879 RCV004806018
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)	SNV Germline	Chr2:47471051	Conflicting classifications of pathogenicity	Condition: not provided Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis Muir-Torré syndrome Lynch syndrome 1 Mismatch repair cancer syndrome 1 Hereditary nonpolyposis colorectal neoplasms Malignant tumor of breast not specified Breast and/or ovarian cancer Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA019161	rs_201118107	18 SubmittersRCV000034553 RCV000076263 RCV000115510 RCV000148636 RCV000765667 RCV001079601 RCV001354468 RCV002265576 RCV003492329 RCV005246597
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)	SNV Germline	Chr2:47475052	Conflicting classifications of pathogenicity	Condition: not provided Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis not specified Lynch syndrome 1 Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA019304	rs_41295288	25 SubmittersRCV000034554 RCV000076286 RCV000115511 RCV000148641 RCV000200985 RCV000659882 RCV000765668 RCV001081309 RCV003149607
NM_000251.3(MSH2):c.1837A>C (p.Asn613His)	SNV Germline	Chr2:47475102	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Criteria Provided Conflicting Classifications	CA019422	rs_200147804	7 SubmittersRCV000034555 RCV000705544 RCV000771463 RCV004806020 RCV005394197
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)	SNV Germline	Chr2:47478486	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Malignant tumor of breast Hereditary nonpolyposis colon cancer MSH2-related disorder	Criteria Provided Conflicting Classifications	CA020577	rs_202145681	15 SubmittersRCV000034556 RCV000121564 RCV000129519 RCV001030484 RCV001080801 RCV001093691 RCV001356651 RCV001787035 RCV004534720
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)	SNV Germline	Chr7:5987328	Conflicting classifications of pathogenicity	Condition: not provided Lynch syndrome not specified Hereditary cancer-predisposing syndrome Lynch syndrome 4 Hereditary nonpolyposis colorectal neoplasms Malignant tumor of breast Breast and/or ovarian cancer Ovarian cancer	Criteria Provided Conflicting Classifications	CA009671	rs_63750685	28 SubmittersRCV000034615 RCV000076809 RCV000121844 RCV000162366 RCV000625386 RCV001081746 RCV001356193 RCV003149610 RCV003153324
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)	SNV Germline	Chr7:5982849	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome Lynch syndrome 4 not specified Lynch syndrome 4 Mismatch repair cancer syndrome 1 Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer Hereditary cancer	Criteria Provided Conflicting Classifications	CA010907	rs_201671325	28 SubmittersRCV000034624 RCV000115676 RCV000199450 RCV000411225 RCV000417397 RCV000515268 RCV001081398 RCV001798066 RCV003492332
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)	SNV Germline	Chr7:6006002	Conflicting classifications of pathogenicity	Condition: not provided Lynch syndrome Hereditary cancer-predisposing syndrome not specified Lynch syndrome 4 Mismatch repair cancer syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 4 Breast and/or ovarian cancer PMS2-related disorder	Criteria Provided Conflicting Classifications	CA012293	rs_201343342	19 SubmittersRCV000034630 RCV000123089 RCV000115698 RCV000212836 RCV000515284 RCV001083711 RCV001159382 RCV003149612 RCV003944883
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)	SNV Germline	Chr7:5999241	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Lynch syndrome 4 Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer Lynch syndrome	Criteria Provided Conflicting Classifications	CA012331	rs_375289386	16 SubmittersRCV000034631 RCV000132453 RCV000221255 RCV000662753 RCV001080249 RCV001798067 RCV003996173
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe)	SNV Germline	Chr7:5997421	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 4 not specified Clear cell carcinoma of kidney Mismatch repair cancer syndrome 4 Lynch syndrome 4	Criteria Provided Conflicting Classifications	CA012634	rs_201395630	12 SubmittersRCV000034634 RCV000165656 RCV000231924 RCV000412437 RCV001290448 RCV005888936 RCV005042107
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)	SNV Germline	Chr7:6005969	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Lynch syndrome Lynch syndrome 4 Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer PMS2-related disorder Cervical cancer	Criteria Provided Conflicting Classifications	CA013092	rs_146176004	23 SubmittersRCV000034637 RCV000115707 RCV000121855 RCV000123093 RCV000786854 RCV001082141 RCV003492334 RCV003891470 RCV005888937
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)	SNV Germline	Chr7:5992008	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Lynch syndrome 4 Hereditary nonpolyposis colorectal neoplasms Malignant tumor of breast PMS2-related disorder	Criteria Provided Conflicting Classifications	CA013361	rs_139438201	19 SubmittersRCV000034638 RCV000115712 RCV000212860 RCV000987839 RCV001083014 RCV001354089 RCV003952396
NM_000251.3(MSH2):c.2276G>A (p.Gly759Glu)	SNV Germline	Chr2:47478337	Conflicting classifications of pathogenicity	Condition: not provided Lynch syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA020397	rs_386833406	3 SubmittersRCV000034800 RCV000986685 RCV002444462
NM_000179.3(MSH6):c.3173-1G>C	SNV Germline	Chr2:47803419	Pathogenic/Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Hereditary nonpolyposis colon cancer	Criteria Provided Multiple Submitters No Conflicts	CA011783	rs_397515875	10 SubmittersRCV000035322 RCV000115404 RCV000201971 RCV000697257 RCV003450661 RCV003323369
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)	SNV Germline	Chr2:47806641	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Endometrial carcinoma Mismatch repair cancer syndrome 3 Lynch syndrome 5 Breast and/or ovarian cancer MSH6-related disorder Endometrial carcinoma	Reviewed By Expert Panel	CA015060	rs_267608094	26 SubmittersRCV000035325 RCV000131743 RCV000202305 RCV000410467 RCV000524203 RCV001824584 RCV002490471 RCV003492340 RCV004528168 RCV003460548
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys)	SNV Germline	Chr19:38580090	Pathogenic/Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Lynch syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA024150	rs_118192180	6 SubmittersRCV000056232 RCV000119518 RCV001854163 RCV003996488 RCV004555852
NM_000179.3(MSH6):c.-8C>T	SNV Germline	Chr2:47783226	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Lynch syndrome 5 Condition: not provided Endometrial carcinoma Lynch syndrome MSH6-related disorder	Criteria Provided Conflicting Classifications	CA016627	rs_565211544	17 SubmittersRCV000131026 RCV000212613 RCV000412463 RCV000587581 RCV001354724 RCV003997060 RCV004537271
NM_000179.3(MSH6):c.1082G>A (p.Arg361His)	SNV Germline/somatic	Chr2:47799065	Conflicting classifications of pathogenicity	Lynch syndrome Lynch syndrome 5 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma MSH6-related disorder	Criteria Provided Conflicting Classifications	CA007978	rs_63750440	11 SubmittersRCV000074629 RCV000409637 RCV000487116 RCV000567227 RCV000701439 RCV003466931 RCV004739330
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)	SNV Germline	Chr2:47799092	Pathogenic/Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary nonpolyposis colon cancer Gastric cancer Lynch syndrome 5 MSH6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA008059	rs_587779204	15 SubmittersRCV000074633 RCV000162441 RCV000524101 RCV000518839 RCV001201190 RCV003162468 RCV003450922 RCV004739331
NM_000179.3(MSH6):c.1133G>A (p.Arg378Lys)	SNV Germline	Chr2:47799116	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms not specified Carcinoma of colon Lynch syndrome Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA008097	rs_587779205	8 SubmittersRCV000479933 RCV000569385 RCV000629837 RCV001290538 RCV001358106 RCV003997062 RCV004566915
NM_000179.3(MSH6):c.1144C>T (p.His382Tyr)	SNV Germline	Chr2:47799127	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms not specified Endometrial carcinoma Lynch syndrome	Criteria Provided Conflicting Classifications	CA008133	rs_587779207	11 SubmittersRCV000162700 RCV000213163 RCV000411429 RCV000627690 RCV001255541 RCV003460658 RCV003997063
NM_000179.3(MSH6):c.1193T>A (p.Val398Glu)	SNV Germline	Chr2:47799176	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA008305	rs_587779208	1 SubmittersRCV000074641
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)	SNV Germline	Chr2:47783357	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Condition: not provided Breast and/or ovarian cancer MSH6-related disorder	Criteria Provided Conflicting Classifications	CA008371	rs_34014629	14 SubmittersRCV000131942 RCV000422207 RCV000410444 RCV000524105 RCV001354476 RCV001719808 RCV003149716 RCV004542739
NM_000179.3(MSH6):c.1273A>G (p.Ile425Val)	SNV Germline	Chr2:47799256	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Condition: not provided Lynch syndrome Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA008413	rs_63749971	8 SubmittersRCV000570856 RCV001063935 RCV003466932 RCV004724790 RCV003997064 RCV005620899
NM_000179.3(MSH6):c.1299T>A (p.Tyr433Ter)	SNV Germline	Chr2:47799282	Pathogenic	Lynch syndrome Condition: not provided Lynch syndrome 5	Reviewed By Expert Panel	CA008461	rs_267608055	3 SubmittersRCV000074647 RCV003321496 RCV003450924
NM_000179.3(MSH6):c.1304T>C (p.Leu435Pro)	SNV Germline	Chr2:47799287	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA008468	rs_63751405	6 SubmittersRCV000128873 RCV000214282 RCV000791437 RCV002288560 RCV003460660
NM_000179.3(MSH6):c.1325T>C (p.Ile442Thr)	SNV Germline	Chr2:47799308	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome	Criteria Provided Conflicting Classifications	CA008493	rs_587779210	6 SubmittersRCV000213558 RCV000568557 RCV000627712 RCV003997065
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)	SNV Germline	Chr2:47799329	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Condition: not provided Endometrial carcinoma Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA008516	rs_63750741	13 SubmittersRCV000074651 RCV000491070 RCV000576688 RCV000627730 RCV001804803 RCV003137604 RCV003466933 RCV005252731
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)	SNV Germline/somatic	Chr2:47799385	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Mismatch repair cancer syndrome 1 Lynch syndrome 5 Lynch syndrome 5 Endometrial carcinoma MSH6-related disorder	Criteria Provided Conflicting Classifications	CA008576	rs_369456858	15 SubmittersRCV000074653 RCV000166488 RCV000222213 RCV000524109 RCV000587141 RCV001535649 RCV003450925 RCV004566916 RCV004528269
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)	SNV Germline	Chr2:47799427	Pathogenic	Lynch syndrome Condition: not provided Lynch syndrome 5 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Endometrial carcinoma Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA008614	rs_63750909	21 SubmittersRCV000074656 RCV000215386 RCV000410127 RCV000491001 RCV000524108 RCV001355905 RCV003128135 RCV004794357
NM_000179.3(MSH6):c.1474A>G (p.Met492Val)	SNV Germline	Chr2:47799457	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Carcinoma of colon Lynch syndrome Lynch syndrome 5 Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA008673	rs_61754783	14 SubmittersRCV000115374 RCV000212649 RCV000524111 RCV000587662 RCV001353728 RCV003997066 RCV005420526 RCV006451836
NM_000179.3(MSH6):c.1477G>T (p.Glu493Ter)	SNV Germline	Chr2:47799460	Pathogenic	Lynch syndrome Thyroid cancer, nonmedullary, 1 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008679	rs_267608046	3 SubmittersRCV000074658 RCV005890428 RCV005251057
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)	SNV Germline/somatic	Chr2:47799466	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Lynch-like syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA008701	rs_587779212	26 SubmittersRCV000074659 RCV000131420 RCV000202276 RCV000524112 RCV001353858 RCV001249984 RCV003334381 RCV003460662 RCV004700371
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)	SNV Germline	Chr2:47799548	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 not specified Endometrial carcinoma Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA008795	rs_63751009	11 SubmittersRCV000214996 RCV000219119 RCV000556355 RCV000662803 RCV001194395 RCV003460663 RCV004786355
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter)	SNV Germline	Chr2:47799555	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary nonpolyposis colon cancer Lynch syndrome 5	Reviewed By Expert Panel	CA008805	rs_587779215	9 SubmittersRCV000074665 RCV000491949 RCV000798747 RCV002266921 RCV002469003 RCV003450926
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)	SNV Germline	Chr2:47799679	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms not specified MSH6-related disorder	Criteria Provided Conflicting Classifications	CA009071	rs_63749973	12 SubmittersRCV000131251 RCV000212651 RCV000411714 RCV001080487 RCV001328467 RCV004542740
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)	SNV Germline	Chr2:47799712	Conflicting classifications of pathogenicity	Condition: not provided Lynch syndrome 5 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms not specified Lynch syndrome Hereditary nonpolyposis colon cancer Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA009088	rs_542838372	18 SubmittersRCV000115381 RCV000409690 RCV000491847 RCV000524118 RCV003235029 RCV003997068 RCV003993789 RCV003466935
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)	SNV Germline	Chr2:47799722	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided not specified Endometrial carcinoma Lynch syndrome 5 Mismatch repair cancer syndrome 3 Endometrial carcinoma Lynch syndrome 5 Lynch syndrome	Criteria Provided Conflicting Classifications	CA009108	rs_41295270	13 SubmittersRCV000131189 RCV000524119 RCV000485534 RCV001818236 RCV002498356 RCV003466936 RCV004019093 RCV005357440
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)	SNV Germline/somatic	Chr2:47799737	Pathogenic/Likely pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Endometrial carcinoma Lynch syndrome 5 MSH6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA009121	rs_587779220	12 SubmittersRCV000074683 RCV000219463 RCV000491054 RCV000791380 RCV001290557 RCV003128136 RCV003450930 RCV004537273
NM_000179.3(MSH6):c.1835C>A (p.Ser612Ter)	SNV Germline	Chr2:47799818	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Condition: not provided	Reviewed By Expert Panel	CA009299	rs_63750564	5 SubmittersRCV000074690 RCV002408572 RCV003593866 RCV003450933 RCV004696678
NM_000179.3(MSH6):c.1857A>C (p.Glu619Asp)	SNV Germline	Chr2:47799840	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome Lynch syndrome 5 Mismatch repair cancer syndrome 3	Criteria Provided Conflicting Classifications	CA009330	rs_63751121	10 SubmittersRCV000132230 RCV000221704 RCV000524122 RCV003460665 RCV003997069 RCV005420529 RCV005357442
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)	SNV Germline	Chr2:47799915	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome not specified Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Condition: not provided MSH6-related disorder Hereditary cancer	Criteria Provided Conflicting Classifications	CA009475	rs_34938432	14 SubmittersRCV000074697 RCV000166227 RCV000219792 RCV000409155 RCV000524127 RCV001355116 RCV001703971 RCV004537274 RCV005234963
NM_000179.3(MSH6):c.2006T>C (p.Ile669Thr)	SNV Germline	Chr2:47799989	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Lynch syndrome Lynch syndrome 5 Endometrial carcinoma Mismatch repair cancer syndrome 3 Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA009545	rs_555209664	13 SubmittersRCV000130794 RCV000507463 RCV000679222 RCV001083193 RCV003460666 RCV003997070 RCV005394300 RCV005420531
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)	SNV Germline	Chr2:47800040	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 not specified Endometrial carcinoma Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA009620	rs_587779227	17 SubmittersRCV000074709 RCV000128865 RCV000212657 RCV000524130 RCV000576301 RCV000583928 RCV001353773 RCV001526863
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter)	SNV Germline	Chr2:47800044	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Hereditary nonpolyposis colon cancer Lynch syndrome 5 MSH6-related disorder Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA009627	rs_267608068	12 SubmittersRCV000074710 RCV000162397 RCV000201965 RCV000530716 RCV001353419 RCV002222379 RCV003450938 RCV004724791 RCV006555028
NM_000179.3(MSH6):c.2080T>C (p.Cys694Arg)	SNV Germline	Chr2:47800063	Pathogenic/Likely pathogenic	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA009656	rs_587779228	3 SubmittersRCV000822642 RCV001186406 RCV003450940
NM_000179.3(MSH6):c.2092C>G (p.Gln698Glu)	SNV Germline	Chr2:47800075	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 not specified Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA009674	rs_63750832	14 SubmittersRCV000130187 RCV000480300 RCV000524131 RCV000662368 RCV003320553 RCV003466939
NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter)	SNV Germline	Chr2:47800088	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Endometrial carcinoma Lynch syndrome 5 Mismatch repair cancer syndrome 3 Lynch syndrome 5	Reviewed By Expert Panel	CA009686	rs_63751419	5 SubmittersRCV000074717 RCV000629877 RCV001014449 RCV002490669 RCV003450941
NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser)	SNV Germline	Chr2:47800100	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA009702	rs_587779231	8 SubmittersRCV000074718 RCV001530136 RCV001854277 RCV003137606 RCV003584540
NM_000179.3(MSH6):c.2127T>A (p.Tyr709Ter)	SNV Germline	Chr2:47800110	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA009710	rs_587779232	6 SubmittersRCV000074719 RCV000130308 RCV000690199 RCV003148645 RCV003450942 RCV003460669
NM_000179.3(MSH6):c.2177T>A (p.Phe726Tyr)	SNV Germline	Chr2:47800160	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Condition: not provided Endometrial carcinoma Lynch syndrome not specified	Criteria Provided Conflicting Classifications	CA009822	rs_574358605	13 SubmittersRCV000568729 RCV000524133 RCV000662512 RCV001582560 RCV003466941 RCV003997072 RCV006268106
NM_000179.3(MSH6):c.2183A>C (p.Lys728Thr)	SNV Germline	Chr2:47800166	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome	Criteria Provided Conflicting Classifications	CA009828	rs_35552856	6 SubmittersRCV000221222 RCV000563245 RCV000657127 RCV000688768 RCV003997073
NM_000179.3(MSH6):c.2191C>T (p.Gln731Ter)	SNV Germline	Chr2:47800174	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5	Reviewed By Expert Panel	CA009848	rs_63751442	4 SubmittersRCV000074725 RCV000490877 RCV001206112 RCV003450943
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)	SNV Germline	Chr2:47800177	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Lynch syndrome 5 Endometrial carcinoma MSH6-related disorder	Reviewed By Expert Panel	CA009856	rs_63751127	17 SubmittersRCV000074726 RCV000132226 RCV000212661 RCV000524134 RCV002281906 RCV003450944 RCV003466942 RCV004739332
NM_000179.3(MSH6):c.2282G>A (p.Arg761Lys)	SNV Germline	Chr2:47800265	Conflicting classifications of pathogenicity	Lynch syndrome 5 Condition: not provided Hereditary nonpolyposis colorectal neoplasms not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA009957	rs_587779233	7 SubmittersRCV000410000 RCV001284513 RCV001045519 RCV002267827 RCV002444527
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)	SNV Germline	Chr2:47800297	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA010016	rs_63750138	16 SubmittersRCV000074732 RCV000162422 RCV000218399 RCV000524139 RCV001353694 RCV002467437 RCV003466943
NM_000179.3(MSH6):c.2330G>A (p.Trp777Ter)	SNV Germline	Chr2:47800313	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA010055	rs_587779234	2 SubmittersRCV000074736 RCV005672317
NM_000179.3(MSH6):c.2392C>G (p.Leu798Val)	SNV Germline	Chr2:47800375	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Inherited polyposis and early onset colorectal cancer - germline testing	Criteria Provided Conflicting Classifications	CA010176	rs_587779238	5 SubmittersRCV000572114 RCV000629860 RCV003997075 RCV005430482
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)	SNV Germline	Chr2:47800391	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer not specified Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Condition: not provided Malignant tumor of breast Endometrial carcinoma Lynch syndrome Endometrial carcinoma Lynch syndrome 5 Mismatch repair cancer syndrome 3	Criteria Provided Conflicting Classifications	CA010206	rs_63751450	19 SubmittersRCV000130124 RCV000148651 RCV000212666 RCV000410826 RCV000524143 RCV000586083 RCV001356592 RCV003466944 RCV003997077 RCV005025118
NM_000179.3(MSH6):c.2503C>T (p.Gln835Ter)	SNV Germline	Chr2:47800486	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Lynch syndrome 5	Reviewed By Expert Panel	CA010314	rs_63751321	6 SubmittersRCV000074750 RCV000218020 RCV000520652 RCV001223542 RCV001731360 RCV003450946
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)	SNV Germline	Chr2:47800544	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Colorectal cancer Condition: not provided Mismatch repair cancer syndrome 1 Lynch syndrome 5 Endometrial carcinoma Lynch syndrome 5 Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Breast and/or ovarian cancer MSH6-related disorder	Criteria Provided Conflicting Classifications	CA010423	rs_34374438	20 SubmittersRCV000121574 RCV000129191 RCV000148652 RCV000585210 RCV000764424 RCV000986723 RCV001093694 RCV001083699 RCV001353909 RCV003149719 RCV004528270
NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr)	SNV Germline	Chr2:47800580	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms not specified Lynch syndrome 5 Condition: not provided Endometrial carcinoma Lynch syndrome MSH6-related disorder	Criteria Provided Conflicting Classifications	CA010469	rs_190075874	13 SubmittersRCV000222631 RCV000524146 RCV000479488 RCV000662498 RCV000759136 RCV003137607 RCV003997079 RCV004542741
NM_000179.3(MSH6):c.2633T>G (p.Val878Gly)	SNV Germline	Chr2:47800616	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms not specified Condition: not provided Lynch syndrome	Criteria Provided Conflicting Classifications	CA010648	rs_2020912	6 SubmittersRCV000584072 RCV000630141 RCV000587077 RCV001778700 RCV003997080
NM_000179.3(MSH6):c.2702G>A (p.Arg901His)	SNV Germline	Chr2:47800685	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Endometrial carcinoma Lynch syndrome	Criteria Provided Conflicting Classifications	CA010764	rs_63749889	8 SubmittersRCV000570122 RCV000559913 RCV001561918 RCV003460671 RCV003997081
NM_000179.3(MSH6):c.2714T>A (p.Leu905Ter)	SNV Germline	Chr2:47800697	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA010781	rs_587779245	1 SubmittersRCV000074775
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)	SNV Germline	Chr2:47800714	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Endometrial carcinoma Condition: not provided Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Breast carcinoma Endometrial carcinoma Mismatch repair cancer syndrome 3 Lynch syndrome 5 Hereditary nonpolyposis colon cancer Gastric cancer Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA010815	rs_63751017	32 SubmittersRCV000074777 RCV000129807 RCV000148645 RCV000202017 RCV000411710 RCV000524149 RCV001353531 RCV001554337 RCV002477210 RCV002271398 RCV003162471 RCV006555029
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)	SNV Germline	Chr2:47800747	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Lynch syndrome 5 Hereditary nonpolyposis colon cancer Condition: not provided Gastric cancer Endometrial carcinoma	Reviewed By Expert Panel	CA010831	rs_587779246	15 SubmittersRCV000074779 RCV000491845 RCV001056241 RCV001357595 RCV001262897 RCV002281907 RCV002267828 RCV003162472 RCV003460672
NM_000179.3(MSH6):c.2815C>T (p.Gln939Ter)	SNV Germline	Chr2:47800798	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA010943	rs_63750140	4 SubmittersRCV000074783 RCV000491935 RCV003450950 RCV005089501
NM_000179.3(MSH6):c.2906A>C (p.Tyr969Ser)	SNV Germline	Chr2:47800889	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Endometrial carcinoma Lynch syndrome 5 Condition: not provided MSH6-related disorder Endometrial carcinoma Lynch syndrome 5 Mismatch repair cancer syndrome 3	Criteria Provided Conflicting Classifications	CA011072	rs_63749919	6 SubmittersRCV000552775 RCV002433573 RCV003398659 RCV003477462 RCV004528271 RCV005394301
NM_000179.3(MSH6):c.2927G>A (p.Arg976His)	SNV Germline	Chr2:47800910	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Endometrial carcinoma Lynch syndrome 5 Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA011105	rs_63751113	10 SubmittersRCV000218618 RCV000455514 RCV000629775 RCV002273954 RCV003460673 RCV004700372 RCV005600635
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter)	SNV Germline	Chr2:47800914	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA011115	rs_63750111	10 SubmittersRCV000074788 RCV000491868 RCV001008655 RCV001804805 RCV003450952 RCV004566920 RCV002514330
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)	SNV Germline	Chr2:47800966	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 1 Lynch syndrome 5 Mismatch repair cancer syndrome 3	Reviewed By Expert Panel	CA011274	rs_63750258	9 SubmittersRCV000074793 RCV000491673 RCV001062414 RCV001269505 RCV001804806 RCV003450954 RCV005364959
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)	SNV Germline	Chr2:47800996	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Endometrial carcinoma Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA011340	rs_63750563	23 SubmittersRCV000074795 RCV000202164 RCV000491215 RCV000624966 RCV000808924 RCV001263506 RCV003460674 RCV005861041
NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter)	SNV Germline	Chr2:47801003	Pathogenic	Mismatch repair cancer syndrome 3 Lynch syndrome Condition: not provided Lynch syndrome 5 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA011367	rs_587779252	4 SubmittersRCV000009493 RCV000074796 RCV004696679 RCV000202503 RCV002433574
NM_000179.3(MSH6):c.3067G>T (p.Glu1023Ter)	SNV Germline	Chr2:47801050	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Condition: not provided	Reviewed By Expert Panel	CA011483	rs_267608059	8 SubmittersRCV000074801 RCV000491450 RCV000687014 RCV003450956 RCV004595907
NM_000179.3(MSH6):c.3076G>T (p.Asp1026Tyr)	SNV Germline	Chr2:47801059	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA011499	rs_267608054	5 SubmittersRCV000160687 RCV001237308 RCV004943738 RCV006633892
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)	SNV Germline	Chr2:47801086	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma Hereditary nonpolyposis colon cancer Gastric cancer Lynch syndrome 5 Endometrial carcinoma Mismatch repair cancer syndrome 3 Lynch syndrome 5 Glioma susceptibility 1	Reviewed By Expert Panel	CA011558	rs_63749999	28 SubmittersRCV000074803 RCV000223452 RCV000484829 RCV000524153 RCV001355855 RCV001194362 RCV003162473 RCV002477211 RCV003450957 RCV005890429
NM_000179.3(MSH6):c.3163G>A (p.Ala1055Thr)	SNV Germline	Chr2:47801146	Conflicting classifications of pathogenicity	Condition: not provided Lynch syndrome 5 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Lynch syndrome 5 Endometrial carcinoma not specified Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA011694	rs_587779254	11 SubmittersRCV000218375 RCV000409200 RCV000565213 RCV000627700 RCV000764427 RCV003493433 RCV003460677
NM_000179.3(MSH6):c.3172+1G>T	SNV Germline	Chr2:47801156	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Condition: not provided Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA011722	rs_587779255	9 SubmittersRCV000074809 RCV000565688 RCV000627710 RCV001194394 RCV003114239 RCV003450959 RCV003460678
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	SNV Germline/somatic	Chr2:47803449	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Mismatch repair cancer syndrome 1 Endometrial carcinoma Lynch syndrome 5 Endometrial carcinoma Carcinoma of colon Lynch-like syndrome Gastric cancer Hereditary nonpolyposis colon cancer MSH6-related disorder	Reviewed By Expert Panel	CA011916	rs_63749843	34 SubmittersRCV000074817 RCV000160692 RCV000172816 RCV000201960 RCV000524156 RCV000607176 RCV000763497 RCV001253564 RCV001353539 RCV001249973 RCV003162474 RCV003389678 RCV005229880
NM_000179.3(MSH6):c.3218C>G (p.Pro1073Arg)	SNV Germline	Chr2:47803465	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA012014	rs_587779257	6 SubmittersRCV000484501 RCV001181943 RCV001209408 RCV003997085 RCV005420536
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)	SNV Germline	Chr2:47803473	Likely pathogenic	Lynch syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Hereditary nonpolyposis colon cancer Malignant tumor of breast Breast carcinoma Endometrial carcinoma Breast and/or ovarian cancer Gastric cancer Lynch syndrome Inherited prostate cancer Inherited MMR deficiency (Lynch syndrome) MSH6-related disorder Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA012063	rs_63750617	37 SubmittersRCV000074823 RCV000162445 RCV000254700 RCV000524159 RCV000709742 RCV000780464 RCV001356266 RCV001564011 RCV003466947 RCV003492400 RCV003162475 RCV003997086 RCV004584185 RCV004808573 RCV004739334 RCV006451837
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)	SNV Germline	Chr2:47803492	Conflicting classifications of pathogenicity	Lynch syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Carcinoma of colon Lynch syndrome 5 MSH6-related disorder Hereditary cancer	Criteria Provided Conflicting Classifications	CA012135	rs_191109849	19 SubmittersRCV000074824 RCV000121583 RCV000115409 RCV000656898 RCV001085899 RCV001093655 RCV001358430 RCV002288561 RCV004528272 RCV005234964
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr)	SNV Germline	Chr2:47803506	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Ovarian cancer MSH6-related disorder Mismatch repair cancer syndrome 3	Criteria Provided Conflicting Classifications	CA012215	rs_63750998	11 SubmittersRCV000131160 RCV000212679 RCV001083021 RCV001137558 RCV003153343 RCV004537277 RCV005357445
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)	SNV Germline	Chr2:47803506	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ovarian cancer not specified Condition: not provided Mismatch repair cancer syndrome 1 Endometrial carcinoma Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Breast carcinoma Lynch syndrome 5 MSH6-related disorder Lynch syndrome	Criteria Provided Conflicting Classifications	CA012243	rs_63750998	21 SubmittersRCV000131245 RCV000148653 RCV000212678 RCV000514075 RCV000764429 RCV001079820 RCV001262368 RCV003325179 RCV004537278 RCV005364960
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg)	SNV Germline	Chr2:47803507	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Endometrial carcinoma Lynch syndrome 5 Mismatch repair cancer syndrome 1 Breast and/or ovarian cancer Lynch syndrome 5 not specified	Criteria Provided Conflicting Classifications	CA012273	rs_63750753	15 SubmittersRCV000074829 RCV000160725 RCV000524164 RCV000586012 RCV000764430 RCV003149721 RCV004589547 RCV004799777
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His)	SNV Germline	Chr2:47803531	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lynch syndrome 5 not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome	Criteria Provided Conflicting Classifications	CA012443	rs_63750253	13 SubmittersRCV000164048 RCV000412287 RCV000433110 RCV000524168 RCV000985842 RCV003997087
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)	SNV Germline	Chr2:47803546	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Endometrial carcinoma Mismatch repair cancer syndrome 1 Lynch syndrome 5 Malignant tumor of breast Endometrial carcinoma Lynch syndrome 5 MSH6-related disorder	Criteria Provided Conflicting Classifications	CA012473	rs_63750442	18 SubmittersRCV000074836 RCV000218926 RCV000223174 RCV000524169 RCV000587747 RCV000764431 RCV001358521 RCV003460680 RCV004019095 RCV004542742
NM_000179.3(MSH6):c.3355G>T (p.Glu1119Ter)	SNV Germline	Chr2:47803602	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA012669	rs_267608084	1 SubmittersRCV000074842
NM_000179.3(MSH6):c.3367G>T (p.Glu1123Ter)	SNV Germline	Chr2:47803614	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5	Reviewed By Expert Panel	CA012699	rs_267608086	3 SubmittersRCV000074843 RCV001854282 RCV003450964
NM_000179.3(MSH6):c.3383A>G (p.Tyr1128Cys)	SNV Germline	Chr2:47803630	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Endometrial carcinoma Lynch syndrome Mismatch repair cancer syndrome 3 Endometrial carcinoma Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA012724	rs_587779261	7 SubmittersRCV000573399 RCV000524174 RCV001800369 RCV003460682 RCV003997088 RCV005031553
NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser)	SNV Germline	Chr2:47803662	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Criteria Provided Conflicting Classifications	CA012775	rs_63751063	4 SubmittersRCV002452190 RCV003454113 RCV005096266 RCV005227588
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met)	SNV Germline	Chr2:47803672	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Malignant tumor of breast Lynch syndrome 5 Endometrial carcinoma Lynch syndrome	Criteria Provided Conflicting Classifications	CA012799	rs_267608089	16 SubmittersRCV000115415 RCV000212683 RCV000524175 RCV000656899 RCV001357449 RCV002288562 RCV003460683 RCV003997089
NM_000179.3(MSH6):c.3436C>T (p.Gln1146Ter)	SNV Germline	Chr2:47803683	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 5	Reviewed By Expert Panel	CA012815	rs_63750356	5 SubmittersRCV000074849 RCV000561009 RCV000629768 RCV000657654 RCV003450966
NM_000179.3(MSH6):c.3438+1G>A	SNV Germline	Chr2:47803686	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5 Condition: not provided Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA012865	rs_267608096	5 SubmittersRCV000074854 RCV002453381 RCV003450967 RCV006258998 RCV006461414
NM_000179.3(MSH6):c.3439-1G>T	SNV Germline	Chr2:47804909	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Mismatch repair cancer syndrome 3 Lynch syndrome 5 Endometrial carcinoma Endometrial carcinoma Hereditary nonpolyposis colon cancer Lynch syndrome 5 Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA012908	rs_587779263	17 SubmittersRCV000074858 RCV000215652 RCV000491481 RCV000629776 RCV002272051 RCV002483121 RCV003460684 RCV003483460 RCV003450968 RCV004808574
NM_000179.3(MSH6):c.3439-2A>G	SNV Germline	Chr2:47804908	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma Carcinoma of colon Hereditary nonpolyposis colon cancer Breast and/or ovarian cancer MSH6-related disorder	Reviewed By Expert Panel	CA012917	rs_267608098	19 SubmittersRCV000074859 RCV000130487 RCV000202159 RCV000524176 RCV000576575 RCV001292865 RCV001353640 RCV001526853 RCV001798254 RCV004739335
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser)	SNV Germline	Chr2:47804940	Likely pathogenic	Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Lynch syndrome 4 Inherited MMR deficiency (Lynch syndrome)	Criteria Provided Multiple Submitters No Conflicts	CA012971	rs_587779264	7 SubmittersRCV000131534 RCV000202300 RCV002510780 RCV002513797 RCV003450969 RCV004555853 RCV004584187
NM_000179.3(MSH6):c.3487G>T (p.Glu1163Ter)	SNV Germline	Chr2:47804958	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA013109	rs_587779267	11 SubmittersRCV000074867 RCV000115417 RCV000491292 RCV000791426 RCV003450970 RCV003466948 RCV005406804
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)	SNV Germline	Chr2:47804984	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome MSH6-related disorder Mismatch repair cancer syndrome 3 Lynch syndrome 5 Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA013188	rs_63749834	14 SubmittersRCV000163879 RCV000433073 RCV000524179 RCV000662442 RCV001081095 RCV003997091 RCV004542743 RCV005394304
NM_000179.3(MSH6):c.3543C>G (p.Asp1181Glu)	SNV Germline	Chr2:47805014	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 not specified Lynch syndrome Mismatch repair cancer syndrome 3 Endometrial carcinoma Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA013331	rs_267608100	10 SubmittersRCV000486053 RCV000565574 RCV000556518 RCV000662821 RCV002267830 RCV003997092 RCV005394305
NM_000179.3(MSH6):c.3563G>A (p.Ser1188Asn)	SNV Germline	Chr2:47805624	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma Lynch syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA013469	rs_587779272	11 SubmittersRCV000478227 RCV000582224 RCV000685790 RCV003450973 RCV004566921 RCV004804043 RCV005638417
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)	SNV Germline	Chr2:47805638	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Lynch syndrome 5 Lynch syndrome Endometrial carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA013478	rs_63751328	9 SubmittersRCV000166108 RCV000679239 RCV001302789 RCV003230394 RCV003450974 RCV003997093 RCV003460687
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val)	SNV Germline	Chr2:47805662	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Endometrial carcinoma Mismatch repair cancer syndrome 1 Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA013502	rs_182024561	8 SubmittersRCV000220560 RCV000483164 RCV000684810 RCV000767044 RCV003466949 RCV005862968
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr)	SNV Germline	Chr2:47805666	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Mismatch repair cancer syndrome 1 Endometrial carcinoma Lynch syndrome 5 Lynch syndrome not specified	Criteria Provided Conflicting Classifications	CA013519	rs_587779273	11 SubmittersRCV000129370 RCV000212685 RCV000524181 RCV000662842 RCV000764434 RCV003997094 RCV003987347
NM_000179.3(MSH6):c.3647-1G>A	SNV Germline	Chr2:47806203	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 5	Reviewed By Expert Panel	CA013645	rs_587779279	12 SubmittersRCV000074902 RCV000491917 RCV000791366 RCV001781398 RCV002467438
NM_000179.3(MSH6):c.3647-2A>C	SNV Germline	Chr2:47806202	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 5	Reviewed By Expert Panel	CA013656	rs_267608111	7 SubmittersRCV000074903 RCV001531316 RCV001854283 RCV002345375 RCV003335091
NM_000179.3(MSH6):c.3656C>T (p.Thr1219Ile)	SNV Germline/somatic	Chr2:47806213	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Neoplasm Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA013759	rs_63750949	5 SubmittersRCV000572978 RCV001222841 RCV004668770 RCV003450976
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)	SNV Germline	Chr2:47806231	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms not specified Malignant tumor of breast Ovarian cancer Endometrial carcinoma Lynch syndrome	Criteria Provided Conflicting Classifications	CA013768	rs_63750370	16 SubmittersRCV000160696 RCV000212686 RCV000410774 RCV000524182 RCV000780485 RCV001354592 RCV003153344 RCV003460688 RCV003997095
NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu)	SNV Germline	Chr2:47806236	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA013789	rs_587779282	9 SubmittersRCV000217680 RCV000574037 RCV000625244 RCV001854284 RCV004566922
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser)	SNV Germline	Chr2:47806281	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Endometrial carcinoma Lynch syndrome Mismatch repair cancer syndrome 1 Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA014030	rs_587779285	8 SubmittersRCV000216969 RCV000684809 RCV000767045 RCV003460689 RCV004017385 RCV005862969
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)	SNV Germline	Chr2:47806319	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Condition: not provided MSH6-related disorder Lynch syndrome	Criteria Provided Conflicting Classifications	CA014214	rs_375459388	13 SubmittersRCV000160699 RCV000212689 RCV000408995 RCV000524187 RCV000587284 RCV004537280 RCV003997096
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter)	SNV Germline	Chr2:47806325	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma Mismatch repair cancer syndrome 1 Lynch syndrome 5	Reviewed By Expert Panel	CA014232	rs_63751058	13 SubmittersRCV000074926 RCV000202271 RCV000491038 RCV000546623 RCV003450979 RCV003460691 RCV003483461
NM_000179.3(MSH6):c.3772C>T (p.Gln1258Ter)	SNV Germline	Chr2:47806329	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA014244	rs_63750554	3 SubmittersRCV000074927 RCV004696680 RCV003593872
NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys)	SNV Germline	Chr2:47806344	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 not specified Endometrial carcinoma Lynch syndrome	Criteria Provided Conflicting Classifications	CA014275	rs_367912290	12 SubmittersRCV000164843 RCV000485038 RCV000559935 RCV000659897 RCV003235031 RCV003460692 RCV004804044
NM_000179.3(MSH6):c.3838C>T (p.Gln1280Ter)	SNV Germline	Chr2:47806488	Pathogenic	Lynch syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA014495	rs_63750139	8 SubmittersRCV000074940 RCV000603416 RCV001229855 RCV002362701 RCV001723643
NM_000179.3(MSH6):c.383G>T (p.Arg128Leu)	SNV Germline	Chr2:47791049	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Lynch syndrome 5 Endometrial carcinoma not specified Endometrial carcinoma Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA014504	rs_63750143	12 SubmittersRCV000074941 RCV000165162 RCV000485426 RCV000545223 RCV000765680 RCV002265595 RCV004566923 RCV005600636
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)	SNV Germline	Chr2:47806501	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Lynch syndrome 5 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Endometrial carcinoma Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA014580	rs_63750836	16 SubmittersRCV000131709 RCV000454725 RCV000662523 RCV000759868 RCV001082428 RCV001357732 RCV003448259 RCV003492403
NM_000179.3(MSH6):c.3930G>C (p.Glu1310Asp)	SNV Germline	Chr2:47806580	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided not specified Lynch syndrome Endometrial carcinoma Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA014716	rs_267608129	9 SubmittersRCV000129017 RCV000524194 RCV001548132 RCV001804807 RCV003997097 RCV004566924 RCV005600637
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)	SNV Germline	Chr2:47806611	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, early onset not specified Lynch syndrome 5 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Malignant tumor of breast MSH6-related disorder	Criteria Provided Conflicting Classifications	CA014874	rs_41295278	23 SubmittersRCV000074958 RCV000115425 RCV000148646 RCV000202255 RCV000410058 RCV000590664 RCV001082577 RCV001355442 RCV004528273
NM_000179.3(MSH6):c.4001+2T>C	SNV Germline	Chr2:47806653	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 5	Reviewed By Expert Panel	CA015138	rs_267608131	7 SubmittersRCV000074969 RCV000491060 RCV000812440 RCV002267832 RCV003450986
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)	SNV Germline	Chr2:47806651	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA015202	rs_267608122	20 SubmittersRCV000074974 RCV000160701 RCV000491705 RCV000542786 RCV000576708 RCV001355904 RCV004799778
NM_000179.3(MSH6):c.4002-10T>A	SNV Germline	Chr2:47806769	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon See cases Breast and/or ovarian cancer MSH6-related disorder	Criteria Provided Conflicting Classifications	CA015230	rs_545466048	19 SubmittersRCV000160702 RCV000590285 RCV000771079 RCV000986753 RCV001081736 RCV001357666 RCV002287361 RCV003149725 RCV004542745
NM_000179.3(MSH6):c.426G>A (p.Trp142Ter)	SNV Germline	Chr2:47791092	Pathogenic	Lynch syndrome Lynch syndrome 1 Hereditary cancer-predisposing syndrome Lynch syndrome 5 Condition: not provided Endometrial carcinoma	Reviewed By Expert Panel	CA015491	rs_63750342	6 SubmittersRCV000074987 RCV000144625 RCV002326786 RCV003450987 RCV003311675 RCV003460698
NM_000179.3(MSH6):c.457+2T>A	SNV Germline	Chr2:47791125	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA015582	rs_267608036	1 SubmittersRCV000074993
NM_000179.3(MSH6):c.458-17A>G	SNV Germline	Chr2:47795877	Conflicting classifications of pathogenicity	Lynch syndrome 5 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Conflicting Classifications	CA015619	rs_554847828	5 SubmittersRCV000662516 RCV000774587 RCV001854287
NM_000179.3(MSH6):c.458-1G>A	SNV Germline	Chr2:47795893	Likely pathogenic	Lynch syndrome 5 Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA015627	rs_267608035	4 SubmittersRCV003450988 RCV000075000 RCV001190339
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)	SNV Germline	Chr2:47795903	Pathogenic	Lynch syndrome Lynch syndrome 1 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 5 Carcinoma of colon Endometrial carcinoma MSH6-related disorder Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA015662	rs_63749873	20 SubmittersRCV000075003 RCV000172813 RCV000201956 RCV000524207 RCV000490955 RCV000576312 RCV001357340 RCV003466952 RCV004739337 RCV004782043
NM_000179.3(MSH6):c.599C>A (p.Ser200Ter)	SNV Germline	Chr2:47796035	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA015935	rs_63751077	3 SubmittersRCV000075008 RCV005089502 RCV004814996
NM_000179.3(MSH6):c.642C>A (p.Tyr214Ter)	SNV Germline	Chr2:47798625	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA016077	rs_1800937	4 SubmittersRCV000075015 RCV001071476 RCV003162479
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter)	SNV Germline	Chr2:47798625	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 3 Endometrial carcinoma Lynch syndrome 5 Lynch syndrome 5	Reviewed By Expert Panel	CA016086	rs_1800937	9 SubmittersRCV000075016 RCV000485263 RCV000703480 RCV001025256 RCV002477214 RCV003450990
NM_000179.3(MSH6):c.652A>T (p.Lys218Ter)	SNV Germline	Chr2:47798635	Pathogenic	Lynch syndrome Malignant tumor of breast Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA016159	rs_587779315	4 SubmittersRCV000075019 RCV001355616 RCV001386352 RCV002362702
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)	SNV Germline	Chr2:47798646	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Abnormality of the ovary Breast and/or ovarian cancer Hereditary cancer Inherited MMR deficiency (Lynch syndrome)	Criteria Provided Conflicting Classifications	CA016186	rs_41557217	27 SubmittersRCV000115440 RCV000121575 RCV000588752 RCV000659887 RCV001083709 RCV001353587 RCV001564013 RCV001798257 RCV003492405 RCV006555418
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)	SNV Germline	Chr2:47798677	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA016261	rs_587779318	11 SubmittersRCV000075025 RCV000412800 RCV001383732 RCV002362703 RCV003450991 RCV003460700
NM_000179.3(MSH6):c.706C>T (p.Gln236Ter)	SNV Germline	Chr2:47798689	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA016297	rs_63750996	2 SubmittersRCV000075026 RCV002362704
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)	SNV Germline	Chr2:47798701	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Carcinoma of colon Lynch syndrome 5 Endometrial carcinoma Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA016325	rs_63750019	18 SubmittersRCV000075028 RCV000220361 RCV000657653 RCV000704209 RCV001310159 RCV001358367 RCV002288564 RCV003460701 RCV005237500
NM_000179.3(MSH6):c.730C>T (p.Gln244Ter)	SNV Germline	Chr2:47798713	Pathogenic	Lynch syndrome Lynch syndrome 5 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA016353	rs_267608066	6 SubmittersRCV000075029 RCV000984323 RCV002381377 RCV002513799 RCV003144122
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)	SNV Germline	Chr2:47783306	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Mismatch repair cancer syndrome 1 Endometrial carcinoma Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome MSH6-related disorder Mismatch repair cancer syndrome 3 Endometrial carcinoma Lynch syndrome 5 Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA016371	rs_267608026	21 SubmittersRCV000075031 RCV000115442 RCV000417385 RCV000524214 RCV000765674 RCV001082180 RCV003482130 RCV004528274 RCV005394306 RCV005420539
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)	SNV Germline	Chr2:47798725	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA016391	rs_63749980	15 SubmittersRCV000075032 RCV000486750 RCV000490932 RCV000524215 RCV001193103 RCV002288565 RCV003460702
NM_000179.3(MSH6):c.751A>G (p.Ile251Val)	SNV Germline	Chr2:47798734	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Endometrial carcinoma not specified	Criteria Provided Conflicting Classifications	CA016421	rs_554884560	10 SubmittersRCV000215096 RCV000220612 RCV000662409 RCV000630227 RCV003997102 RCV003460703 RCV006273095
NM_000179.3(MSH6):c.753A>G (p.Ile251Met)	SNV Germline	Chr2:47798736	Conflicting classifications of pathogenicity	not specified Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome Condition: not provided Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA016429	rs_587779321	7 SubmittersRCV000506023 RCV000803732 RCV001026537 RCV003997103 RCV004767059 RCV005357450
NM_000179.3(MSH6):c.755C>G (p.Ser252Ter)	SNV Germline	Chr2:47798738	Pathogenic	Lynch syndrome Endometrial carcinoma Lynch syndrome 5	Reviewed By Expert Panel	CA016437	rs_267608048	3 SubmittersRCV000075035 RCV001354709 RCV003450992
NM_000179.3(MSH6):c.806C>G (p.Thr269Ser)	SNV Germline	Chr2:47798789	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided not specified Mismatch repair cancer syndrome 3 Endometrial carcinoma Lynch syndrome 5 Lynch syndrome	Criteria Provided Conflicting Classifications	CA016470	rs_587779322	8 SubmittersRCV000568144 RCV000684794 RCV000759873 RCV002267836 RCV002504983 RCV003997104
NM_000179.3(MSH6):c.814G>T (p.Glu272Ter)	SNV Germline	Chr2:47798797	Pathogenic	Lynch syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA016485	rs_63750552	3 SubmittersRCV000075038 RCV003450994 RCV005089503
NM_000179.3(MSH6):c.854G>T (p.Ser285Ile)	SNV Germline	Chr2:47798837	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer Condition: not provided Hereditary nonpolyposis colorectal neoplasms not specified Lynch syndrome Endometrial carcinoma Mismatch repair cancer syndrome 3 Endometrial carcinoma Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA016543	rs_63750878	11 SubmittersRCV000160657 RCV000148648 RCV000212635 RCV000556949 RCV001174593 RCV003997105 RCV004566926 RCV005025120
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)	SNV Germline	Chr2:47798867	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome not specified Lynch syndrome 5 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer	Criteria Provided Conflicting Classifications	CA016588	rs_267608051	18 SubmittersRCV000075042 RCV000115445 RCV000212636 RCV000410872 RCV000512927 RCV000524217 RCV004700373
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)	SNV Germline	Chr2:47798875	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma Lynch syndrome 1 Mismatch repair cancer syndrome 3 Lynch syndrome 5 Endometrial carcinoma Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA016604	rs_146816935	17 SubmittersRCV000075043 RCV000130865 RCV000149892 RCV000551832 RCV003450996 RCV003466953 RCV005861043 RCV005394307 RCV006439624
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)	SNV Germline	Chr3:37020438	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Muir-Torré syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Malignant tumor of breast Hereditary breast ovarian cancer syndrome Lynch syndrome MLH1-related disorder Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer	Criteria Provided Conflicting Classifications	CA004051	rs_63751467	20 SubmittersRCV000128912 RCV000148621 RCV000220791 RCV000524219 RCV000656860 RCV000764485 RCV001356843 RCV003483462 RCV003997106 RCV004748551 RCV005246613 RCV004700374
NM_000249.4(MLH1):c.1037A>G (p.Gln346Arg)	SNV Germline	Chr3:37020462	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA004077	rs_63751609	2 SubmittersRCV000075079 RCV003593873
NM_000249.4(MLH1):c.1038+1G>C	SNV Germline/somatic	Chr3:37020464	Likely pathogenic	Lynch syndrome Lynch syndrome 1 Lynch-like syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Reviewed By Expert Panel	CA004088	rs_267607816	6 SubmittersRCV000075082 RCV001093692 RCV001249908 RCV003450998 RCV002514334 RCV005357454
NM_000249.4(MLH1):c.1038G>A (p.Gln346=)	SNV Germline	Chr3:37020463	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA004100	rs_63751715	10 SubmittersRCV000075085 RCV000214854 RCV000506818 RCV000629976 RCV003450999 RCV006262326
NM_000249.4(MLH1):c.1038G>C (p.Gln346His)	SNV Germline	Chr3:37020463	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004104	rs_63751715	3 SubmittersRCV000075086 RCV002390211 RCV002243695
NM_000249.4(MLH1):c.1038G>T (p.Gln346His)	SNV Germline	Chr3:37020463	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA004107	rs_63751715	2 SubmittersRCV000075087 RCV002390212
NM_000249.4(MLH1):c.1039-1G>A	SNV Germline	Chr3:37025636	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004114	rs_267607819	10 SubmittersRCV000075088 RCV000153506 RCV001201713 RCV002390213 RCV003451000
NM_000249.4(MLH1):c.1039-2A>G	SNV Germline/somatic	Chr3:37025635	Likely pathogenic	Lynch syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 MLH1-related disorder Hereditary nonpolyposis colorectal neoplasms Familial cancer of breast	Reviewed By Expert Panel	CA004118	rs_267607815	7 SubmittersRCV000075090 RCV003441739 RCV003137609 RCV003390766 RCV002514335 RCV005357455
NM_000249.4(MLH1):c.1039-2A>T	SNV Germline	Chr3:37025635	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA004123	rs_267607815	2 SubmittersRCV000075091 RCV003162481
NM_000249.4(MLH1):c.104T>G (p.Met35Arg)	SNV Germline	Chr3:36993651	Pathogenic	Condition: not provided Lynch syndrome Hereditary cancer-predisposing syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004200	rs_63749906	5 SubmittersRCV001269567 RCV000075100 RCV002399429 RCV001353714 RCV003451002
NM_000249.4(MLH1):c.109G>A (p.Glu37Lys)	SNV Germline/somatic	Chr3:36993656	Pathogenic/Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Multiple Submitters No Conflicts	CA004328	rs_63751012	4 SubmittersRCV000075110 RCV000693918 RCV001357016 RCV003451004
NM_000249.4(MLH1):c.109G>T (p.Glu37Ter)	SNV Germline	Chr3:36993656	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA004335	rs_63751012	1 SubmittersRCV000075111
NM_000249.4(MLH1):c.112A>C (p.Asn38His)	SNV Germline	Chr3:36993659	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004399	rs_63750580	5 SubmittersRCV000075115 RCV000129232 RCV001034681 RCV001804811 RCV003451006
NM_000249.4(MLH1):c.113A>G (p.Asn38Ser)	SNV Germline	Chr3:36993660	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA004445	rs_587778888	3 SubmittersRCV000075118 RCV000688444 RCV004943740
NM_000249.4(MLH1):c.114C>G (p.Asn38Lys)	SNV Germline	Chr3:36993661	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004476	rs_267607706	5 SubmittersRCV000075121 RCV001206557 RCV001176886 RCV003451007
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)	SNV Germline	Chr3:37025751	Conflicting classifications of pathogenicity	Lynch syndrome not specified Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Hereditary cancer Childhood neoplasm	Criteria Provided Conflicting Classifications	CA004503	rs_63750760	16 SubmittersRCV000075124 RCV000202088 RCV000217569 RCV000490290 RCV000524225 RCV000656862 RCV000764489 RCV001030628 RCV003149731 RCV003492407 RCV005621869
NM_000249.4(MLH1):c.116+1G>A	SNV Germline	Chr3:36993664	Likely pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA004527	rs_267607709	8 SubmittersRCV000075127 RCV000709737 RCV001294059 RCV001284001 RCV002354257 RCV002514337
NM_000249.4(MLH1):c.116+5G>C	SNV Germline	Chr3:36993668	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004556	rs_267607710	8 SubmittersRCV000075129 RCV000413453 RCV000694368 RCV000776333 RCV001358274 RCV003451008
NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp)	SNV Germline	Chr3:37025763	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms not specified Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA004549	rs_61751644	10 SubmittersRCV000075132 RCV000165994 RCV000627719 RCV000582826 RCV001563149 RCV003444197
NM_000249.4(MLH1):c.1171C>T (p.Gln391Ter)	SNV Germline	Chr3:37025769	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Reviewed By Expert Panel	CA004606	rs_587778894	5 SubmittersRCV000075144 RCV001034673 RCV002288566 RCV005357457
NM_000249.4(MLH1):c.1192C>T (p.Gln398Ter)	SNV Germline	Chr3:37025790	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA004676	rs_63750483	4 SubmittersRCV000075146 RCV001383026 RCV003451011 RCV002336222
NM_000249.4(MLH1):c.121G>C (p.Asp41His)	SNV Germline	Chr3:36996623	Pathogenic	Lynch syndrome 1 Condition: not provided Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA004758	rs_267607713	3 SubmittersRCV000075155 RCV000255808 RCV003593875
NM_000249.4(MLH1):c.1225C>T (p.Gln409Ter)	SNV Germline	Chr3:37025823	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Reviewed By Expert Panel	CA004765	rs_63751153	6 SubmittersRCV000075156 RCV000541219 RCV002362706 RCV003451013 RCV005229881
NM_000249.4(MLH1):c.122A>G (p.Asp41Gly)	SNV Germline	Chr3:36996624	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004780	rs_63751094	5 SubmittersRCV000675183 RCV001216631 RCV002362707 RCV003451014
NM_000249.4(MLH1):c.1266C>T (p.Gly422=)	SNV Germline	Chr3:37025864	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided not specified Lynch syndrome MLH1-related disorder	Criteria Provided Conflicting Classifications	CA004884	rs_63750791	13 SubmittersRCV000218731 RCV000524230 RCV000662538 RCV001355583 RCV001818238 RCV003997107 RCV004748552
NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter)	SNV Germline	Chr3:37025874	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004908	rs_63750316	9 SubmittersRCV000075164 RCV000571335 RCV000690382 RCV003129769
NM_000249.4(MLH1):c.1327A>C (p.Lys443Gln)	SNV Germline	Chr3:37025925	Conflicting classifications of pathogenicity	Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome	Criteria Provided Conflicting Classifications	CA004995	rs_34213726	6 SubmittersRCV000144608 RCV000219360 RCV000697163 RCV001703974 RCV003997108
NM_000249.4(MLH1):c.1409+1G>A	SNV Germline	Chr3:37026008	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA005246	rs_267607825	11 SubmittersRCV000075192 RCV000220831 RCV000524237 RCV000519388 RCV003451024 RCV004782044
NM_000249.4(MLH1):c.1409+1G>C	SNV Germline	Chr3:37026008	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Familial cancer of breast	Reviewed By Expert Panel	CA005254	rs_267607825	6 SubmittersRCV000075193 RCV002390216 RCV002281908 RCV002513800 RCV003451025 RCV005357460
NM_000249.4(MLH1):c.1409+2T>G	SNV Germline	Chr3:37026009	Likely pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA005261	rs_587778911	1 SubmittersRCV000075194
NM_000249.4(MLH1):c.1420C>T (p.Arg474Trp)	SNV Germline/somatic	Chr3:37028794	Conflicting classifications of pathogenicity	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 not specified	Criteria Provided Conflicting Classifications	CA005399	rs_147939838	10 SubmittersRCV000075209 RCV000679267 RCV000820563 RCV001011503 RCV003460706 RCV004689443
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln)	SNV Germline	Chr3:37028795	Conflicting classifications of pathogenicity	Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome not specified Condition: not provided Lynch syndrome	Criteria Provided Conflicting Classifications	CA005413	rs_63751083	10 SubmittersRCV000662517 RCV000685340 RCV000776166 RCV002247468 RCV003129770 RCV003997111
NM_000249.4(MLH1):c.142C>T (p.Gln48Ter)	SNV Germline	Chr3:36996644	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005419	rs_587778913	8 SubmittersRCV000075212 RCV000219426 RCV001214512 RCV001270940 RCV002390218 RCV003451027
NM_000249.4(MLH1):c.143A>C (p.Gln48Pro)	SNV Germline	Chr3:36996645	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA005432	rs_587778914	4 SubmittersRCV000075213 RCV001069994 RCV003451028 RCV004943741
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)	SNV Germline/somatic	Chr3:37028833	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Lynch syndrome 1 Lynch-like syndrome Carcinoma of colon MLH1-related disorder Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA005475	rs_63749795	26 SubmittersRCV000075218 RCV000128870 RCV000255034 RCV000524240 RCV000662808 RCV000763103 RCV001093677 RCV001249944 RCV001353584 RCV004748554 RCV006261949
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln)	SNV Germline	Chr3:37028834	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Breast and/or ovarian cancer Lynch syndrome not specified	Criteria Provided Conflicting Classifications	CA005483	rs_587778917	12 SubmittersRCV000218037 RCV000480533 RCV000630048 RCV001257464 RCV003492408 RCV003997113 RCV004595908
NM_000249.4(MLH1):c.1462A>T (p.Lys488Ter)	SNV Germline	Chr3:37028836	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005491	rs_587778918	2 SubmittersRCV000075220 RCV005600639
NM_000249.4(MLH1):c.146T>A (p.Val49Glu)	SNV Germline	Chr3:36996648	Pathogenic	Lynch syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005522	rs_63750098	2 SubmittersRCV000075223 RCV005394310
NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr)	SNV Germline	Chr3:37028848	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms not specified Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA005528	rs_63751145	14 SubmittersRCV000075224 RCV000132236 RCV000212538 RCV000524241 RCV003478994 RCV003474657 RCV005394311
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg)	SNV Germline	Chr3:37028861	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA005534	rs_63750226	13 SubmittersRCV000221321 RCV000409591 RCV000483364 RCV000627722 RCV000764493 RCV002228178 RCV003997114
NM_000249.4(MLH1):c.1528C>T (p.Gln510Ter)	SNV Germline	Chr3:37028902	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005676	rs_63749923	4 SubmittersRCV000075235 RCV000699744 RCV002390219 RCV003451030
NM_000249.4(MLH1):c.1534G>T (p.Glu512Ter)	SNV Germline	Chr3:37028908	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005696	rs_63751472	5 SubmittersRCV000075236 RCV001786332 RCV001854291 RCV002399430 RCV003451031
NM_000249.4(MLH1):c.1549G>T (p.Gly517Ter)	SNV Germline	Chr3:37028923	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA005724	rs_63751705	2 SubmittersRCV000075239 RCV002399431
NM_000249.4(MLH1):c.1558+1G>T	SNV Germline	Chr3:37028933	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome 1	Reviewed By Expert Panel	CA005817	rs_267607832	4 SubmittersRCV000075246 RCV002399432 RCV003315592 RCV001804813
NM_000249.4(MLH1):c.1558+2T>G	SNV Germline	Chr3:37028934	Likely pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA005833	rs_267607831	1 SubmittersRCV000075248
NM_000249.4(MLH1):c.1559-1G>A	SNV Germline	Chr3:37040185	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Carcinoma of colon Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005884	rs_267607837	6 SubmittersRCV000075253 RCV001238289 RCV001267988 RCV001358119 RCV002399433 RCV003451032
NM_000249.4(MLH1):c.1559-1G>C	SNV Germline	Chr3:37040185	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer Lynch syndrome 1	Reviewed By Expert Panel	CA005891	rs_267607837	10 SubmittersRCV000075254 RCV000539690 RCV001012154 RCV001091800 RCV003448260 RCV003455989 RCV005237501 RCV005644505
NM_000249.4(MLH1):c.1559-1G>T	SNV Germline	Chr3:37040185	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005896	rs_267607837	9 SubmittersRCV000075255 RCV000485205 RCV000799045 RCV001193241 RCV002399434 RCV003451033
NM_000249.4(MLH1):c.1559-2A>C	SNV Germline	Chr3:37040184	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Reviewed By Expert Panel	CA005902	rs_267607836	4 SubmittersRCV000075256 RCV000524243 RCV003451034 RCV004696681
NM_000249.4(MLH1):c.1559-2A>G	SNV Germline	Chr3:37040184	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA005907	rs_267607836	7 SubmittersRCV000075257 RCV000410283 RCV000520869 RCV001201368 RCV004943742
NM_000249.4(MLH1):c.1559-2A>T	SNV Germline	Chr3:37040184	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA005913	rs_267607836	2 SubmittersRCV000075258 RCV002399435
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)	SNV Germline	Chr3:37040192	Conflicting classifications of pathogenicity	Lynch syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms not specified Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA005937	rs_63751630	15 SubmittersRCV000075265 RCV000483197 RCV000662491 RCV000566893 RCV000627718 RCV001778702 RCV005025121
NM_000249.4(MLH1):c.1574T>A (p.Leu525Ter)	SNV Germline	Chr3:37040201	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005996	rs_587778929	4 SubmittersRCV000075271 RCV001180387 RCV003451038
NM_000249.4(MLH1):c.1609C>T (p.Gln537Ter)	SNV Germline	Chr3:37040236	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006033	rs_63751277	5 SubmittersRCV000075275 RCV001354465 RCV002390220 RCV002513801 RCV003451039
NM_000249.4(MLH1):c.1613G>A (p.Trp538Ter)	SNV Germline	Chr3:37040240	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006106	rs_587778933	4 SubmittersRCV000075276 RCV000567360 RCV000545817 RCV003451040
NM_000249.4(MLH1):c.1614G>A (p.Trp538Ter)	SNV Germline	Chr3:37040241	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006115	rs_267607842	3 SubmittersRCV000075277 RCV002399437 RCV003451041
NM_000249.4(MLH1):c.1624C>T (p.Gln542Ter)	SNV Germline	Chr3:37040251	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006166	rs_63750192	8 SubmittersRCV000075283 RCV000657575 RCV001201351 RCV002399438 RCV003451042
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)	SNV Germline	Chr3:37040260	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Breast and/or ovarian cancer Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome MLH1-related disorder Lynch syndrome	Criteria Provided Conflicting Classifications	CA006190	rs_267607840	21 SubmittersRCV000130610 RCV000212542 RCV000524244 RCV000606136 RCV000656863 RCV003492409 RCV005025122 RCV003935009 RCV003997116
NM_000249.4(MLH1):c.1640T>A (p.Leu547Ter)	SNV Germline	Chr3:37040267	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA006204	rs_63750300	3 SubmittersRCV000075288 RCV002399439 RCV002514340
NM_000249.4(MLH1):c.1644C>G (p.Tyr548Ter)	SNV Germline	Chr3:37040271	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA006215	rs_63751087	2 SubmittersRCV000075289 RCV002399440
NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro)	SNV Germline	Chr3:37040276	Pathogenic	Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006231	rs_63750193	4 SubmittersRCV000075292 RCV000570739 RCV001212034 RCV003451045
NM_000249.4(MLH1):c.1664T>C (p.Leu555Pro)	SNV Germline	Chr3:37040291	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006269	rs_587778937	3 SubmittersRCV000075296 RCV002399441 RCV003451046
NM_000249.4(MLH1):c.1667G>T (p.Ser556Ile)	SNV Germline	Chr3:37040294	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA006292	rs_63751596	1 SubmittersRCV000075299
NM_000249.4(MLH1):c.1668-1G>A	SNV Germline/somatic	Chr3:37042267	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006307	rs_267607845	10 SubmittersRCV000075300 RCV000214110 RCV000629693 RCV001353428 RCV003451048
NM_000249.4(MLH1):c.1668-1G>T	SNV Germline	Chr3:37042267	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006313	rs_267607845	5 SubmittersRCV000075301 RCV001854292 RCV003451049
NM_000249.4(MLH1):c.1668-3C>A	SNV Germline	Chr3:37042265	Likely pathogenic	Lynch syndrome Carcinoma of colon Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA006330	rs_267607844	3 SubmittersRCV000075303 RCV000503705 RCV002399442
NM_000249.4(MLH1):c.1669G>T (p.Glu557Ter)	SNV Germline	Chr3:37042269	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006349	rs_63751244	5 SubmittersRCV000075308 RCV000791445 RCV002399443 RCV003455990
NM_000249.4(MLH1):c.1672G>T (p.Glu558Ter)	SNV Germline	Chr3:37042272	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1	Reviewed By Expert Panel	CA006355	rs_63751081	3 SubmittersRCV000075309 RCV002399444 RCV005861044
NM_000249.4(MLH1):c.1683C>G (p.Tyr561Ter)	SNV Germline	Chr3:37042283	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006384	rs_63751393	4 SubmittersRCV000075312 RCV000703498 RCV001012704 RCV003451050
NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter)	SNV Germline	Chr3:37042284	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Lynch syndrome 1 Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006391	rs_63751460	6 SubmittersRCV000075313 RCV001240104 RCV001192578 RCV001310198 RCV002408574 RCV003451051
NM_000249.4(MLH1):c.1693A>T (p.Ile565Phe)	SNV Germline	Chr3:37042293	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA006426	rs_63750062	8 SubmittersRCV000160538 RCV000234862 RCV000627705 RCV001354474 RCV005246618
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro)	SNV Germline/somatic	Chr3:37042321	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA006493	rs_63751608	4 SubmittersRCV000075320 RCV000698457 RCV002408575
NM_000249.4(MLH1):c.1731+1G>A	SNV Germline/somatic	Chr3:37042332	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch-like syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006527	rs_267607853	9 SubmittersRCV000075322 RCV000574302 RCV001250003 RCV001579372 RCV002514341 RCV003451053
NM_000249.4(MLH1):c.1731+1G>C	SNV Germline/somatic	Chr3:37042332	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA006535	rs_267607853	5 SubmittersRCV000075323 RCV000693129 RCV003451054 RCV002408576
NM_000249.4(MLH1):c.1731+1G>T	SNV Germline	Chr3:37042332	Likely pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA006540	rs_267607853	7 SubmittersRCV000075324 RCV000576509 RCV000685725 RCV001567027 RCV002408577
NM_000249.4(MLH1):c.1731+2T>G	SNV Germline	Chr3:37042333	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA006555	rs_267607856	4 SubmittersRCV000075326 RCV000797048 RCV003451055 RCV006406650
NM_000249.4(MLH1):c.1731+3A>T	SNV Germline	Chr3:37042334	Likely pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA006561	rs_267607851	1 SubmittersRCV000075327
NM_000249.4(MLH1):c.1731+5G>A	SNV Germline	Chr3:37042336	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Reviewed By Expert Panel	CA006570	rs_267607850	7 SubmittersRCV000075328 RCV001012888 RCV001201385 RCV002279946 RCV003451056 RCV005357461
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)	SNV Germline	Chr3:37042331	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer Colon cancer Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Breast and/or ovarian cancer MLH1-related disorder	Reviewed By Expert Panel	CA006585	rs_63751657	21 SubmittersRCV000075331 RCV000132025 RCV000202231 RCV000524246 RCV000662481 RCV001553748 RCV001580146 RCV001804815 RCV002483122 RCV003492410 RCV004748555
NM_000249.4(MLH1):c.1732-1G>A	SNV Germline	Chr3:37047518	Pathogenic	Lynch syndrome Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006615	rs_267607854	5 SubmittersRCV000075333 RCV001355292 RCV002408578 RCV002514342 RCV003451057
NM_000249.4(MLH1):c.1732-2A>G	SNV Germline	Chr3:37047517	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006625	rs_267607852	5 SubmittersRCV000075335 RCV000506870 RCV001386351 RCV002399446 RCV003451058
NM_000249.4(MLH1):c.1732-2A>T	SNV Germline	Chr3:37047517	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006632	rs_267607852	2 SubmittersRCV000075336 RCV003451059
NM_000249.4(MLH1):c.1744C>G (p.Leu582Val)	SNV Germline	Chr3:37047531	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome not specified Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA006690	rs_63751713	7 SubmittersRCV000571505 RCV000627697 RCV001030630 RCV001193957 RCV004019101 RCV003997117
NM_000249.4(MLH1):c.1745T>C (p.Leu582Pro)	SNV Germline	Chr3:37047532	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA006717	rs_63751616	1 SubmittersRCV000075347
NM_000249.4(MLH1):c.1766C>A (p.Ala589Asp)	SNV Germline	Chr3:37047553	Likely pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA006836	rs_63750016	3 SubmittersRCV000075360 RCV003451065 RCV005672318
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter)	SNV Germline	Chr3:37047577	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA006929	rs_63750604	9 SubmittersRCV000075365 RCV000479277 RCV000565193 RCV001354093 RCV003451068 RCV003153348 RCV003492411
NM_000249.4(MLH1):c.1810A>T (p.Lys604Ter)	SNV Germline	Chr3:37047597	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Reviewed By Expert Panel	CA006984	rs_63750386	4 SubmittersRCV000075370 RCV002255277 RCV003451069 RCV000985779
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter)	SNV Germline	Chr3:36996686	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007117	rs_63751428	9 SubmittersRCV000075379 RCV000217644 RCV000254916 RCV000694109 RCV003451072
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)	SNV Germline	Chr3:37047639	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer Lynch syndrome	Criteria Provided Conflicting Classifications	CA007156	rs_35001569	21 SubmittersRCV000114852 RCV000132423 RCV000174992 RCV000663286 RCV001083570 RCV003149734 RCV003997118
NM_000249.4(MLH1):c.1852A>T (p.Lys618Ter)	SNV Germline	Chr3:37047639	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA007164	rs_35001569	1 SubmittersRCV000075381
NM_000249.4(MLH1):c.1855G>C (p.Ala619Pro)	SNV Germline	Chr3:37047642	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007222	rs_267607866	4 SubmittersRCV000075387 RCV000165622 RCV000548274 RCV003451073
NM_000249.4(MLH1):c.1865T>C (p.Leu622Pro)	SNV Germline	Chr3:37047652	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA007245	rs_63750693	3 SubmittersRCV000075390 RCV001201390 RCV002408581
NM_000249.4(MLH1):c.1875T>G (p.Tyr625Ter)	SNV Germline	Chr3:37047662	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA007270	rs_63751415	1 SubmittersRCV000075393
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn)	SNV Germline	Chr3:36996689	Pathogenic/Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Multiple Submitters No Conflicts	CA007334	rs_63750850	6 SubmittersRCV000075399 RCV000160535 RCV000212515 RCV000694220 RCV003460707
NM_000249.4(MLH1):c.1896+1G>A	SNV Germline	Chr3:37047684	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007410	rs_267607867	4 SubmittersRCV000075404 RCV000541555 RCV002408583 RCV003451077
NM_000249.4(MLH1):c.1896+1G>T	SNV Germline	Chr3:37047684	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007419	rs_267607867	8 SubmittersRCV000075405 RCV000479456 RCV000684807 RCV001013523 RCV002288568
NM_000249.4(MLH1):c.1896+2T>C	SNV Germline	Chr3:37047685	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA007427	rs_267607869	4 SubmittersRCV000075407 RCV001854293 RCV002408584 RCV003235032
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)	SNV Germline	Chr3:37047683	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA007444	rs_63751632	16 SubmittersRCV000075409 RCV000498248 RCV000524256 RCV000605751 RCV001013527 RCV001193961
NM_000249.4(MLH1):c.1897-2A>G	SNV Germline	Chr3:37048515	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome not specified Familial cancer of breast Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA007469	rs_267607871	14 SubmittersRCV000075411 RCV000524638 RCV000487325 RCV000662785 RCV000570210 RCV000763104 RCV001844029 RCV005357463 RCV005638419
NM_000249.4(MLH1):c.189C>A (p.Asp63Glu)	SNV Germline	Chr3:36996691	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA007476	rs_587778955	2 SubmittersRCV000075413 RCV004943743
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)	SNV Germline/somatic	Chr3:37048538	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Carcinoma of colon Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Neoplasm	Reviewed By Expert Panel	CA007602	rs_63749792	9 SubmittersRCV000075424 RCV000569430 RCV000791363 RCV001193959 RCV001354000 RCV002223786 RCV002291271 RCV006273096
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu)	SNV Germline	Chr3:37048539	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA007611	rs_267607875	5 SubmittersRCV000075425 RCV000821758 RCV002408588 RCV003451083 RCV006273097
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)	SNV Germline	Chr3:36996693	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Lynch syndrome Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary breast ovarian cancer syndrome MLH1-related disorder Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 not specified	Criteria Provided Conflicting Classifications	CA007619	rs_63750952	19 SubmittersRCV000075426 RCV000217492 RCV000513562 RCV000490571 RCV000708912 RCV001262297 RCV002288569 RCV004760365 RCV004748556 RCV005025123 RCV005055564
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)	SNV Germline	Chr3:37048563	Likely pathogenic	Lynch syndrome 1 Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome	Reviewed By Expert Panel	CA007716	rs_63750610	8 SubmittersRCV000075433 RCV000221413 RCV000477957 RCV000812087 RCV001269952 RCV003997119
NM_000249.4(MLH1):c.194G>A (p.Gly65Asp)	SNV Germline	Chr3:36996696	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA007735	rs_63751465	3 SubmittersRCV000075435 RCV000564174 RCV001201396
NM_000249.4(MLH1):c.1958T>G (p.Leu653Arg)	SNV Germline	Chr3:37048578	Likely pathogenic	Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA007760	rs_63751202	4 SubmittersRCV000075437 RCV001203288 RCV003451086 RCV002415523
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu)	SNV Germline	Chr3:37048581	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Breast carcinoma Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 MLH1-related disorder Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA007789	rs_63750726	11 SubmittersRCV000075439 RCV000215855 RCV001201909 RCV001554328 RCV002415524 RCV002463635 RCV004724792 RCV006451918
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter)	SNV Germline	Chr3:37048595	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007865	rs_63751310	15 SubmittersRCV000075444 RCV000128869 RCV000202252 RCV000524261 RCV003226186 RCV003451087
NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln)	SNV Germline	Chr3:37048596	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA007891	rs_63749900	13 SubmittersRCV000121365 RCV000568527 RCV000656865 RCV001081501 RCV003997120 RCV005031554 RCV005600642
NM_000249.4(MLH1):c.1976G>C (p.Arg659Pro)	SNV Germline	Chr3:37048596	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA007900	rs_63749900	6 SubmittersRCV000075447 RCV001064800 RCV002415525 RCV003237435 RCV003451088 RCV005252732
NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu)	SNV Germline	Chr3:37048596	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA007908	rs_63749900	5 SubmittersRCV000075448 RCV000572238 RCV006449978 RCV005089506
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro)	SNV Germline	Chr3:37048604	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA007926	rs_587778964	6 SubmittersRCV000075450 RCV000524263 RCV001013906 RCV003451089 RCV005237503
NM_000249.4(MLH1):c.1989+1G>A	SNV Germline	Chr3:37048610	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA090784	rs_267607879	4 SubmittersRCV000075455 RCV000691557 RCV002415526
NM_000249.4(MLH1):c.1989+1G>C	SNV Germline	Chr3:37048610	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary cancer-predisposing syndrome Muir-Torré syndrome	Reviewed By Expert Panel	CA007969	rs_267607879	6 SubmittersRCV000075456 RCV001054272 RCV003451090 RCV004696684 RCV004943744 RCV005862970
NM_000249.4(MLH1):c.1989+1G>T	SNV Germline	Chr3:37048610	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA007977	rs_267607879	7 SubmittersRCV000075457 RCV000679272 RCV000794468 RCV001180388
NM_000249.4(MLH1):c.1989+5G>C	SNV Germline/somatic	Chr3:37048614	Pathogenic/Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA007990	rs_267607878	5 SubmittersRCV000075459 RCV001040247 RCV002415527 RCV003451091 RCV006259000
NM_000249.4(MLH1):c.1989G>A (p.Glu663=)	SNV Germline	Chr3:37048609	Pathogenic	Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 1 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008008	rs_63751662	5 SubmittersRCV000075461 RCV000508038 RCV000680174 RCV001525221
NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp)	SNV Germline	Chr3:37048609	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008016	rs_63751662	7 SubmittersRCV000075462 RCV000256174 RCV000524264 RCV001353681 RCV002415528
NM_000249.4(MLH1):c.1990-1G>A	SNV Germline	Chr3:37048903	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA008052	rs_267607884	5 SubmittersRCV000075467 RCV001013970 RCV000985780 RCV003593880
NM_000249.4(MLH1):c.1990-1G>T	SNV Germline/somatic	Chr3:37048903	Likely pathogenic	Lynch syndrome Lynch-like syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA008060	rs_267607884	3 SubmittersRCV000075468 RCV001250002 RCV001854294
NM_000249.4(MLH1):c.1990-2A>G	SNV Germline	Chr3:37048902	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008068	rs_267607883	5 SubmittersRCV000075469 RCV000202242 RCV000690743 RCV003466957 RCV004943745
NM_000249.4(MLH1):c.1998G>A (p.Trp666Ter)	SNV Germline	Chr3:37048912	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA008096	rs_63750639	4 SubmittersRCV000075473 RCV000627203 RCV002415529 RCV002514344
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)	SNV Germline/somatic	Chr3:36996701	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Lynch-like syndrome Lynch syndrome 1 Carcinoma of colon Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA008104	rs_63750206	25 SubmittersRCV000075474 RCV000128871 RCV000202032 RCV000524266 RCV000662719 RCV001249945 RCV001310195 RCV001353779 RCV001290649
NM_000249.4(MLH1):c.1A>G (p.Met1Val)	SNV Germline	Chr3:36993548	Pathogenic	Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome	Reviewed By Expert Panel	CA008127	rs_587778967	6 SubmittersRCV000075477 RCV000629832 RCV002415530 RCV003477467 RCV005031555
NM_000249.4(MLH1):c.2011G>T (p.Glu671Ter)	SNV Germline/somatic	Chr3:37048925	Pathogenic	Lynch syndrome Lynch-like syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA008195	rs_63750663	5 SubmittersRCV000075483 RCV001249947 RCV002415532 RCV003451094 RCV005089507
NM_000249.4(MLH1):c.2027T>C (p.Leu676Pro)	SNV Germline	Chr3:37048941	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA008222	rs_63750242	5 SubmittersRCV000075485 RCV000216198 RCV000695668 RCV000987189 RCV000985781
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)	SNV Germline	Chr3:37048949	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008258	rs_587778971	6 SubmittersRCV000075489 RCV000507295 RCV000529563 RCV001014093 RCV001353532 RCV003451095
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)	SNV Germline	Chr3:37048952	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008266	rs_63750809	8 SubmittersRCV000075490 RCV000215088 RCV000791351 RCV001353998 RCV003451096
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)	SNV Germline	Chr3:37048952	Conflicting classifications of pathogenicity	Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA008274	rs_63750809	14 SubmittersRCV000483931 RCV000411388 RCV000579550 RCV000684822 RCV002228179 RCV003997122
NM_000249.4(MLH1):c.203T>A (p.Ile68Asn)	SNV Germline	Chr3:36996705	Likely pathogenic	Lynch syndrome Condition: not provided	Reviewed By Expert Panel	CA008282	rs_63750281	2 SubmittersRCV000075492 RCV001269638
NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter)	SNV Germline	Chr3:37048954	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008289	rs_63749867	6 SubmittersRCV000075493 RCV000524268 RCV000573665 RCV003451097
NM_000249.4(MLH1):c.2040C>T (p.Cys680=)	SNV Germline/somatic	Chr3:37048954	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA008297	rs_63749867	9 SubmittersRCV000075494 RCV000541158 RCV000567661 RCV000662499 RCV001711130 RCV005357465
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)	SNV Germline	Chr3:37048962	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Carcinoma of colon Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA008321	rs_587778972	7 SubmittersRCV000075497 RCV000589365 RCV001014231 RCV001355274 RCV001209526 RCV003451098 RCV005237504
NM_000249.4(MLH1):c.2051A>G (p.Tyr684Cys)	SNV Germline	Chr3:37048965	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA008329	rs_267607886	9 SubmittersRCV000478138 RCV000524271 RCV000562804 RCV000662677 RCV003997123
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)	SNV Germline	Chr3:37048973	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Lynch syndrome 1 Carcinoma of colon MLH1-related disorder Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA008336	rs_63751275	25 SubmittersRCV000075499 RCV000215428 RCV000481137 RCV000411954 RCV000524272 RCV000763106 RCV001093679 RCV001356525 RCV003915039 RCV006449979
NM_000249.4(MLH1):c.207+1G>A	SNV Germline	Chr3:36996710	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Thyroid cancer, nonmedullary, 1	Reviewed By Expert Panel	CA008419	rs_267607718	11 SubmittersRCV000075505 RCV000128866 RCV000202020 RCV000627707 RCV003451099 RCV005890442
NM_000249.4(MLH1):c.207+1G>T	SNV Germline	Chr3:36996710	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008427	rs_267607718	4 SubmittersRCV000075506 RCV001854295 RCV002415534 RCV003455992
NM_000249.4(MLH1):c.207+2T>C	SNV Germline	Chr3:36996711	Likely pathogenic	Lynch syndrome Condition: not provided not specified Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008435	rs_267607722	6 SubmittersRCV000075508 RCV000507560 RCV001000153 RCV001210840 RCV001014311 RCV003455993
NM_000249.4(MLH1):c.208-1G>A	SNV Germline	Chr3:37000954	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Malignant tumor of urinary bladder	Reviewed By Expert Panel	CA008505	rs_267607717	5 SubmittersRCV000075514 RCV000629825 RCV002415535 RCV003451100 RCV005890443
NM_000249.4(MLH1):c.208-2A>G	SNV Germline	Chr3:37000953	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008517	rs_267607716	3 SubmittersRCV000075516 RCV003137610 RCV002415536
NM_000249.4(MLH1):c.208-3C>G	SNV Germline/somatic	Chr3:37000952	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008526	rs_267607720	8 SubmittersRCV000075517 RCV000160554 RCV000524274 RCV000562969 RCV000763098 RCV003451102
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter)	SNV Germline	Chr3:37048998	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA008537	rs_63749995	6 SubmittersRCV000075523 RCV001059462 RCV003455995 RCV002415537 RCV005055565
NM_000249.4(MLH1):c.2093C>G (p.Ser698Ter)	SNV Germline	Chr3:37049007	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008574	rs_587778975	6 SubmittersRCV000075525 RCV000706709 RCV002415539 RCV003451103
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter)	SNV Germline	Chr3:37049015	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA008607	rs_63750114	7 SubmittersRCV000075528 RCV001854297 RCV003451104 RCV002415540 RCV003480053
NM_000249.4(MLH1):c.2103+1G>A	SNV Germline	Chr3:37049018	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008626	rs_267607888	7 SubmittersRCV000075529 RCV000202158 RCV001380413 RCV002415541 RCV005600643
NM_000249.4(MLH1):c.2103+1G>C	SNV Germline	Chr3:37049018	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA008633	rs_267607888	2 SubmittersRCV000075530 RCV001380414
NM_000249.4(MLH1):c.2103+1G>T	SNV Germline	Chr3:37049018	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA008639	rs_267607888	5 SubmittersRCV000075531 RCV000446141 RCV000483619 RCV003593881
NM_000249.4(MLH1):c.2103G>C (p.Gln701His)	SNV Germline	Chr3:37049017	Pathogenic	Lynch syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Reviewed By Expert Panel	CA008661	rs_63750603	8 SubmittersRCV000075534 RCV001093697 RCV000694604 RCV001014446 RCV001549279 RCV002288570 RCV003477468
NM_000249.4(MLH1):c.2104-1G>T	SNV Germline	Chr3:37050485	Likely pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA008680	rs_587778978	1 SubmittersRCV000075537
NM_000249.4(MLH1):c.2104-2A>G	SNV Germline	Chr3:37050484	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008707	rs_267607889	3 SubmittersRCV000075539 RCV001314807 RCV003451105
NM_000249.4(MLH1):c.2104-2A>T	SNV Germline	Chr3:37050484	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008714	rs_267607889	3 SubmittersRCV000075540 RCV003451106 RCV002415543
NM_000249.4(MLH1):c.211G>T (p.Glu71Ter)	SNV Germline	Chr3:37000958	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008784	rs_63749829	2 SubmittersRCV000075548 RCV002415545
NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter)	SNV Germline	Chr3:37050517	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Reviewed By Expert Panel	CA008833	rs_63750561	12 SubmittersRCV000075550 RCV000202047 RCV000581002 RCV000686456 RCV001310200 RCV003451108 RCV005394315
NM_000249.4(MLH1):c.2136G>A (p.Trp712Ter)	SNV Germline/somatic	Chr3:37050518	Pathogenic	Lynch syndrome Lynch-like syndrome Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008842	rs_63750499	5 SubmittersRCV000075551 RCV001249996 RCV002415546 RCV004700376 RCV003451109
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)	SNV Germline	Chr3:37050523	Pathogenic	Lynch syndrome Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA008850	rs_63751022	11 SubmittersRCV000075553 RCV000144606 RCV000165669 RCV001044497 RCV002280100 RCV003451110 RCV005357468 RCV006277701
NM_000249.4(MLH1):c.2153A>C (p.His718Pro)	SNV Germline	Chr3:37050535	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008900	rs_587778983	4 SubmittersRCV000075557 RCV000694232 RCV002247469 RCV006386751
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly)	SNV Germline	Chr3:37050541	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome	Criteria Provided Conflicting Classifications	CA008948	rs_587778985	7 SubmittersRCV000162502 RCV000627729 RCV002288571 RCV003997124
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys)	SNV Germline	Chr3:37050544	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms not specified Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome MLH1-related disorder Lynch syndrome	Criteria Provided Conflicting Classifications	CA008958	rs_587778986	13 SubmittersRCV000160544 RCV000212548 RCV000409675 RCV000524278 RCV000781540 RCV002483123 RCV003390768 RCV003997125
NM_000249.4(MLH1):c.2163T>A (p.Tyr721Ter)	SNV Germline	Chr3:37050545	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA008969	rs_63750484	1 SubmittersRCV000075565
NM_000249.4(MLH1):c.2173C>T (p.Arg725Cys)	SNV Germline	Chr3:37050555	Conflicting classifications of pathogenicity	not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA009001	rs_138584384	9 SubmittersRCV000485816 RCV000627721 RCV000767193 RCV001014672 RCV003997126 RCV004566928
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)	SNV Germline	Chr3:37050556	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA009007	rs_566928243	17 SubmittersRCV000075568 RCV000115473 RCV000212549 RCV000586779 RCV000764498 RCV001079417 RCV001147135
NM_000249.4(MLH1):c.2194A>T (p.Lys732Ter)	SNV Germline	Chr3:37050576	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009077	rs_267607906	6 SubmittersRCV000075573 RCV000558933 RCV000564805 RCV001353662 RCV003451115
NM_000249.4(MLH1):c.2210A>T (p.Asp737Val)	SNV Germline	Chr3:37050592	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms MLH1-related disorder Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA009102	rs_267607885	8 SubmittersRCV000115474 RCV000563079 RCV000791373 RCV003894921 RCV003997127 RCV004566929
NM_000249.4(MLH1):c.2224C>T (p.Gln742Ter)	SNV Germline	Chr3:37050606	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009163	rs_587778992	5 SubmittersRCV000075580 RCV000574085 RCV001040530 RCV003451117
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro)	SNV Germline	Chr3:37050628	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2 MLH1-related disorder Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA009197	rs_267607894	13 SubmittersRCV000075583 RCV000216146 RCV000478074 RCV000627694 RCV001355258 RCV001823108 RCV004724793 RCV005859493
NM_000249.4(MLH1):c.229T>C (p.Cys77Arg)	SNV Germline	Chr3:37000976	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Condition: not provided Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA009324	rs_63749859	5 SubmittersRCV000075596 RCV000220766 RCV001192575 RCV001358424 RCV001854300
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)	SNV Germline	Chr3:37000977	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA009334	rs_63750437	13 SubmittersRCV000075598 RCV000562335 RCV000791362 RCV001262551 RCV003477469 RCV006263655
NM_000249.4(MLH1):c.238T>G (p.Phe80Val)	SNV Germline	Chr3:37000985	Likely pathogenic	Lynch syndrome 1 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA009371	rs_63749990	4 SubmittersRCV000075601 RCV001091798 RCV001379075 RCV004019103
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)	SNV Germline	Chr3:37000991	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 not specified Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer Condition: not provided	Reviewed By Expert Panel	CA009402	rs_587778998	16 SubmittersRCV000075602 RCV000166056 RCV000490565 RCV000506252 RCV000542720 RCV001353582 RCV002467439 RCV004782045 RCV004595910
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile)	SNV Germline	Chr3:37000992	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer Condition: not provided	Reviewed By Expert Panel	CA009423	rs_63750005	8 SubmittersRCV000075604 RCV000222555 RCV000630024 RCV000659867 RCV001778703 RCV003477470
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)	SNV Germline	Chr3:37000997	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009442	rs_63750641	8 SubmittersRCV000075606 RCV001201354 RCV001353981 RCV001269582 RCV002433575 RCV003451121
NM_000249.4(MLH1):c.256C>T (p.Gln86Ter)	SNV Germline	Chr3:37001003	Pathogenic	Lynch syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA009451	rs_63751421	7 SubmittersRCV000075607 RCV001529525 RCV003451122 RCV002453384 RCV002513802
NM_000249.4(MLH1):c.265G>T (p.Glu89Ter)	SNV Germline	Chr3:37001012	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009474	rs_11541859	2 SubmittersRCV000075610 RCV003451123
NM_000249.4(MLH1):c.283T>G (p.Ser95Ala)	SNV Germline	Chr3:37001030	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA009506	rs_63751070	11 SubmittersRCV000115478 RCV000215988 RCV000409260 RCV000555517 RCV001030562 RCV004806051
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro)	SNV Germline	Chr3:37001046	Pathogenic	Lynch syndrome 1 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA009587	rs_63750266	6 SubmittersRCV000075619 RCV001532480 RCV001854301 RCV002291272 RCV002281909
NM_000249.4(MLH1):c.2T>A (p.Met1Lys)	SNV Germline	Chr3:36993549	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA009594	rs_111052004	2 SubmittersRCV000075620 RCV003362685
NM_000249.4(MLH1):c.2T>C (p.Met1Thr)	SNV Germline	Chr3:36993549	Pathogenic	Lynch syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA009600	rs_111052004	5 SubmittersRCV000075621 RCV002288572 RCV001800370 RCV003593883 RCV002433577
NM_000249.4(MLH1):c.2T>G (p.Met1Arg)	SNV Germline	Chr3:36993549	Pathogenic	Lynch syndrome 1 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA009606	rs_111052004	2 SubmittersRCV000075622 RCV002433578
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser)	SNV Germline	Chr3:37001048	Likely pathogenic	Lynch syndrome Condition: not provided not specified Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009611	rs_267607726	6 SubmittersRCV000075623 RCV000486320 RCV000502831 RCV001211883 RCV003162483 RCV003451125
NM_000249.4(MLH1):c.302G>A (p.Gly101Asp)	SNV Germline	Chr3:37001049	Likely pathogenic	Lynch syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA009617	rs_267607727	5 SubmittersRCV000075624 RCV000481030 RCV000568721 RCV003451126 RCV006461418
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)	SNV Germline	Chr3:37001051	Likely pathogenic	Lynch syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009641	rs_63750453	11 SubmittersRCV000075627 RCV000216042 RCV000493419 RCV000501856 RCV000781538 RCV000807476 RCV001353830 RCV003451127
NM_000249.4(MLH1):c.306+1G>A	SNV Germline	Chr3:37001054	Pathogenic	Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Gastric cancer Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009647	rs_267607734	6 SubmittersRCV000075628 RCV000544543 RCV002444531 RCV003162484 RCV003237436 RCV003451128
NM_000249.4(MLH1):c.306+5G>A	SNV Germline	Chr3:37001058	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Condition: not provided Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1	Reviewed By Expert Panel	CA009684	rs_267607735	10 SubmittersRCV000022504 RCV000075634 RCV000202186 RCV000763099 RCV001018363 RCV001045822 RCV001804820
NM_000249.4(MLH1):c.306G>C (p.Glu102Asp)	SNV Germline	Chr3:37001053	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009696	rs_63751665	5 SubmittersRCV000075636 RCV001048439 RCV002444532 RCV003451130
NM_000249.4(MLH1):c.307-1G>C	SNV Germline	Chr3:37004400	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA009732	rs_267607736	5 SubmittersRCV000075641 RCV000478493 RCV002319436 RCV003451131 RCV006461419
NM_000249.4(MLH1):c.307-2A>C	SNV Germline	Chr3:37004399	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009742	rs_267607732	3 SubmittersRCV000075644 RCV002514345 RCV003451132
NM_000249.4(MLH1):c.320T>G (p.Ile107Arg)	SNV Germline	Chr3:37004414	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA009787	rs_63750507	3 SubmittersRCV000075654 RCV000160517 RCV001019260
NM_000249.4(MLH1):c.332C>T (p.Ala111Val)	SNV Germline	Chr3:37004426	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009815	rs_63750539	6 SubmittersRCV000075658 RCV000627728 RCV001353512 RCV002321564 RCV003451134
NM_000249.4(MLH1):c.347C>A (p.Thr116Lys)	SNV Germline	Chr3:37004441	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms not specified Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA009850	rs_63750465	10 SubmittersRCV000115481 RCV000235173 RCV000410226 RCV000524292 RCV000780414 RCV000764481 RCV003997128
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)	SNV Germline	Chr3:37004444	Likely pathogenic	Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 1 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA009864	rs_63750781	8 SubmittersRCV000075665 RCV000202256 RCV000622257 RCV000569088
NM_000249.4(MLH1):c.367A>T (p.Lys123Ter)	SNV Germline	Chr3:37004461	Pathogenic	Lynch syndrome Condition: not provided	Reviewed By Expert Panel	CA009925	rs_63750542	2 SubmittersRCV000075669 RCV002267837
NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn)	SNV Germline	Chr3:37004470	Conflicting classifications of pathogenicity	Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Lynch syndrome not specified	Criteria Provided Conflicting Classifications	CA009965	rs_200076893	12 SubmittersRCV000217922 RCV000410157 RCV000524295 RCV000571582 RCV003149739 RCV003997129 RCV006273502
NM_000249.4(MLH1):c.378C>G (p.Tyr126Ter)	SNV Germline	Chr3:37004472	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA009980	rs_63751606	3 SubmittersRCV000075674 RCV001230876 RCV002345379
NM_000249.4(MLH1):c.37G>T (p.Glu13Ter)	SNV Germline	Chr3:36993584	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA010022	rs_587779008	4 SubmittersRCV000075677 RCV000162469 RCV000696247 RCV003451138
NM_000249.4(MLH1):c.380+1G>A	SNV Germline/somatic	Chr3:37004475	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch-like syndrome Hereditary cancer-predisposing syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA010040	rs_267607745	8 SubmittersRCV000075679 RCV000524296 RCV000486012 RCV001249909 RCV001021188 RCV001353869 RCV003451139
NM_000249.4(MLH1):c.380+2T>A	SNV Germline	Chr3:37004476	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA010049	rs_267607742	5 SubmittersRCV000075680 RCV001215653 RCV002354258 RCV003451140
NM_000249.4(MLH1):c.380+2T>C	SNV Germline	Chr3:37004476	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA010057	rs_267607742	7 SubmittersRCV000075681 RCV001356725 RCV002354259 RCV003451141 RCV006461420
NM_000249.4(MLH1):c.380G>A (p.Arg127Lys)	SNV Germline	Chr3:37004474	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA010066	rs_63751595	5 SubmittersRCV000075682 RCV000221216 RCV000686990 RCV003451142
NM_000249.4(MLH1):c.381-2A>G	SNV Germline	Chr3:37006989	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA010087	rs_267607743	3 SubmittersRCV000075683 RCV001235385 RCV003451143
NM_000249.4(MLH1):c.382G>C (p.Ala128Pro)	SNV Germline	Chr3:37006992	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA010150	rs_63750866	2 SubmittersRCV000075687 RCV005089510
NM_000249.4(MLH1):c.392C>A (p.Ser131Ter)	SNV Germline	Chr3:37007002	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA010223	rs_63749818	3 SubmittersRCV000075696 RCV003388572
NM_000249.4(MLH1):c.397G>T (p.Gly133Ter)	SNV Germline	Chr3:37007007	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA010246	rs_63751124	3 SubmittersRCV000075698 RCV003451146 RCV003162485
NM_000249.4(MLH1):c.3G>A (p.Met1Ile)	SNV Germline	Chr3:36993550	Pathogenic	Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA010267	rs_72481822	6 SubmittersRCV000075700 RCV000215403 RCV000554881 RCV001354275 RCV001293607
NM_000249.4(MLH1):c.436C>T (p.Gln146Ter)	SNV Germline	Chr3:37007046	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA010388	rs_63749820	4 SubmittersRCV000075706 RCV000551153 RCV002326788 RCV004019104
NM_000249.4(MLH1):c.445C>T (p.Gln149Ter)	SNV Germline	Chr3:37007055	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA010427	rs_63751302	3 SubmittersRCV000075708 RCV003451148 RCV003162486
NM_000249.4(MLH1):c.453+1G>T	SNV Germline	Chr3:37007064	Likely pathogenic	Lynch syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA010483	rs_267607750	8 SubmittersRCV000075712 RCV000160522 RCV000576794 RCV000704046 RCV001022649
NM_000249.4(MLH1):c.453+2T>C	SNV Germline	Chr3:37007065	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA010498	rs_267607751	2 SubmittersRCV000075713 RCV003451149
NM_000249.4(MLH1):c.454-13A>G	SNV Germline	Chr3:37008801	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2 Inherited MMR deficiency (Lynch syndrome) Lynch syndrome 1	Reviewed By Expert Panel	CA010560	rs_267607749	14 SubmittersRCV000075719 RCV000480337 RCV000524301 RCV000565961 RCV001356457 RCV003452739 RCV005646854 RCV005861045
NM_000249.4(MLH1):c.454-1G>T	SNV Germline	Chr3:37008813	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA010579	rs_193922370	3 SubmittersRCV000075720 RCV002336223 RCV006454650
NM_000249.4(MLH1):c.454-2A>G	SNV Germline	Chr3:37008812	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA010586	rs_267607753	3 SubmittersRCV000075721 RCV000218165 RCV001854302
NM_000249.4(MLH1):c.464T>G (p.Leu155Arg)	SNV Germline	Chr3:37008824	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA010624	rs_63750891	4 SubmittersRCV000075730 RCV003452740 RCV004629149 RCV005089511
NM_000249.4(MLH1):c.479C>T (p.Ala160Val)	SNV Germline	Chr3:37008839	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms not specified Lynch syndrome MLH1-related disorder Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Criteria Provided Conflicting Classifications	CA010656	rs_63749924	11 SubmittersRCV000130760 RCV000524302 RCV000522486 RCV003997131 RCV004748558 RCV005420541 RCV005357473
NM_000249.4(MLH1):c.497T>A (p.Leu166Ter)	SNV Germline	Chr3:37008857	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA010700	rs_267607755	1 SubmittersRCV000075735
NM_000249.4(MLH1):c.506C>T (p.Pro169Leu)	SNV Germline	Chr3:37008866	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA010747	rs_63750834	6 SubmittersRCV000218502 RCV000524304 RCV003441740 RCV003997132 RCV004566930
NM_000249.4(MLH1):c.539T>G (p.Val180Gly)	SNV Germline	Chr3:37008899	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms not specified Lynch syndrome Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA010855	rs_63750102	13 SubmittersRCV000131749 RCV000212519 RCV000411648 RCV000524305 RCV003320556 RCV003997133 RCV005031556
NM_000249.4(MLH1):c.544A>G (p.Arg182Gly)	SNV Germline	Chr3:37008904	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA010872	rs_63750211	6 SubmittersRCV000075747 RCV000570187 RCV000684818 RCV001353413 RCV005646855
NM_000249.4(MLH1):c.545+1G>A	SNV Germline	Chr3:37008906	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA010895	rs_267607765	4 SubmittersRCV000075748 RCV002345381 RCV003153351 RCV003452744
NM_000249.4(MLH1):c.545+3A>G	SNV Germline/somatic	Chr3:37008908	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome Lynch syndrome 1 Hereditary nonpolyposis colon cancer Muir-Torré syndrome Lynch syndrome 1 Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA010914	rs_267607760	17 SubmittersRCV000075749 RCV000215515 RCV000564669 RCV000609647 RCV001202202 RCV001249949 RCV001804822 RCV005406805 RCV005357474 RCV005861046
NM_000249.4(MLH1):c.545G>A (p.Arg182Lys)	SNV Germline	Chr3:37008905	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA010950	rs_587779021	5 SubmittersRCV000075753 RCV003452745 RCV001854303 RCV004943748
NM_000249.4(MLH1):c.546-1G>A	SNV Germline	Chr3:37011819	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Reviewed By Expert Panel	CA010963	rs_587779022	7 SubmittersRCV000075754 RCV000482173 RCV001854304 RCV002271399 RCV003162487 RCV003452746 RCV005357475
NM_000249.4(MLH1):c.546-2A>C	SNV Germline	Chr3:37011818	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA010971	rs_267607759	2 SubmittersRCV000075755 RCV003452747
NM_000249.4(MLH1):c.546-2A>G	SNV Germline	Chr3:37011818	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA010978	rs_267607759	9 SubmittersRCV000075756 RCV000202027 RCV000629970 RCV001024144 RCV003452748
NM_000249.4(MLH1):c.554T>G (p.Val185Gly)	SNV Germline	Chr3:37011828	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA011003	rs_63750515	5 SubmittersRCV000075761 RCV000218149 RCV001385098 RCV002345382 RCV003452749
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe)	SNV Germline	Chr3:36993602	Pathogenic	Carcinoma of colon Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA011026	rs_63750648	7 SubmittersRCV000075763 RCV000162610 RCV000483320 RCV000680175 RCV000791372 RCV005417453
NM_000249.4(MLH1):c.578C>G (p.Ser193Ter)	SNV Germline	Chr3:37011852	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA011062	rs_63751480	5 SubmittersRCV000075767 RCV001854305 RCV003452750 RCV002354263 RCV003321498
NM_000249.4(MLH1):c.586A>T (p.Lys196Ter)	SNV Germline	Chr3:37011860	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA011080	rs_63750500	1 SubmittersRCV000075768
NM_000249.4(MLH1):c.588+1G>T	SNV Germline	Chr3:37011863	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA011106	rs_267607772	5 SubmittersRCV000075769 RCV001176887 RCV001854306 RCV003452751
NM_000249.4(MLH1):c.588+2T>A	SNV Germline	Chr3:37011864	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA011113	rs_587779024	5 SubmittersRCV000075771 RCV000550590 RCV001024637 RCV003452752
NM_000249.4(MLH1):c.588+5G>A	SNV Germline	Chr3:37011867	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Hereditary nonpolyposis colon cancer Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA011130	rs_267607768	10 SubmittersRCV000075774 RCV000213543 RCV000572458 RCV000627715 RCV000763100 RCV001255542 RCV003452753
NM_000249.4(MLH1):c.588+5G>C	SNV Germline	Chr3:37011867	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA011137	rs_267607768	5 SubmittersRCV000075775 RCV001045347 RCV000987153 RCV002354265
NM_000249.4(MLH1):c.589-1G>T	SNV Germline	Chr3:37012010	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA011182	rs_587779027	6 SubmittersRCV000075779 RCV001070764 RCV002258789 RCV002483124 RCV003452754
NM_000249.4(MLH1):c.589-2A>G	SNV Germline	Chr3:37012009	Pathogenic	Lynch syndrome 1 Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA011189	rs_267607767	13 SubmittersRCV001804823 RCV000075780 RCV000160526 RCV000212522 RCV000576331 RCV000524306
NM_000249.4(MLH1):c.5C>A (p.Ser2Ter)	SNV Germline	Chr3:36993552	Pathogenic	Lynch syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA011228	rs_587779029	4 SubmittersRCV000075784 RCV004998189 RCV003456001 RCV004943749
NM_000249.4(MLH1):c.62C>A (p.Ala21Glu)	SNV Germline	Chr3:36993609	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA011283	rs_63750706	2 SubmittersRCV000075786 RCV000811318
NM_000249.4(MLH1):c.62C>T (p.Ala21Val)	SNV Germline	Chr3:36993609	Pathogenic	Lynch syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome Gastric cancer Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA011295	rs_63750706	8 SubmittersRCV000075787 RCV001269890 RCV002362709 RCV003162488 RCV003452755
NM_000249.4(MLH1):c.644A>G (p.Asn215Ser)	SNV Germline	Chr3:37012066	Conflicting classifications of pathogenicity	not specified Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome Hereditary nonpolyposis colon cancer Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA011342	rs_267607775	9 SubmittersRCV000508449 RCV000627731 RCV000771523 RCV003997136 RCV003993790 RCV004566931 RCV004721260
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)	SNV Germline	Chr3:37012071	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome Lynch syndrome 1 Carcinoma of colon MLH1-related disorder Hereditary nonpolyposis colon cancer	Criteria Provided Conflicting Classifications	CA011361	rs_4986984	17 SubmittersRCV000115483 RCV000212524 RCV000590255 RCV000987154 RCV001079587 RCV001030563 RCV001093666 RCV001354844 RCV003944989 RCV006449981
NM_000249.4(MLH1):c.677+1G>A	SNV Germline	Chr3:37012100	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA011519	rs_267607778	6 SubmittersRCV000075802 RCV000533036 RCV000663323 RCV001183308
NM_000249.4(MLH1):c.677+1G>T	SNV Germline	Chr3:37012100	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA011528	rs_267607778	8 SubmittersRCV000075803 RCV000480845 RCV001034678 RCV001193208 RCV002362711 RCV003452758
NM_000249.4(MLH1):c.677+3A>G	SNV Germline	Chr3:37012102	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2 Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA011545	rs_267607780	12 SubmittersRCV000075806 RCV000201996 RCV000222833 RCV000812851 RCV001353985 RCV003466960 RCV006605217
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)	SNV Germline/somatic	Chr3:37012099	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch-like syndrome Gastric cancer Endometrial carcinoma Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA011583	rs_63751711	23 SubmittersRCV000075809 RCV000132197 RCV000202049 RCV000410542 RCV000524312 RCV001093688 RCV001250009 RCV003162489 RCV003128139 RCV005406806
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)	SNV Germline/somatic	Chr3:37012099	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Lynch-like syndrome Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA011592	rs_63751711	17 SubmittersRCV000075810 RCV000160555 RCV000524313 RCV000709741 RCV000708610 RCV001249952 RCV006276063
NM_000249.4(MLH1):c.678-1G>C	SNV Germline	Chr3:37014431	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA011606	rs_267607784	4 SubmittersRCV000075813 RCV002362712 RCV003452760 RCV003593888
NM_000249.4(MLH1):c.678-1G>T	SNV Germline	Chr3:37014431	Likely pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA011615	rs_267607784	1 SubmittersRCV000075814
NM_000249.4(MLH1):c.678-2A>G	SNV Germline	Chr3:37014430	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA011623	rs_587779035	5 SubmittersRCV000075815 RCV000569823 RCV001380125 RCV003452761
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter)	SNV Germline	Chr3:36993614	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA011669	rs_63750823	10 SubmittersRCV000075822 RCV000160551 RCV000772326 RCV000811317 RCV001290676 RCV001258081
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp)	SNV Germline	Chr3:36993616	Conflicting classifications of pathogenicity	Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome	Criteria Provided Conflicting Classifications	CA011736	rs_63750555	5 SubmittersRCV000411283 RCV001025892 RCV001236964 RCV003997137
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp)	SNV Germline	Chr3:37014485	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA011836	rs_63750303	8 SubmittersRCV000075830 RCV000573119 RCV001210008 RCV001354491 RCV001804824 RCV003466961
NM_000249.4(MLH1):c.731G>T (p.Gly244Val)	SNV Germline/somatic	Chr3:37014485	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA011845	rs_63750303	5 SubmittersRCV000075831 RCV000536939 RCV002381380 RCV003452764
NM_000249.4(MLH1):c.739T>C (p.Ser247Pro)	SNV Germline	Chr3:37014493	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA011855	rs_63750948	4 SubmittersRCV000075833 RCV000629770 RCV001183309
NM_000249.4(MLH1):c.73A>T (p.Ile25Phe)	SNV Germline	Chr3:36993620	Likely pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA011880	rs_63749838	1 SubmittersRCV000075834
NM_000249.4(MLH1):c.76C>T (p.Gln26Ter)	SNV Germline	Chr3:36993623	Pathogenic	Lynch syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA011979	rs_63749827	10 SubmittersRCV000075838 RCV000520796 RCV001258082 RCV001854309 RCV002399450
NM_000249.4(MLH1):c.778C>T (p.Leu260Phe)	SNV Germline	Chr3:37014532	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA012012	rs_63750642	9 SubmittersRCV000130511 RCV000479043 RCV000705556 RCV004806052 RCV005364964 RCV004566932 RCV004786356
NM_000249.4(MLH1):c.779T>G (p.Leu260Arg)	SNV Germline	Chr3:37014533	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA012020	rs_63751283	4 SubmittersRCV000075841 RCV001183310
NM_000249.4(MLH1):c.790+1G>A	SNV Germline/somatic	Chr3:37014545	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch-like syndrome Lynch syndrome 1 Colonic neoplasm Endometrial carcinoma Colorectal cancer, hereditary nonpolyposis, type 2 Glioma susceptibility 1	Reviewed By Expert Panel	CA012109	rs_267607789	20 SubmittersRCV000075847 RCV000214767 RCV000524316 RCV000562275 RCV001249934 RCV001310196 RCV001646997 RCV003128140 RCV003452766 RCV005890449
NM_000249.4(MLH1):c.790+1G>C	SNV Germline	Chr3:37014545	Likely pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA012117	rs_267607789	2 SubmittersRCV000075848 RCV003452767
NM_000249.4(MLH1):c.790+2T>A	SNV Germline	Chr3:37014546	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA012153	rs_267607790	5 SubmittersRCV000075850 RCV001026933 RCV001382874 RCV002291498
NM_000249.4(MLH1):c.790+2T>C	SNV Germline	Chr3:37014546	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA012162	rs_267607790	6 SubmittersRCV000075851 RCV000812444 RCV001353965 RCV002415547 RCV003452768
NM_000249.4(MLH1):c.790+3A>T	SNV Germline/somatic	Chr3:37014547	Pathogenic/Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA012172	rs_267607792	2 SubmittersRCV000075853 RCV002415548
NM_000249.4(MLH1):c.790+5G>T	SNV Germline	Chr3:37014549	Pathogenic	Lynch syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA012201	rs_267607771	2 SubmittersRCV000075855 RCV003452770
NM_000249.4(MLH1):c.790C>T (p.His264Tyr)	SNV Germline	Chr3:37014544	Conflicting classifications of pathogenicity	Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 not specified Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary breast ovarian cancer syndrome MLH1-related disorder	Criteria Provided Conflicting Classifications	CA012242	rs_63751597	11 SubmittersRCV000478542 RCV000530665 RCV000562121 RCV001093687 RCV001193965 RCV003485534 RCV003997138 RCV003483463 RCV004748559
NM_000249.4(MLH1):c.791-1G>C	SNV Germline	Chr3:37017505	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Muir-Torré syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Malignant tumor of urinary bladder	Reviewed By Expert Panel	CA012277	rs_267607795	8 SubmittersRCV000075860 RCV001388082 RCV001183311 RCV002247470 RCV001723644 RCV003452771 RCV005890450
NM_000249.4(MLH1):c.791-1G>T	SNV Germline	Chr3:37017505	Likely pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA012290	rs_267607795	2 SubmittersRCV000075861 RCV003452772
NM_000249.4(MLH1):c.791-2A>G	SNV Germline	Chr3:37017504	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA012308	rs_267607794	10 SubmittersRCV000075863 RCV000115486 RCV000212525 RCV000543128 RCV003452773
NM_000249.4(MLH1):c.791-5T>G	SNV Germline	Chr3:37017501	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Reviewed By Expert Panel	CA012320	rs_267607788	7 SubmittersRCV000075865 RCV000579445 RCV001379645 RCV001262553 RCV002512058
NM_000249.4(MLH1):c.791-7T>A	SNV Germline	Chr3:37017499	Likely pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA012354	rs_587779042	1 SubmittersRCV000075866
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)	SNV Germline/somatic	Chr3:37017508	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Lynch-like syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA012384	rs_63751194	10 SubmittersRCV000075871 RCV000202126 RCV000567864 RCV001249943 RCV001070683 RCV001353449 RCV003452775 RCV005237505
NM_000249.4(MLH1):c.83C>T (p.Pro28Leu)	SNV Germline	Chr3:36993630	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided MLH1-related disorder	Reviewed By Expert Panel	CA012549	rs_63750792	8 SubmittersRCV000075881 RCV000160552 RCV001380943 RCV001800371 RCV004748561
NM_000249.4(MLH1):c.840T>A (p.Tyr280Ter)	SNV Germline	Chr3:37017555	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA012563	rs_63750938	1 SubmittersRCV000075882
NM_000249.4(MLH1):c.842C>T (p.Ala281Val)	SNV Germline	Chr3:37017557	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA012571	rs_63749950	3 SubmittersRCV000075883 RCV001854310 RCV002444533
NM_000249.4(MLH1):c.851T>A (p.Leu284Ter)	SNV Germline	Chr3:37017566	Pathogenic	Lynch syndrome Condition: not provided	Reviewed By Expert Panel	CA012616	rs_63750889	2 SubmittersRCV000075886 RCV006255326
NM_000249.4(MLH1):c.86C>G (p.Ala29Gly)	SNV Germline	Chr3:36993633	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA012745	rs_63750216	5 SubmittersRCV000075896 RCV000218998 RCV001284650 RCV003593891 RCV003452780
NM_000249.4(MLH1):c.875T>C (p.Leu292Pro)	SNV Germline	Chr3:37017590	Pathogenic/Likely pathogenic	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA012754	rs_63750517	4 SubmittersRCV000630228 RCV002371909 RCV003235034 RCV005625266
NM_000249.4(MLH1):c.882C>G (p.Leu294=)	SNV Germline	Chr3:37017597	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome	Criteria Provided Conflicting Classifications	CA012774	rs_63751707	4 SubmittersRCV000776334 RCV001854311 RCV004806053
NM_000249.4(MLH1):c.882C>T (p.Leu294=)	SNV Germline	Chr3:37017597	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer Lung cancer	Reviewed By Expert Panel	CA012784	rs_63751707	8 SubmittersRCV000075900 RCV000574927 RCV000759814 RCV000818945 RCV003452781 RCV004562243 RCV005890452
NM_000249.4(MLH1):c.883A>C (p.Ser295Arg)	SNV Germline	Chr3:37017598	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Carcinoma of colon Hereditary cancer-predisposing syndrome Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA012793	rs_63751598	6 SubmittersRCV000075901 RCV001046252 RCV001353502 RCV002371910 RCV005055065
NM_000249.4(MLH1):c.883A>G (p.Ser295Gly)	SNV Germline	Chr3:37017598	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Carcinoma of colon Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA012803	rs_63751598	6 SubmittersRCV000075902 RCV000561374 RCV001353633 RCV003593892 RCV003452782
NM_000249.4(MLH1):c.884+2T>C	SNV Germline	Chr3:37017601	Likely pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA012829	rs_267607806	1 SubmittersRCV000075904
NM_000249.4(MLH1):c.884+4A>G	SNV Germline	Chr3:37017603	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA012852	rs_267607777	8 SubmittersRCV000075907 RCV000630077 RCV001018387 RCV001582561 RCV003452783
NM_000249.4(MLH1):c.884G>A (p.Ser295Asn)	SNV Germline	Chr3:37017599	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA012866	rs_63750144	5 SubmittersRCV000075908 RCV000215143 RCV001220885 RCV003452784
NM_000249.4(MLH1):c.885-2A>G	SNV Germline	Chr3:37020308	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Reviewed By Expert Panel	CA012922	rs_267607805	10 SubmittersRCV000075914 RCV000132040 RCV000481722 RCV000627716 RCV003452786 RCV005357478
NM_000249.4(MLH1):c.887T>G (p.Leu296Ter)	SNV Germline	Chr3:37020312	Pathogenic	Lynch syndrome Condition: not provided Colon cancer Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA012965	rs_63750547	6 SubmittersRCV000075923 RCV000484245 RCV000677881 RCV000820731 RCV003362686 RCV003452787
NM_000249.4(MLH1):c.889G>T (p.Glu297Ter)	SNV Germline	Chr3:37020314	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA012996	rs_63750736	3 SubmittersRCV000075927 RCV002371911
NM_000249.4(MLH1):c.901C>T (p.Gln301Ter)	SNV Germline/somatic	Chr3:37020326	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided See cases Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA013005	rs_63750489	8 SubmittersRCV000075928 RCV001223223 RCV001701489 RCV002287363 RCV002371912 RCV003452788
NM_000249.4(MLH1):c.911A>T (p.Asp304Val)	SNV Germline/somatic	Chr3:37020336	Likely pathogenic	Lynch syndrome Lynch-like syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA013044	rs_63750993	3 SubmittersRCV000075932 RCV001250011 RCV003452789
NM_000249.4(MLH1):c.918T>A (p.Asn306Lys)	SNV Germline	Chr3:37020343	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA013067	rs_587779054	4 SubmittersRCV000075934 RCV000529157 RCV001523813 RCV004019106
NM_000249.4(MLH1):c.925C>T (p.Pro309Ser)	SNV Germline	Chr3:37020350	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome not specified	Criteria Provided Conflicting Classifications	CA013121	rs_267607808	11 SubmittersRCV000486267 RCV000574268 RCV000684787 RCV003325180 RCV003997139 RCV004799779
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)	SNV Germline	Chr3:37020380	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 not specified Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Malignant tumor of breast Hereditary cancer MLH1-related disorder	Criteria Provided Conflicting Classifications	CA013293	rs_63750796	22 SubmittersRCV000075945 RCV000115489 RCV000144597 RCV000212528 RCV000410221 RCV000524325 RCV000764484 RCV000656859 RCV001357697 RCV003492419 RCV003915040
NM_000249.4(MLH1):c.955G>T (p.Glu319Ter)	SNV Germline	Chr3:37020380	Pathogenic	Lynch syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA013306	rs_63750796	6 SubmittersRCV000075946 RCV000578913 RCV000656559 RCV001019484 RCV001034666
NM_000249.4(MLH1):c.982C>T (p.Gln328Ter)	SNV Germline	Chr3:37020407	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA013430	rs_587779058	5 SubmittersRCV000075952 RCV000166394 RCV001383394 RCV003452792
NM_000251.3(MSH2):c.-225G>C	SNV Germline	Chr2:47402967	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Condition: not provided Familial cancer of breast MSH2-related disorder	Criteria Provided Conflicting Classifications	CA021836	rs_138068023	6 SubmittersRCV000165718 RCV000409105 RCV002055083 RCV001567568 RCV005357479 RCV004734625
NM_000251.3(MSH2):c.1000A>T (p.Lys334Ter)	SNV Germline	Chr2:47416353	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA016794	rs_587779063	3 SubmittersRCV000075993 RCV002321565 RCV005089513
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter)	SNV Germline	Chr2:47416362	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 MSH2-related disorder Lynch syndrome 1 Mismatch repair cancer syndrome 2 Muir-Torré syndrome Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA016831	rs_63750778	9 SubmittersRCV000075997 RCV000153512 RCV000215536 RCV001215910 RCV003452794 RCV004537286 RCV005357480 RCV006277702
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)	SNV Germline	Chr2:47416365	Pathogenic/Likely pathogenic	Carcinoma of colon Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Multiple Submitters No Conflicts	CA016843	rs_63751004	5 SubmittersRCV000500876 RCV003452795 RCV002345383 RCV002228181
NM_000251.3(MSH2):c.1013G>A (p.Gly338Glu)	SNV Germline/somatic	Chr2:47416366	Pathogenic	Lynch syndrome Lynch-like syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA016852	rs_587779065	3 SubmittersRCV000075999 RCV001250033 RCV002354266
NM_000251.3(MSH2):c.1022T>C (p.Leu341Pro)	SNV Germline	Chr2:47416375	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA016875	rs_63751147	2 SubmittersRCV000076002 RCV001213427
NM_000251.3(MSH2):c.1034G>A (p.Trp345Ter)	SNV Germline/somatic	Chr2:47416387	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1	Reviewed By Expert Panel	CA016934	rs_63751027	6 SubmittersRCV000076004 RCV000691659 RCV001250028 RCV002390221 RCV003452796
NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter)	SNV Germline	Chr2:47416388	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA016940	rs_63750396	9 SubmittersRCV000076005 RCV000202230 RCV000492045 RCV001258035 RCV001193248 RCV001854313
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)	SNV Germline/somatic	Chr2:47416398	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Condition: not provided Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms not specified Hereditary nonpolyposis colon cancer Hereditary breast ovarian cancer syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA016975	rs_267607939	19 SubmittersRCV000128932 RCV000148635 RCV000588936 RCV000764423 RCV000986664 RCV001085377 RCV001844030 RCV002279934 RCV004760366 RCV005357481
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg)	SNV Germline	Chr2:47416399	Pathogenic	Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Hereditary cancer-predisposing syndrome Lynch syndrome Condition: not provided	Reviewed By Expert Panel	CA016981	rs_587779067	8 SubmittersRCV000076008 RCV000490568 RCV002399451 RCV005629486 RCV004998190
NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu)	SNV Germline	Chr2:47416399	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1	Reviewed By Expert Panel	CA016990	rs_587779067	6 SubmittersRCV000076009 RCV000217955 RCV000508278 RCV000694503 RCV003452797
NM_000251.3(MSH2):c.1069G>C (p.Glu357Gln)	SNV Germline	Chr2:47416422	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA017022	rs_587779069	3 SubmittersRCV000629705 RCV002408591 RCV003460713
NM_000251.3(MSH2):c.1075A>T (p.Arg359Ter)	SNV Germline	Chr2:47416428	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA017051	rs_587779070	1 SubmittersRCV000076012
NM_000251.3(MSH2):c.1076+1G>A	SNV Germline	Chr2:47416430	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2	Reviewed By Expert Panel	CA017072	rs_267607940	11 SubmittersRCV000076014 RCV000132414 RCV000485147 RCV000541273 RCV000763489 RCV003452798 RCV005364966
NM_000251.3(MSH2):c.1076+1G>T	SNV Germline/somatic	Chr2:47416430	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1	Reviewed By Expert Panel	CA017079	rs_267607940	5 SubmittersRCV000076015 RCV000491884 RCV003593893 RCV003452799
NM_000251.3(MSH2):c.1077-1G>C	SNV Germline	Chr2:47429741	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1	Reviewed By Expert Panel	CA017136	rs_267607944	8 SubmittersRCV000076019 RCV000491682 RCV001284005 RCV003452800
NM_000251.3(MSH2):c.1077-1G>T	SNV Germline/somatic	Chr2:47429741	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1	Reviewed By Expert Panel	CA017143	rs_267607944	4 SubmittersRCV000076020 RCV001009855 RCV003452801
NM_000251.3(MSH2):c.1077-2A>C	SNV Germline	Chr2:47429740	Pathogenic	Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms not specified	Reviewed By Expert Panel	CA017167	rs_267607943	6 SubmittersRCV000076023 RCV000491115 RCV001207225 RCV001800372
NM_000251.3(MSH2):c.1077-2A>G	SNV Germline	Chr2:47429740	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 1 MSH2-related disorder	Reviewed By Expert Panel	CA017174	rs_267607943	6 SubmittersRCV000076024 RCV000491149 RCV000529751 RCV001811351 RCV003452802 RCV004724794
NM_000251.3(MSH2):c.1077-2A>T	SNV Germline	Chr2:47429740	Likely pathogenic	Lynch syndrome Lynch syndrome 1 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA017180	rs_267607943	4 SubmittersRCV000076025 RCV003452803 RCV002415552 RCV003593894
NM_000251.3(MSH2):c.1077A>T (p.Arg359Ser)	SNV Germline	Chr2:47429742	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA017208	rs_63751617	3 SubmittersRCV000076034 RCV001230748 RCV002415553
NM_000251.3(MSH2):c.1082A>G (p.Asn361Ser)	SNV Germline	Chr2:47429747	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome	Criteria Provided Conflicting Classifications	CA017221	rs_587779072	4 SubmittersRCV000629732 RCV000574719 RCV003997140
NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter)	SNV Germline	Chr2:47429785	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Condition: not provided	Reviewed By Expert Panel	CA017272	rs_63750558	8 SubmittersRCV000076043 RCV000162405 RCV001385293 RCV002272052 RCV001800373
NM_000251.3(MSH2):c.1129C>T (p.Gln377Ter)	SNV Germline	Chr2:47429794	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1	Reviewed By Expert Panel	CA017309	rs_63750267	6 SubmittersRCV000076045 RCV000583364 RCV001232220 RCV003452804
NM_000251.3(MSH2):c.1145G>A (p.Arg382His)	SNV Germline	Chr2:47429810	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer Lynch syndrome Inherited ovarian cancer (without breast cancer)	Criteria Provided Conflicting Classifications	CA017350	rs_267607947	10 SubmittersRCV000487066 RCV000568561 RCV000663061 RCV000703497 RCV003149744 RCV003997141 RCV006439626
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)	SNV Germline/somatic	Chr2:47429812	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Rhabdomyosarcoma Hereditary nonpolyposis colon cancer Lynch-like syndrome MSH2-related disorder Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA017356	rs_63749849	25 SubmittersRCV000076049 RCV000202261 RCV000221364 RCV000524330 RCV000576748 RCV000763490 RCV001257542 RCV001192613 RCV001249954 RCV004537287 RCV005237507
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu)	SNV Germline	Chr2:47403305	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA017363	rs_587779074	10 SubmittersRCV000164456 RCV000524331 RCV000662913 RCV000780454 RCV001564699

NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu)

SNV
Germline

Chr2:47475130

Pathogenic

Lynch syndrome 1
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA019478

rs_28929483

7 SubmittersRCV000001823 RCV000076307 RCV000630204 RCV000566777 RCV002460877

NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)

SNV
Germline

Chr2:47429881

Pathogenic

Lynch syndrome 1
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome 1
Gastric cancer

Reviewed By Expert Panel

CA017519

rs_63751108

27 SubmittersRCV000001825 RCV000030238 RCV000162489 RCV000202291 RCV000524334 RCV000677885 RCV000763491 RCV003162204

NM_000251.3(MSH2):c.1915C>T (p.His639Tyr)

SNV
Germline

Chr2:47475180

Pathogenic

Lynch syndrome 1
Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA019553

rs_28929484

9 SubmittersRCV000001826 RCV000030246 RCV000202104 RCV000491611 RCV001204094 RCV003987305

NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter)

SNV
Germline

Chr2:47475066

Pathogenic

Muir-Torré syndrome
Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA019344

rs_63750047

10 SubmittersRCV000001828 RCV000076290 RCV000428558 RCV000491732 RCV000809096 RCV003450612

NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)

SNV
Germline

Chr2:47466718

Likely pathogenic

Lynch syndrome 1
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA018643

rs_63751207

11 SubmittersRCV000001829 RCV000076197 RCV000165648 RCV000256140 RCV000531855 RCV001251063

NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)

SNV
Germline

Chr2:47475171

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome 1
Carcinoma of colon

Reviewed By Expert Panel

CA019533

rs_63750875

23 SubmittersRCV000030245 RCV000130428 RCV000202220 RCV000524366 RCV000376757 RCV000763493 RCV001353396

NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)

SNV
Germline

Chr7:6002590

Pathogenic

Mismatch repair cancer syndrome 4
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Lynch syndrome 1
Gastric cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Reviewed By Expert Panel

CA012083

rs_63750871

23 SubmittersRCV000009815 RCV000076872 RCV000115695 RCV000212842 RCV000524474 RCV000576870 RCV001196700 RCV001310204 RCV003162222 RCV005042023

NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)

SNV
Germline

Chr7:5977629

Pathogenic

Mismatch repair cancer syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 4
Rhabdomyosarcoma
Hereditary nonpolyposis colon cancer
PMS2-related disorder
Inherited MMR deficiency (Lynch syndrome)
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Reviewed By Expert Panel

CA011441

rs_63751466

23 SubmittersRCV000009818 RCV000129304 RCV000076858 RCV000409056 RCV000413126 RCV000524467 RCV001267876 RCV001257544 RCV002265552 RCV003415681 RCV004691719 RCV005031433

NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)

SNV
Germline

Chr7:5986883

Pathogenic

Lynch syndrome 4
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA010399

rs_63750451

20 SubmittersRCV000009823 RCV000076834 RCV000218575 RCV000220439 RCV000524451 RCV001193819

NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)

SNV
Germline

Chr7:6005918

Likely pathogenic

Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Pituitary carcinoma
Endometrial carcinoma
Mismatch repair cancer syndrome 4
Lynch syndrome 1
Breast and/or ovarian cancer
PMS2-related disorder
Lynch syndrome 4
Mismatch repair cancer syndrome 4
PMS2-related cancer disorders
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA009597

rs_121434629

51 SubmittersRCV000009826 RCV000056324 RCV000076807 RCV000115657 RCV000200994 RCV000524432 RCV000722017 RCV001353458 RCV001267878 RCV001804723 RCV001797999 RCV003390667 RCV002476951 RCV003335023 RCV004555831 RCV004691720

NM_000249.4(MLH1):c.131C>T (p.Ser44Phe)

SNV
Germline

Chr3:36996633

Pathogenic

Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA004973

rs_63751109

4 SubmittersRCV000075169 RCV001269530 RCV000018608 RCV002381257

NM_000249.4(MLH1):c.986A>C (p.His329Pro)

SNV
Germline

Chr3:37020411

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA013465

rs_63750710

5 SubmittersRCV000018614 RCV000075954 RCV000215121 RCV005089272

NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)

SNV
Germline/somatic

Chr3:37012098

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch-like syndrome
Mismatch repair cancer syndrome 1
Breast and/or ovarian cancer
Muir-Torré syndrome
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA011496

rs_63751615

25 SubmittersRCV000018616 RCV000075801 RCV000115485 RCV000202205 RCV000524311 RCV001093685 RCV001249951 RCV001267883 RCV003149572 RCV003137535 RCV006449941

NM_000249.4(MLH1):c.199G>T (p.Gly67Trp)

SNV
Germline

Chr3:36996701

Pathogenic

Lynch syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008112

rs_63750206

4 SubmittersRCV000075475 RCV001267885 RCV000018618 RCV002415421

NM_000249.4(MLH1):c.350C>T (p.Thr117Met)

SNV
Germline/somatic

Chr3:37004444

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Endometrial carcinoma
Colon cancer
Inherited MMR deficiency (Lynch syndrome)
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Mismatch repair cancer syndrome 1

Reviewed By Expert Panel

CA009872

rs_63750781

33 SubmittersRCV000018626 RCV000075666 RCV000144599 RCV000160518 RCV000524293 RCV000570680 RCV001249927 RCV001353627 RCV003229801 RCV004584176 RCV004795924

NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser)

SNV
Germline

Chr3:37048562

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA007707

rs_63750899

7 SubmittersRCV000018629 RCV000075432 RCV000162472 RCV001040524 RCV001267884 RCV001284501

NM_000249.4(MLH1):c.806C>G (p.Ser269Ter)

SNV
Germline

Chr3:37017521

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Colon cancer
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA012452

rs_63750691

7 SubmittersRCV000018631 RCV000075875 RCV000677880 RCV000704907 RCV001723579 RCV002408469

NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)

SNV
Germline

Chr3:37048955

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Hereditary nonpolyposis colon cancer
Muir-Torré syndrome
Hereditary breast ovarian cancer syndrome
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA008304

rs_63750217

27 SubmittersRCV000018632 RCV000075495 RCV000202172 RCV000213700 RCV000519240 RCV000524270 RCV000763105 RCV001328323 RCV002288511 RCV005251042 RCV005865086

NM_000249.4(MLH1):c.200G>A (p.Gly67Glu)

SNV
Germline

Chr3:36996702

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA008188

rs_63749939

9 SubmittersRCV000018641 RCV000075482 RCV000132445 RCV000216147 RCV000524267

NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)

SNV
Germline

Chr3:37017508

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA012394

rs_63751194

26 SubmittersRCV000022502 RCV000034802 RCV000075872 RCV000220712 RCV000524317 RCV000677879 RCV001093673 RCV005025076 RCV006449942

NM_000249.4(MLH1):c.1865T>A (p.Leu622His)

SNV
Germline

Chr3:37047652

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA007237

rs_63750693

8 SubmittersRCV000022505 RCV000075389 RCV001804746 RCV001851995 RCV002408475 RCV004998105

NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)

SNV
Germline/somatic

Chr3:37025979

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Lynch-like syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA005183

rs_63750540

18 SubmittersRCV000030213 RCV000132422 RCV000202201 RCV000524235 RCV000659871 RCV000763102 RCV001249929 RCV001804748

NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)

SNV
Germline

Chr3:37048557

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA007678

rs_35045067

17 SubmittersRCV000131964 RCV000524258 RCV000662690 RCV000587551 RCV001093659 RCV002267800 RCV003996129

NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)

SNV
Germline

Chr3:37050595

Conflicting classifications of pathogenicity

Lynch syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA009110

rs_148317871

14 SubmittersRCV000030221 RCV000160545 RCV000411992 RCV000524281 RCV000573289 RCV000767194 RCV005357160

NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)

SNV
Germline/somatic

Chr3:37001045

Pathogenic

Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA009575

rs_63751221

19 SubmittersRCV000030223 RCV000220956 RCV000576742 RCV000569466 RCV000524287 RCV001250008 RCV006277661

NM_000249.4(MLH1):c.454-1G>A

SNV
Germline

Chr3:37008813

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA010570

rs_193922370

8 SubmittersRCV000018611 RCV000030226 RCV001067834 RCV001725119 RCV001804749 RCV005659849

NM_000249.4(MLH1):c.94A>G (p.Ile32Val)

SNV
Germline

Chr3:36993641

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA013254

rs_2020872

9 SubmittersRCV000030233 RCV000217828 RCV000524324 RCV000568967 RCV001030560

NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter)

SNV
Germline

Chr2:47416383

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Reviewed By Expert Panel

CA016912

rs_63750245

8 SubmittersRCV000030234 RCV000759091 RCV001009753 RCV001224622 RCV003450651 RCV005394174

NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)

SNV
Germline/somatic

Chr2:47476399

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Malignant tumor of ascending colon
Lynch-like syndrome
Lynch syndrome 4

Reviewed By Expert Panel

CA019872

rs_63749932

23 SubmittersRCV000030248 RCV000115515 RCV000202174 RCV000524372 RCV000576755 RCV000677886 RCV001250040 RCV004555850

NM_000251.3(MSH2):c.421A>G (p.Met141Val)

SNV
Germline

Chr2:47410148

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA021148

rs_193922374

8 SubmittersRCV000030254 RCV000115531 RCV000212584 RCV001079015 RCV005420519 RCV005357161

NM_000251.3(MSH2):c.942+3A>T

SNV
Germline/somatic

Chr2:47414421

Pathogenic

Lynch syndrome 1
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Carcinoma of colon
Breast carcinoma
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
MSH2-related disorder
Hereditary breast ovarian cancer syndrome
Uterine corpus endometrial carcinoma
Colon adenocarcinoma

Reviewed By Expert Panel

CA022585

rs_193922376

35 SubmittersRCV000001844 RCV000030256 RCV000115549 RCV000201997 RCV000524424 RCV001249912 RCV001353565 RCV001579303 RCV001731319 RCV005025083 RCV004734535 RCV006605197 RCV005888781 RCV005888780

NM_000179.3(MSH6):c.38A>C (p.Lys13Thr)

SNV
Germline

Chr2:47783271

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA014649

rs_41294988

12 SubmittersRCV000030274 RCV000160705 RCV000569787 RCV000662751 RCV000627725 RCV001818192 RCV003466879 RCV005394175

NM_000179.3(MSH6):c.975A>G (p.Gln325=)

SNV
Germline

Chr2:47798958

Conflicting classifications of pathogenicity

Lynch syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA016697

rs_193922345

6 SubmittersRCV000030278 RCV000423476 RCV000805479 RCV002256010 RCV005420520

NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)

SNV
Germline

Chr17:43063930

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Ovarian neoplasm
Breast and/or ovarian cancer
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Gastric cancer
BRCA1-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 1
Lynch syndrome 1
BRCA1-related disorder
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA003235

rs_41293459

53 SubmittersRCV000031217 RCV000048790 RCV000131564 RCV000195350 RCV000785422 RCV000735446 RCV002250479 RCV002496477 RCV003162265 RCV004802991 RCV005861026 RCV004554634 RCV005357178

NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)

SNV
Germline

Chr2:47799850

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA009344

rs_3136334

14 SubmittersRCV000034494 RCV000121577 RCV000128867 RCV000074692 RCV000662448 RCV001082588 RCV004534719

NM_000179.3(MSH6):c.2667G>T (p.Gln889His)

SNV
Germline

Chr2:47800650

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA010704

rs_149945495

16 SubmittersRCV000034496 RCV000115393 RCV000235185 RCV000410628 RCV001080247 RCV003492327 RCV004739319

NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)

SNV
Germline

Chr3:37048584

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, non-polyposis
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Hereditary nonpolyposis colorectal neoplasms
MLH1-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA007813

rs_63751225

18 SubmittersRCV000034544 RCV000128924 RCV000148623 RCV000662533 RCV000781539 RCV001085205 RCV003944879 RCV004806018

NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)

SNV
Germline

Chr2:47471051

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, non-polyposis
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
not specified
Breast and/or ovarian cancer
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019161

rs_201118107

18 SubmittersRCV000034553 RCV000076263 RCV000115510 RCV000148636 RCV000765667 RCV001079601 RCV001354468 RCV002265576 RCV003492329 RCV005246597

NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)

SNV
Germline

Chr2:47475052

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, non-polyposis
not specified
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA019304

rs_41295288

25 SubmittersRCV000034554 RCV000076286 RCV000115511 RCV000148641 RCV000200985 RCV000659882 RCV000765668 RCV001081309 RCV003149607

NM_000251.3(MSH2):c.1837A>C (p.Asn613His)

SNV
Germline

Chr2:47475102

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA019422

rs_200147804

7 SubmittersRCV000034555 RCV000705544 RCV000771463 RCV004806020 RCV005394197

NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)

SNV
Germline

Chr2:47478486

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Malignant tumor of breast
Hereditary nonpolyposis colon cancer
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020577

rs_202145681

15 SubmittersRCV000034556 RCV000121564 RCV000129519 RCV001030484 RCV001080801 RCV001093691 RCV001356651 RCV001787035 RCV004534720

NM_000535.7(PMS2):c.1437C>G (p.His479Gln)

SNV
Germline

Chr7:5987328

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Breast and/or ovarian cancer
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA009671

rs_63750685

28 SubmittersRCV000034615 RCV000076809 RCV000121844 RCV000162366 RCV000625386 RCV001081746 RCV001356193 RCV003149610 RCV003153324

NM_000535.7(PMS2):c.2149G>A (p.Val717Met)

SNV
Germline

Chr7:5982849

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4
not specified
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA010907

rs_201671325

28 SubmittersRCV000034624 RCV000115676 RCV000199450 RCV000411225 RCV000417397 RCV000515268 RCV001081398 RCV001798066 RCV003492332

NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)

SNV
Germline

Chr7:6006002

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Breast and/or ovarian cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA012293

rs_201343342

19 SubmittersRCV000034630 RCV000123089 RCV000115698 RCV000212836 RCV000515284 RCV001083711 RCV001159382 RCV003149612 RCV003944883

NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)

SNV
Germline

Chr7:5999241

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012331

rs_375289386

16 SubmittersRCV000034631 RCV000132453 RCV000221255 RCV000662753 RCV001080249 RCV001798067 RCV003996173

NM_000535.7(PMS2):c.708G>T (p.Leu236Phe)

SNV
Germline

Chr7:5997421

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
not specified
Clear cell carcinoma of kidney
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012634

rs_201395630

12 SubmittersRCV000034634 RCV000165656 RCV000231924 RCV000412437 RCV001290448 RCV005888936 RCV005042107

NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)

SNV
Germline

Chr7:6005969

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
PMS2-related disorder
Cervical cancer

Criteria Provided
Conflicting Classifications

CA013092

rs_146176004

23 SubmittersRCV000034637 RCV000115707 RCV000121855 RCV000123093 RCV000786854 RCV001082141 RCV003492334 RCV003891470 RCV005888937

NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)

SNV
Germline

Chr7:5992008

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA013361

rs_139438201

19 SubmittersRCV000034638 RCV000115712 RCV000212860 RCV000987839 RCV001083014 RCV001354089 RCV003952396

NM_000251.3(MSH2):c.2276G>A (p.Gly759Glu)

SNV
Germline

Chr2:47478337

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020397

rs_386833406

3 SubmittersRCV000034800 RCV000986685 RCV002444462

NM_000179.3(MSH6):c.3173-1G>C

SNV
Germline

Chr2:47803419

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA011783

rs_397515875

10 SubmittersRCV000035322 RCV000115404 RCV000201971 RCV000697257 RCV003450661 RCV003323369

NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)

SNV
Germline

Chr2:47806641

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Breast and/or ovarian cancer
MSH6-related disorder
Endometrial carcinoma

Reviewed By Expert Panel

CA015060

rs_267608094

26 SubmittersRCV000035325 RCV000131743 RCV000202305 RCV000410467 RCV000524203 RCV001824584 RCV002490471 RCV003492340 RCV004528168 RCV003460548

NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys)

SNV
Germline

Chr19:38580090

Pathogenic/Likely pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA024150

rs_118192180

6 SubmittersRCV000056232 RCV000119518 RCV001854163 RCV003996488 RCV004555852

NM_000179.3(MSH6):c.-8C>T

SNV
Germline

Chr2:47783226

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA016627

rs_565211544

17 SubmittersRCV000131026 RCV000212613 RCV000412463 RCV000587581 RCV001354724 RCV003997060 RCV004537271

NM_000179.3(MSH6):c.1082G>A (p.Arg361His)

SNV
Germline/somatic

Chr2:47799065

Conflicting classifications of pathogenicity

Lynch syndrome
Lynch syndrome 5
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA007978

rs_63750440

11 SubmittersRCV000074629 RCV000409637 RCV000487116 RCV000567227 RCV000701439 RCV003466931 RCV004739330

NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)

SNV
Germline

Chr2:47799092

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary nonpolyposis colon cancer
Gastric cancer
Lynch syndrome 5
MSH6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA008059

rs_587779204

15 SubmittersRCV000074633 RCV000162441 RCV000524101 RCV000518839 RCV001201190 RCV003162468 RCV003450922 RCV004739331

NM_000179.3(MSH6):c.1133G>A (p.Arg378Lys)

SNV
Germline

Chr2:47799116

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Carcinoma of colon
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA008097

rs_587779205

8 SubmittersRCV000479933 RCV000569385 RCV000629837 RCV001290538 RCV001358106 RCV003997062 RCV004566915

NM_000179.3(MSH6):c.1144C>T (p.His382Tyr)

SNV
Germline

Chr2:47799127

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008133

rs_587779207

11 SubmittersRCV000162700 RCV000213163 RCV000411429 RCV000627690 RCV001255541 RCV003460658 RCV003997063

NM_000179.3(MSH6):c.1193T>A (p.Val398Glu)

SNV
Germline

Chr2:47799176

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA008305

rs_587779208

1 SubmittersRCV000074641

NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)

SNV
Germline

Chr2:47783357

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Condition: not provided
Breast and/or ovarian cancer
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA008371

rs_34014629

14 SubmittersRCV000131942 RCV000422207 RCV000410444 RCV000524105 RCV001354476 RCV001719808 RCV003149716 RCV004542739

NM_000179.3(MSH6):c.1273A>G (p.Ile425Val)

SNV
Germline

Chr2:47799256

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA008413

rs_63749971

8 SubmittersRCV000570856 RCV001063935 RCV003466932 RCV004724790 RCV003997064 RCV005620899

NM_000179.3(MSH6):c.1299T>A (p.Tyr433Ter)

SNV
Germline

Chr2:47799282

Pathogenic

Lynch syndrome
Condition: not provided
Lynch syndrome 5

Reviewed By Expert Panel

CA008461

rs_267608055

3 SubmittersRCV000074647 RCV003321496 RCV003450924

NM_000179.3(MSH6):c.1304T>C (p.Leu435Pro)

SNV
Germline

Chr2:47799287

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA008468

rs_63751405

6 SubmittersRCV000128873 RCV000214282 RCV000791437 RCV002288560 RCV003460660

NM_000179.3(MSH6):c.1325T>C (p.Ile442Thr)

SNV
Germline

Chr2:47799308

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008493

rs_587779210

6 SubmittersRCV000213558 RCV000568557 RCV000627712 RCV003997065

NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)

SNV
Germline

Chr2:47799329

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Endometrial carcinoma
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA008516

rs_63750741

13 SubmittersRCV000074651 RCV000491070 RCV000576688 RCV000627730 RCV001804803 RCV003137604 RCV003466933 RCV005252731

NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)

SNV
Germline/somatic

Chr2:47799385

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Lynch syndrome 5
Endometrial carcinoma
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA008576

rs_369456858

15 SubmittersRCV000074653 RCV000166488 RCV000222213 RCV000524109 RCV000587141 RCV001535649 RCV003450925 RCV004566916 RCV004528269

NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)

SNV
Germline

Chr2:47799427

Pathogenic

Lynch syndrome
Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Endometrial carcinoma
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA008614

rs_63750909

21 SubmittersRCV000074656 RCV000215386 RCV000410127 RCV000491001 RCV000524108 RCV001355905 RCV003128135 RCV004794357

NM_000179.3(MSH6):c.1474A>G (p.Met492Val)

SNV
Germline

Chr2:47799457

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Carcinoma of colon
Lynch syndrome
Lynch syndrome 5
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA008673

rs_61754783

14 SubmittersRCV000115374 RCV000212649 RCV000524111 RCV000587662 RCV001353728 RCV003997066 RCV005420526 RCV006451836

NM_000179.3(MSH6):c.1477G>T (p.Glu493Ter)

SNV
Germline

Chr2:47799460

Pathogenic

Lynch syndrome
Thyroid cancer, nonmedullary, 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008679

rs_267608046

3 SubmittersRCV000074658 RCV005890428 RCV005251057

NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)

SNV
Germline/somatic

Chr2:47799466

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch-like syndrome
Lynch syndrome 5
Endometrial carcinoma
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA008701

rs_587779212

26 SubmittersRCV000074659 RCV000131420 RCV000202276 RCV000524112 RCV001353858 RCV001249984 RCV003334381 RCV003460662 RCV004700371

NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)

SNV
Germline

Chr2:47799548

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Endometrial carcinoma
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA008795

rs_63751009

11 SubmittersRCV000214996 RCV000219119 RCV000556355 RCV000662803 RCV001194395 RCV003460663 RCV004786355

NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter)

SNV
Germline

Chr2:47799555

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary nonpolyposis colon cancer
Lynch syndrome 5

Reviewed By Expert Panel

CA008805

rs_587779215

9 SubmittersRCV000074665 RCV000491949 RCV000798747 RCV002266921 RCV002469003 RCV003450926

NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)

SNV
Germline

Chr2:47799679

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
not specified
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA009071

rs_63749973

12 SubmittersRCV000131251 RCV000212651 RCV000411714 RCV001080487 RCV001328467 RCV004542740

NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)

SNV
Germline

Chr2:47799712

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Hereditary nonpolyposis colon cancer
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009088

rs_542838372

18 SubmittersRCV000115381 RCV000409690 RCV000491847 RCV000524118 RCV003235029 RCV003997068 RCV003993789 RCV003466935

NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)

SNV
Germline

Chr2:47799722

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009108

rs_41295270

13 SubmittersRCV000131189 RCV000524119 RCV000485534 RCV001818236 RCV002498356 RCV003466936 RCV004019093 RCV005357440

NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)

SNV
Germline/somatic

Chr2:47799737

Pathogenic/Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Endometrial carcinoma
Lynch syndrome 5
MSH6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA009121

rs_587779220

12 SubmittersRCV000074683 RCV000219463 RCV000491054 RCV000791380 RCV001290557 RCV003128136 RCV003450930 RCV004537273

NM_000179.3(MSH6):c.1835C>A (p.Ser612Ter)

SNV
Germline

Chr2:47799818

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided

Reviewed By Expert Panel

CA009299

rs_63750564

5 SubmittersRCV000074690 RCV002408572 RCV003593866 RCV003450933 RCV004696678

NM_000179.3(MSH6):c.1857A>C (p.Glu619Asp)

SNV
Germline

Chr2:47799840

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA009330

rs_63751121

10 SubmittersRCV000132230 RCV000221704 RCV000524122 RCV003460665 RCV003997069 RCV005420529 RCV005357442

NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)

SNV
Germline

Chr2:47799915

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Condition: not provided
MSH6-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA009475

rs_34938432

14 SubmittersRCV000074697 RCV000166227 RCV000219792 RCV000409155 RCV000524127 RCV001355116 RCV001703971 RCV004537274 RCV005234963

NM_000179.3(MSH6):c.2006T>C (p.Ile669Thr)

SNV
Germline

Chr2:47799989

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009545

rs_555209664

13 SubmittersRCV000130794 RCV000507463 RCV000679222 RCV001083193 RCV003460666 RCV003997070 RCV005394300 RCV005420531

NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)

SNV
Germline

Chr2:47800040

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Endometrial carcinoma
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA009620

rs_587779227

17 SubmittersRCV000074709 RCV000128865 RCV000212657 RCV000524130 RCV000576301 RCV000583928 RCV001353773 RCV001526863

NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter)

SNV
Germline

Chr2:47800044

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Hereditary nonpolyposis colon cancer
Lynch syndrome 5
MSH6-related disorder
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA009627

rs_267608068

12 SubmittersRCV000074710 RCV000162397 RCV000201965 RCV000530716 RCV001353419 RCV002222379 RCV003450938 RCV004724791 RCV006555028

NM_000179.3(MSH6):c.2080T>C (p.Cys694Arg)

SNV
Germline

Chr2:47800063

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA009656

rs_587779228

3 SubmittersRCV000822642 RCV001186406 RCV003450940

NM_000179.3(MSH6):c.2092C>G (p.Gln698Glu)

SNV
Germline

Chr2:47800075

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009674

rs_63750832

14 SubmittersRCV000130187 RCV000480300 RCV000524131 RCV000662368 RCV003320553 RCV003466939

NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter)

SNV
Germline

Chr2:47800088

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Reviewed By Expert Panel

CA009686

rs_63751419

5 SubmittersRCV000074717 RCV000629877 RCV001014449 RCV002490669 RCV003450941

NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser)

SNV
Germline

Chr2:47800100

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009702

rs_587779231

8 SubmittersRCV000074718 RCV001530136 RCV001854277 RCV003137606 RCV003584540

NM_000179.3(MSH6):c.2127T>A (p.Tyr709Ter)

SNV
Germline

Chr2:47800110

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma

Reviewed By Expert Panel

CA009710

rs_587779232

6 SubmittersRCV000074719 RCV000130308 RCV000690199 RCV003148645 RCV003450942 RCV003460669

NM_000179.3(MSH6):c.2177T>A (p.Phe726Tyr)

SNV
Germline

Chr2:47800160

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA009822

rs_574358605

13 SubmittersRCV000568729 RCV000524133 RCV000662512 RCV001582560 RCV003466941 RCV003997072 RCV006268106

NM_000179.3(MSH6):c.2183A>C (p.Lys728Thr)

SNV
Germline

Chr2:47800166

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009828

rs_35552856

6 SubmittersRCV000221222 RCV000563245 RCV000657127 RCV000688768 RCV003997073

NM_000179.3(MSH6):c.2191C>T (p.Gln731Ter)

SNV
Germline

Chr2:47800174

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Reviewed By Expert Panel

CA009848

rs_63751442

4 SubmittersRCV000074725 RCV000490877 RCV001206112 RCV003450943

NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)

SNV
Germline

Chr2:47800177

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 5
Endometrial carcinoma
MSH6-related disorder

Reviewed By Expert Panel

CA009856

rs_63751127

17 SubmittersRCV000074726 RCV000132226 RCV000212661 RCV000524134 RCV002281906 RCV003450944 RCV003466942 RCV004739332

NM_000179.3(MSH6):c.2282G>A (p.Arg761Lys)

SNV
Germline

Chr2:47800265

Conflicting classifications of pathogenicity

Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA009957

rs_587779233

7 SubmittersRCV000410000 RCV001284513 RCV001045519 RCV002267827 RCV002444527

NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)

SNV
Germline

Chr2:47800297

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch syndrome 5
Endometrial carcinoma

Reviewed By Expert Panel

CA010016

rs_63750138

16 SubmittersRCV000074732 RCV000162422 RCV000218399 RCV000524139 RCV001353694 RCV002467437 RCV003466943

NM_000179.3(MSH6):c.2330G>A (p.Trp777Ter)

SNV
Germline

Chr2:47800313

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA010055

rs_587779234

2 SubmittersRCV000074736 RCV005672317

NM_000179.3(MSH6):c.2392C>G (p.Leu798Val)

SNV
Germline

Chr2:47800375

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Inherited polyposis and early onset colorectal cancer - germline testing

Criteria Provided
Conflicting Classifications

CA010176

rs_587779238

5 SubmittersRCV000572114 RCV000629860 RCV003997075 RCV005430482

NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)

SNV
Germline

Chr2:47800391

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer
not specified
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Endometrial carcinoma
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA010206

rs_63751450

19 SubmittersRCV000130124 RCV000148651 RCV000212666 RCV000410826 RCV000524143 RCV000586083 RCV001356592 RCV003466944 RCV003997077 RCV005025118

NM_000179.3(MSH6):c.2503C>T (p.Gln835Ter)

SNV
Germline

Chr2:47800486

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 5

Reviewed By Expert Panel

CA010314

rs_63751321

6 SubmittersRCV000074750 RCV000218020 RCV000520652 RCV001223542 RCV001731360 RCV003450946

NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)

SNV
Germline

Chr2:47800544

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Colorectal cancer
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Breast and/or ovarian cancer
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA010423

rs_34374438

20 SubmittersRCV000121574 RCV000129191 RCV000148652 RCV000585210 RCV000764424 RCV000986723 RCV001093694 RCV001083699 RCV001353909 RCV003149719 RCV004528270

NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr)

SNV
Germline

Chr2:47800580

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA010469

rs_190075874

13 SubmittersRCV000222631 RCV000524146 RCV000479488 RCV000662498 RCV000759136 RCV003137607 RCV003997079 RCV004542741

NM_000179.3(MSH6):c.2633T>G (p.Val878Gly)

SNV
Germline

Chr2:47800616

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010648

rs_2020912

6 SubmittersRCV000584072 RCV000630141 RCV000587077 RCV001778700 RCV003997080

NM_000179.3(MSH6):c.2702G>A (p.Arg901His)

SNV
Germline

Chr2:47800685

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010764

rs_63749889

8 SubmittersRCV000570122 RCV000559913 RCV001561918 RCV003460671 RCV003997081

NM_000179.3(MSH6):c.2714T>A (p.Leu905Ter)

SNV
Germline

Chr2:47800697

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA010781

rs_587779245

1 SubmittersRCV000074775

NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)

SNV
Germline

Chr2:47800714

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Breast carcinoma
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Hereditary nonpolyposis colon cancer
Gastric cancer
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA010815

rs_63751017

32 SubmittersRCV000074777 RCV000129807 RCV000148645 RCV000202017 RCV000411710 RCV000524149 RCV001353531 RCV001554337 RCV002477210 RCV002271398 RCV003162471 RCV006555029

NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)

SNV
Germline

Chr2:47800747

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch syndrome 5
Hereditary nonpolyposis colon cancer
Condition: not provided
Gastric cancer
Endometrial carcinoma

Reviewed By Expert Panel

CA010831

rs_587779246

15 SubmittersRCV000074779 RCV000491845 RCV001056241 RCV001357595 RCV001262897 RCV002281907 RCV002267828 RCV003162472 RCV003460672

NM_000179.3(MSH6):c.2815C>T (p.Gln939Ter)

SNV
Germline

Chr2:47800798

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA010943

rs_63750140

4 SubmittersRCV000074783 RCV000491935 RCV003450950 RCV005089501

NM_000179.3(MSH6):c.2906A>C (p.Tyr969Ser)

SNV
Germline

Chr2:47800889

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome 5
Condition: not provided
MSH6-related disorder
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA011072

rs_63749919

6 SubmittersRCV000552775 RCV002433573 RCV003398659 RCV003477462 RCV004528271 RCV005394301

NM_000179.3(MSH6):c.2927G>A (p.Arg976His)

SNV
Germline

Chr2:47800910

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA011105

rs_63751113

10 SubmittersRCV000218618 RCV000455514 RCV000629775 RCV002273954 RCV003460673 RCV004700372 RCV005600635

NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter)

SNV
Germline

Chr2:47800914

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome 5
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA011115

rs_63750111

10 SubmittersRCV000074788 RCV000491868 RCV001008655 RCV001804805 RCV003450952 RCV004566920 RCV002514330

NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)

SNV
Germline

Chr2:47800966

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Reviewed By Expert Panel

CA011274

rs_63750258

9 SubmittersRCV000074793 RCV000491673 RCV001062414 RCV001269505 RCV001804806 RCV003450954 RCV005364959

NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)

SNV
Germline

Chr2:47800996

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Endometrial carcinoma
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA011340

rs_63750563

23 SubmittersRCV000074795 RCV000202164 RCV000491215 RCV000624966 RCV000808924 RCV001263506 RCV003460674 RCV005861041

NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter)

SNV
Germline

Chr2:47801003

Pathogenic

Mismatch repair cancer syndrome 3
Lynch syndrome
Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA011367

rs_587779252

4 SubmittersRCV000009493 RCV000074796 RCV004696679 RCV000202503 RCV002433574

NM_000179.3(MSH6):c.3067G>T (p.Glu1023Ter)

SNV
Germline

Chr2:47801050

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided

Reviewed By Expert Panel

CA011483

rs_267608059

8 SubmittersRCV000074801 RCV000491450 RCV000687014 RCV003450956 RCV004595907

NM_000179.3(MSH6):c.3076G>T (p.Asp1026Tyr)

SNV
Germline

Chr2:47801059

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA011499

rs_267608054

5 SubmittersRCV000160687 RCV001237308 RCV004943738 RCV006633892

NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)

SNV
Germline

Chr2:47801086

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Hereditary nonpolyposis colon cancer
Gastric cancer
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Glioma susceptibility 1

Reviewed By Expert Panel

CA011558

rs_63749999

28 SubmittersRCV000074803 RCV000223452 RCV000484829 RCV000524153 RCV001355855 RCV001194362 RCV003162473 RCV002477211 RCV003450957 RCV005890429

NM_000179.3(MSH6):c.3163G>A (p.Ala1055Thr)

SNV
Germline

Chr2:47801146

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
not specified
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA011694

rs_587779254

11 SubmittersRCV000218375 RCV000409200 RCV000565213 RCV000627700 RCV000764427 RCV003493433 RCV003460677

NM_000179.3(MSH6):c.3172+1G>T

SNV
Germline

Chr2:47801156

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma

Reviewed By Expert Panel

CA011722

rs_587779255

9 SubmittersRCV000074809 RCV000565688 RCV000627710 RCV001194394 RCV003114239 RCV003450959 RCV003460678

NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)

SNV
Germline/somatic

Chr2:47803449

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Mismatch repair cancer syndrome 1
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma
Carcinoma of colon
Lynch-like syndrome
Gastric cancer
Hereditary nonpolyposis colon cancer
MSH6-related disorder

Reviewed By Expert Panel

CA011916

rs_63749843

34 SubmittersRCV000074817 RCV000160692 RCV000172816 RCV000201960 RCV000524156 RCV000607176 RCV000763497 RCV001253564 RCV001353539 RCV001249973 RCV003162474 RCV003389678 RCV005229880

NM_000179.3(MSH6):c.3218C>G (p.Pro1073Arg)

SNV
Germline

Chr2:47803465

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA012014

rs_587779257

6 SubmittersRCV000484501 RCV001181943 RCV001209408 RCV003997085 RCV005420536

NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)

SNV
Germline

Chr2:47803473

Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary nonpolyposis colon cancer
Malignant tumor of breast
Breast carcinoma
Endometrial carcinoma
Breast and/or ovarian cancer
Gastric cancer
Lynch syndrome
Inherited prostate cancer
Inherited MMR deficiency (Lynch syndrome)
MSH6-related disorder
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA012063

rs_63750617

37 SubmittersRCV000074823 RCV000162445 RCV000254700 RCV000524159 RCV000709742 RCV000780464 RCV001356266 RCV001564011 RCV003466947 RCV003492400 RCV003162475 RCV003997086 RCV004584185 RCV004808573 RCV004739334 RCV006451837

NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)

SNV
Germline

Chr2:47803492

Conflicting classifications of pathogenicity

Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Carcinoma of colon
Lynch syndrome 5
MSH6-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA012135

rs_191109849

19 SubmittersRCV000074824 RCV000121583 RCV000115409 RCV000656898 RCV001085899 RCV001093655 RCV001358430 RCV002288561 RCV004528272 RCV005234964

NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr)

SNV
Germline

Chr2:47803506

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Ovarian cancer
MSH6-related disorder
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA012215

rs_63750998

11 SubmittersRCV000131160 RCV000212679 RCV001083021 RCV001137558 RCV003153343 RCV004537277 RCV005357445

NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)

SNV
Germline

Chr2:47803506

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian cancer
not specified
Condition: not provided
Mismatch repair cancer syndrome 1
Endometrial carcinoma
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Breast carcinoma
Lynch syndrome 5
MSH6-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012243

rs_63750998

21 SubmittersRCV000131245 RCV000148653 RCV000212678 RCV000514075 RCV000764429 RCV001079820 RCV001262368 RCV003325179 RCV004537278 RCV005364960

NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg)

SNV
Germline

Chr2:47803507

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 1
Breast and/or ovarian cancer
Lynch syndrome 5
not specified

Criteria Provided
Conflicting Classifications

CA012273

rs_63750753

15 SubmittersRCV000074829 RCV000160725 RCV000524164 RCV000586012 RCV000764430 RCV003149721 RCV004589547 RCV004799777

NM_000179.3(MSH6):c.3284G>A (p.Arg1095His)

SNV
Germline

Chr2:47803531

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012443

rs_63750253

13 SubmittersRCV000164048 RCV000412287 RCV000433110 RCV000524168 RCV000985842 RCV003997087

NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)

SNV
Germline

Chr2:47803546

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Malignant tumor of breast
Endometrial carcinoma
Lynch syndrome 5
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA012473

rs_63750442

18 SubmittersRCV000074836 RCV000218926 RCV000223174 RCV000524169 RCV000587747 RCV000764431 RCV001358521 RCV003460680 RCV004019095 RCV004542742

NM_000179.3(MSH6):c.3355G>T (p.Glu1119Ter)

SNV
Germline

Chr2:47803602

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA012669

rs_267608084

1 SubmittersRCV000074842

NM_000179.3(MSH6):c.3367G>T (p.Glu1123Ter)

SNV
Germline

Chr2:47803614

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Reviewed By Expert Panel

CA012699

rs_267608086

3 SubmittersRCV000074843 RCV001854282 RCV003450964

NM_000179.3(MSH6):c.3383A>G (p.Tyr1128Cys)

SNV
Germline

Chr2:47803630

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA012724

rs_587779261

7 SubmittersRCV000573399 RCV000524174 RCV001800369 RCV003460682 RCV003997088 RCV005031553

NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser)

SNV
Germline

Chr2:47803662

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Conflicting Classifications

CA012775

rs_63751063

4 SubmittersRCV002452190 RCV003454113 RCV005096266 RCV005227588

NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met)

SNV
Germline

Chr2:47803672

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012799

rs_267608089

16 SubmittersRCV000115415 RCV000212683 RCV000524175 RCV000656899 RCV001357449 RCV002288562 RCV003460683 RCV003997089

NM_000179.3(MSH6):c.3436C>T (p.Gln1146Ter)

SNV
Germline

Chr2:47803683

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Reviewed By Expert Panel

CA012815

rs_63750356

5 SubmittersRCV000074849 RCV000561009 RCV000629768 RCV000657654 RCV003450966

NM_000179.3(MSH6):c.3438+1G>A

SNV
Germline

Chr2:47803686

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA012865

rs_267608096

5 SubmittersRCV000074854 RCV002453381 RCV003450967 RCV006258998 RCV006461414

NM_000179.3(MSH6):c.3439-1G>T

SNV
Germline

Chr2:47804909

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma
Endometrial carcinoma
Hereditary nonpolyposis colon cancer
Lynch syndrome 5
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA012908

rs_587779263

17 SubmittersRCV000074858 RCV000215652 RCV000491481 RCV000629776 RCV002272051 RCV002483121 RCV003460684 RCV003483460 RCV003450968 RCV004808574

NM_000179.3(MSH6):c.3439-2A>G

SNV
Germline

Chr2:47804908

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Carcinoma of colon
Hereditary nonpolyposis colon cancer
Breast and/or ovarian cancer
MSH6-related disorder

Reviewed By Expert Panel

CA012917

rs_267608098

19 SubmittersRCV000074859 RCV000130487 RCV000202159 RCV000524176 RCV000576575 RCV001292865 RCV001353640 RCV001526853 RCV001798254 RCV004739335

NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser)

SNV
Germline

Chr2:47804940

Likely pathogenic

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome 4
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Multiple Submitters
No Conflicts

CA012971

rs_587779264

7 SubmittersRCV000131534 RCV000202300 RCV002510780 RCV002513797 RCV003450969 RCV004555853 RCV004584187

NM_000179.3(MSH6):c.3487G>T (p.Glu1163Ter)

SNV
Germline

Chr2:47804958

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA013109

rs_587779267

11 SubmittersRCV000074867 RCV000115417 RCV000491292 RCV000791426 RCV003450970 RCV003466948 RCV005406804

NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)

SNV
Germline

Chr2:47804984

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH6-related disorder
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA013188

rs_63749834

14 SubmittersRCV000163879 RCV000433073 RCV000524179 RCV000662442 RCV001081095 RCV003997091 RCV004542743 RCV005394304

NM_000179.3(MSH6):c.3543C>G (p.Asp1181Glu)

SNV
Germline

Chr2:47805014

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Lynch syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA013331

rs_267608100

10 SubmittersRCV000486053 RCV000565574 RCV000556518 RCV000662821 RCV002267830 RCV003997092 RCV005394305

NM_000179.3(MSH6):c.3563G>A (p.Ser1188Asn)

SNV
Germline

Chr2:47805624

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA013469

rs_587779272

11 SubmittersRCV000478227 RCV000582224 RCV000685790 RCV003450973 RCV004566921 RCV004804043 RCV005638417

NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)

SNV
Germline

Chr2:47805638

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA013478

rs_63751328

9 SubmittersRCV000166108 RCV000679239 RCV001302789 RCV003230394 RCV003450974 RCV003997093 RCV003460687

NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val)

SNV
Germline

Chr2:47805662

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA013502

rs_182024561

8 SubmittersRCV000220560 RCV000483164 RCV000684810 RCV000767044 RCV003466949 RCV005862968

NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr)

SNV
Germline

Chr2:47805666

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Mismatch repair cancer syndrome 1
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA013519

rs_587779273

11 SubmittersRCV000129370 RCV000212685 RCV000524181 RCV000662842 RCV000764434 RCV003997094 RCV003987347

NM_000179.3(MSH6):c.3647-1G>A

SNV
Germline

Chr2:47806203

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Reviewed By Expert Panel

CA013645

rs_587779279

12 SubmittersRCV000074902 RCV000491917 RCV000791366 RCV001781398 RCV002467438

NM_000179.3(MSH6):c.3647-2A>C

SNV
Germline

Chr2:47806202

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Reviewed By Expert Panel

CA013656

rs_267608111

7 SubmittersRCV000074903 RCV001531316 RCV001854283 RCV002345375 RCV003335091

NM_000179.3(MSH6):c.3656C>T (p.Thr1219Ile)

SNV
Germline/somatic

Chr2:47806213

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Neoplasm
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA013759

rs_63750949

5 SubmittersRCV000572978 RCV001222841 RCV004668770 RCV003450976

NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)

SNV
Germline

Chr2:47806231

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
not specified
Malignant tumor of breast
Ovarian cancer
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013768

rs_63750370

16 SubmittersRCV000160696 RCV000212686 RCV000410774 RCV000524182 RCV000780485 RCV001354592 RCV003153344 RCV003460688 RCV003997095

NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu)

SNV
Germline

Chr2:47806236

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA013789

rs_587779282

9 SubmittersRCV000217680 RCV000574037 RCV000625244 RCV001854284 RCV004566922

NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser)

SNV
Germline

Chr2:47806281

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA014030

rs_587779285

8 SubmittersRCV000216969 RCV000684809 RCV000767045 RCV003460689 RCV004017385 RCV005862969

NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)

SNV
Germline

Chr2:47806319

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
MSH6-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA014214

rs_375459388

13 SubmittersRCV000160699 RCV000212689 RCV000408995 RCV000524187 RCV000587284 RCV004537280 RCV003997096

NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter)

SNV
Germline

Chr2:47806325

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5

Reviewed By Expert Panel

CA014232

rs_63751058

13 SubmittersRCV000074926 RCV000202271 RCV000491038 RCV000546623 RCV003450979 RCV003460691 RCV003483461

NM_000179.3(MSH6):c.3772C>T (p.Gln1258Ter)

SNV
Germline

Chr2:47806329

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA014244

rs_63750554

3 SubmittersRCV000074927 RCV004696680 RCV003593872

NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys)

SNV
Germline

Chr2:47806344

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA014275

rs_367912290

12 SubmittersRCV000164843 RCV000485038 RCV000559935 RCV000659897 RCV003235031 RCV003460692 RCV004804044

NM_000179.3(MSH6):c.3838C>T (p.Gln1280Ter)

SNV
Germline

Chr2:47806488

Pathogenic

Lynch syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA014495

rs_63750139

8 SubmittersRCV000074940 RCV000603416 RCV001229855 RCV002362701 RCV001723643

NM_000179.3(MSH6):c.383G>T (p.Arg128Leu)

SNV
Germline

Chr2:47791049

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
not specified
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA014504

rs_63750143

12 SubmittersRCV000074941 RCV000165162 RCV000485426 RCV000545223 RCV000765680 RCV002265595 RCV004566923 RCV005600636

NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)

SNV
Germline

Chr2:47806501

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Endometrial carcinoma
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA014580

rs_63750836

16 SubmittersRCV000131709 RCV000454725 RCV000662523 RCV000759868 RCV001082428 RCV001357732 RCV003448259 RCV003492403

NM_000179.3(MSH6):c.3930G>C (p.Glu1310Asp)

SNV
Germline

Chr2:47806580

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA014716

rs_267608129

9 SubmittersRCV000129017 RCV000524194 RCV001548132 RCV001804807 RCV003997097 RCV004566924 RCV005600637

NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)

SNV
Germline

Chr2:47806611

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, early onset
not specified
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA014874

rs_41295278

23 SubmittersRCV000074958 RCV000115425 RCV000148646 RCV000202255 RCV000410058 RCV000590664 RCV001082577 RCV001355442 RCV004528273

NM_000179.3(MSH6):c.4001+2T>C

SNV
Germline

Chr2:47806653

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Reviewed By Expert Panel

CA015138

rs_267608131

7 SubmittersRCV000074969 RCV000491060 RCV000812440 RCV002267832 RCV003450986

NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)

SNV
Germline

Chr2:47806651

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA015202

rs_267608122

20 SubmittersRCV000074974 RCV000160701 RCV000491705 RCV000542786 RCV000576708 RCV001355904 RCV004799778

NM_000179.3(MSH6):c.4002-10T>A

SNV
Germline

Chr2:47806769

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
See cases
Breast and/or ovarian cancer
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA015230

rs_545466048

19 SubmittersRCV000160702 RCV000590285 RCV000771079 RCV000986753 RCV001081736 RCV001357666 RCV002287361 RCV003149725 RCV004542745

NM_000179.3(MSH6):c.426G>A (p.Trp142Ter)

SNV
Germline

Chr2:47791092

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma

Reviewed By Expert Panel

CA015491

rs_63750342

6 SubmittersRCV000074987 RCV000144625 RCV002326786 RCV003450987 RCV003311675 RCV003460698

NM_000179.3(MSH6):c.457+2T>A

SNV
Germline

Chr2:47791125

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA015582

rs_267608036

1 SubmittersRCV000074993

NM_000179.3(MSH6):c.458-17A>G

SNV
Germline

Chr2:47795877

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA015619

rs_554847828

5 SubmittersRCV000662516 RCV000774587 RCV001854287

NM_000179.3(MSH6):c.458-1G>A

SNV
Germline

Chr2:47795893

Likely pathogenic

Lynch syndrome 5
Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA015627

rs_267608035

4 SubmittersRCV003450988 RCV000075000 RCV001190339

NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)

SNV
Germline

Chr2:47795903

Pathogenic

Lynch syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Carcinoma of colon
Endometrial carcinoma
MSH6-related disorder
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA015662

rs_63749873

20 SubmittersRCV000075003 RCV000172813 RCV000201956 RCV000524207 RCV000490955 RCV000576312 RCV001357340 RCV003466952 RCV004739337 RCV004782043

NM_000179.3(MSH6):c.599C>A (p.Ser200Ter)

SNV
Germline

Chr2:47796035

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Reviewed By Expert Panel

CA015935

rs_63751077

3 SubmittersRCV000075008 RCV005089502 RCV004814996

NM_000179.3(MSH6):c.642C>A (p.Tyr214Ter)

SNV
Germline

Chr2:47798625

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA016077

rs_1800937

4 SubmittersRCV000075015 RCV001071476 RCV003162479

NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter)

SNV
Germline

Chr2:47798625

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome 5

Reviewed By Expert Panel

CA016086

rs_1800937

9 SubmittersRCV000075016 RCV000485263 RCV000703480 RCV001025256 RCV002477214 RCV003450990

NM_000179.3(MSH6):c.652A>T (p.Lys218Ter)

SNV
Germline

Chr2:47798635

Pathogenic

Lynch syndrome
Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA016159

rs_587779315

4 SubmittersRCV000075019 RCV001355616 RCV001386352 RCV002362702

NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)

SNV
Germline

Chr2:47798646

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Abnormality of the ovary
Breast and/or ovarian cancer
Hereditary cancer
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Conflicting Classifications

CA016186

rs_41557217

27 SubmittersRCV000115440 RCV000121575 RCV000588752 RCV000659887 RCV001083709 RCV001353587 RCV001564013 RCV001798257 RCV003492405 RCV006555418

NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)

SNV
Germline

Chr2:47798677

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma

Reviewed By Expert Panel

CA016261

rs_587779318

11 SubmittersRCV000075025 RCV000412800 RCV001383732 RCV002362703 RCV003450991 RCV003460700

NM_000179.3(MSH6):c.706C>T (p.Gln236Ter)

SNV
Germline

Chr2:47798689

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA016297

rs_63750996

2 SubmittersRCV000075026 RCV002362704

NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)

SNV
Germline

Chr2:47798701

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Carcinoma of colon
Lynch syndrome 5
Endometrial carcinoma
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA016325

rs_63750019

18 SubmittersRCV000075028 RCV000220361 RCV000657653 RCV000704209 RCV001310159 RCV001358367 RCV002288564 RCV003460701 RCV005237500

NM_000179.3(MSH6):c.730C>T (p.Gln244Ter)

SNV
Germline

Chr2:47798713

Pathogenic

Lynch syndrome
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Reviewed By Expert Panel

CA016353

rs_267608066

6 SubmittersRCV000075029 RCV000984323 RCV002381377 RCV002513799 RCV003144122

NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)

SNV
Germline

Chr2:47783306

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Mismatch repair cancer syndrome 1
Endometrial carcinoma
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
MSH6-related disorder
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA016371

rs_267608026

21 SubmittersRCV000075031 RCV000115442 RCV000417385 RCV000524214 RCV000765674 RCV001082180 RCV003482130 RCV004528274 RCV005394306 RCV005420539

NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)

SNV
Germline

Chr2:47798725

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 5
Endometrial carcinoma

Reviewed By Expert Panel

CA016391

rs_63749980

15 SubmittersRCV000075032 RCV000486750 RCV000490932 RCV000524215 RCV001193103 RCV002288565 RCV003460702

NM_000179.3(MSH6):c.751A>G (p.Ile251Val)

SNV
Germline

Chr2:47798734

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA016421

rs_554884560

10 SubmittersRCV000215096 RCV000220612 RCV000662409 RCV000630227 RCV003997102 RCV003460703 RCV006273095

NM_000179.3(MSH6):c.753A>G (p.Ile251Met)

SNV
Germline

Chr2:47798736

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA016429

rs_587779321

7 SubmittersRCV000506023 RCV000803732 RCV001026537 RCV003997103 RCV004767059 RCV005357450

NM_000179.3(MSH6):c.755C>G (p.Ser252Ter)

SNV
Germline

Chr2:47798738

Pathogenic

Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5

Reviewed By Expert Panel

CA016437

rs_267608048

3 SubmittersRCV000075035 RCV001354709 RCV003450992

NM_000179.3(MSH6):c.806C>G (p.Thr269Ser)

SNV
Germline

Chr2:47798789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016470

rs_587779322

8 SubmittersRCV000568144 RCV000684794 RCV000759873 RCV002267836 RCV002504983 RCV003997104

NM_000179.3(MSH6):c.814G>T (p.Glu272Ter)

SNV
Germline

Chr2:47798797

Pathogenic

Lynch syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA016485

rs_63750552

3 SubmittersRCV000075038 RCV003450994 RCV005089503

NM_000179.3(MSH6):c.854G>T (p.Ser285Ile)

SNV
Germline

Chr2:47798837

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA016543

rs_63750878

11 SubmittersRCV000160657 RCV000148648 RCV000212635 RCV000556949 RCV001174593 RCV003997105 RCV004566926 RCV005025120

NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)

SNV
Germline

Chr2:47798867

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA016588

rs_267608051

18 SubmittersRCV000075042 RCV000115445 RCV000212636 RCV000410872 RCV000512927 RCV000524217 RCV004700373

NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)

SNV
Germline

Chr2:47798875

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome 1
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA016604

rs_146816935

17 SubmittersRCV000075043 RCV000130865 RCV000149892 RCV000551832 RCV003450996 RCV003466953 RCV005861043 RCV005394307 RCV006439624

NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)

SNV
Germline

Chr3:37020438

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, non-polyposis
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Lynch syndrome
MLH1-related disorder
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA004051

rs_63751467

20 SubmittersRCV000128912 RCV000148621 RCV000220791 RCV000524219 RCV000656860 RCV000764485 RCV001356843 RCV003483462 RCV003997106 RCV004748551 RCV005246613 RCV004700374

NM_000249.4(MLH1):c.1037A>G (p.Gln346Arg)

SNV
Germline

Chr3:37020462

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA004077

rs_63751609

2 SubmittersRCV000075079 RCV003593873

NM_000249.4(MLH1):c.1038+1G>C

SNV
Germline/somatic

Chr3:37020464

Likely pathogenic

Lynch syndrome
Lynch syndrome 1
Lynch-like syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Reviewed By Expert Panel

CA004088

rs_267607816

6 SubmittersRCV000075082 RCV001093692 RCV001249908 RCV003450998 RCV002514334 RCV005357454

NM_000249.4(MLH1):c.1038G>A (p.Gln346=)

SNV
Germline

Chr3:37020463

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA004100

rs_63751715

10 SubmittersRCV000075085 RCV000214854 RCV000506818 RCV000629976 RCV003450999 RCV006262326

NM_000249.4(MLH1):c.1038G>C (p.Gln346His)

SNV
Germline

Chr3:37020463

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004104

rs_63751715

3 SubmittersRCV000075086 RCV002390211 RCV002243695

NM_000249.4(MLH1):c.1038G>T (p.Gln346His)

SNV
Germline

Chr3:37020463

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA004107

rs_63751715

2 SubmittersRCV000075087 RCV002390212

NM_000249.4(MLH1):c.1039-1G>A

SNV
Germline

Chr3:37025636

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004114

rs_267607819

10 SubmittersRCV000075088 RCV000153506 RCV001201713 RCV002390213 RCV003451000

NM_000249.4(MLH1):c.1039-2A>G

SNV
Germline/somatic

Chr3:37025635

Likely pathogenic

Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
MLH1-related disorder
Hereditary nonpolyposis colorectal neoplasms
Familial cancer of breast

Reviewed By Expert Panel

CA004118

rs_267607815

7 SubmittersRCV000075090 RCV003441739 RCV003137609 RCV003390766 RCV002514335 RCV005357455

NM_000249.4(MLH1):c.1039-2A>T

SNV
Germline

Chr3:37025635

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA004123

rs_267607815

2 SubmittersRCV000075091 RCV003162481

NM_000249.4(MLH1):c.104T>G (p.Met35Arg)

SNV
Germline

Chr3:36993651

Pathogenic

Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004200

rs_63749906

5 SubmittersRCV001269567 RCV000075100 RCV002399429 RCV001353714 RCV003451002

NM_000249.4(MLH1):c.109G>A (p.Glu37Lys)

SNV
Germline/somatic

Chr3:36993656

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA004328

rs_63751012

4 SubmittersRCV000075110 RCV000693918 RCV001357016 RCV003451004

NM_000249.4(MLH1):c.109G>T (p.Glu37Ter)

SNV
Germline

Chr3:36993656

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA004335

rs_63751012

1 SubmittersRCV000075111

NM_000249.4(MLH1):c.112A>C (p.Asn38His)

SNV
Germline

Chr3:36993659

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004399

rs_63750580

5 SubmittersRCV000075115 RCV000129232 RCV001034681 RCV001804811 RCV003451006

NM_000249.4(MLH1):c.113A>G (p.Asn38Ser)

SNV
Germline

Chr3:36993660

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA004445

rs_587778888

3 SubmittersRCV000075118 RCV000688444 RCV004943740

NM_000249.4(MLH1):c.114C>G (p.Asn38Lys)

SNV
Germline

Chr3:36993661

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004476

rs_267607706

5 SubmittersRCV000075121 RCV001206557 RCV001176886 RCV003451007

NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)

SNV
Germline

Chr3:37025751

Conflicting classifications of pathogenicity

Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer
Childhood neoplasm

Criteria Provided
Conflicting Classifications

CA004503

rs_63750760

16 SubmittersRCV000075124 RCV000202088 RCV000217569 RCV000490290 RCV000524225 RCV000656862 RCV000764489 RCV001030628 RCV003149731 RCV003492407 RCV005621869

NM_000249.4(MLH1):c.116+1G>A

SNV
Germline

Chr3:36993664

Likely pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA004527

rs_267607709

8 SubmittersRCV000075127 RCV000709737 RCV001294059 RCV001284001 RCV002354257 RCV002514337

NM_000249.4(MLH1):c.116+5G>C

SNV
Germline

Chr3:36993668

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004556

rs_267607710

8 SubmittersRCV000075129 RCV000413453 RCV000694368 RCV000776333 RCV001358274 RCV003451008

NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp)

SNV
Germline

Chr3:37025763

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA004549

rs_61751644

10 SubmittersRCV000075132 RCV000165994 RCV000627719 RCV000582826 RCV001563149 RCV003444197

NM_000249.4(MLH1):c.1171C>T (p.Gln391Ter)

SNV
Germline

Chr3:37025769

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Reviewed By Expert Panel

CA004606

rs_587778894

5 SubmittersRCV000075144 RCV001034673 RCV002288566 RCV005357457

NM_000249.4(MLH1):c.1192C>T (p.Gln398Ter)

SNV
Germline

Chr3:37025790

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA004676

rs_63750483

4 SubmittersRCV000075146 RCV001383026 RCV003451011 RCV002336222

NM_000249.4(MLH1):c.121G>C (p.Asp41His)

SNV
Germline

Chr3:36996623

Pathogenic

Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA004758

rs_267607713

3 SubmittersRCV000075155 RCV000255808 RCV003593875

NM_000249.4(MLH1):c.1225C>T (p.Gln409Ter)

SNV
Germline

Chr3:37025823

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Reviewed By Expert Panel

CA004765

rs_63751153

6 SubmittersRCV000075156 RCV000541219 RCV002362706 RCV003451013 RCV005229881

NM_000249.4(MLH1):c.122A>G (p.Asp41Gly)

SNV
Germline

Chr3:36996624

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004780

rs_63751094

5 SubmittersRCV000675183 RCV001216631 RCV002362707 RCV003451014

NM_000249.4(MLH1):c.1266C>T (p.Gly422=)

SNV
Germline

Chr3:37025864

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
not specified
Lynch syndrome
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA004884

rs_63750791

13 SubmittersRCV000218731 RCV000524230 RCV000662538 RCV001355583 RCV001818238 RCV003997107 RCV004748552

NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter)

SNV
Germline

Chr3:37025874

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004908

rs_63750316

9 SubmittersRCV000075164 RCV000571335 RCV000690382 RCV003129769

NM_000249.4(MLH1):c.1327A>C (p.Lys443Gln)

SNV
Germline

Chr3:37025925

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004995

rs_34213726

6 SubmittersRCV000144608 RCV000219360 RCV000697163 RCV001703974 RCV003997108

NM_000249.4(MLH1):c.1409+1G>A

SNV
Germline

Chr3:37026008

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA005246

rs_267607825

11 SubmittersRCV000075192 RCV000220831 RCV000524237 RCV000519388 RCV003451024 RCV004782044

NM_000249.4(MLH1):c.1409+1G>C

SNV
Germline

Chr3:37026008

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Familial cancer of breast

Reviewed By Expert Panel

CA005254

rs_267607825

6 SubmittersRCV000075193 RCV002390216 RCV002281908 RCV002513800 RCV003451025 RCV005357460

NM_000249.4(MLH1):c.1409+2T>G

SNV
Germline

Chr3:37026009

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA005261

rs_587778911

1 SubmittersRCV000075194

NM_000249.4(MLH1):c.1420C>T (p.Arg474Trp)

SNV
Germline/somatic

Chr3:37028794

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified

Criteria Provided
Conflicting Classifications

CA005399

rs_147939838

10 SubmittersRCV000075209 RCV000679267 RCV000820563 RCV001011503 RCV003460706 RCV004689443

NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln)

SNV
Germline

Chr3:37028795

Conflicting classifications of pathogenicity

Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA005413

rs_63751083

10 SubmittersRCV000662517 RCV000685340 RCV000776166 RCV002247468 RCV003129770 RCV003997111

NM_000249.4(MLH1):c.142C>T (p.Gln48Ter)

SNV
Germline

Chr3:36996644

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005419

rs_587778913

8 SubmittersRCV000075212 RCV000219426 RCV001214512 RCV001270940 RCV002390218 RCV003451027

NM_000249.4(MLH1):c.143A>C (p.Gln48Pro)

SNV
Germline

Chr3:36996645

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA005432

rs_587778914

4 SubmittersRCV000075213 RCV001069994 RCV003451028 RCV004943741

NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)

SNV
Germline/somatic

Chr3:37028833

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Lynch syndrome 1
Lynch-like syndrome
Carcinoma of colon
MLH1-related disorder
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA005475

rs_63749795

26 SubmittersRCV000075218 RCV000128870 RCV000255034 RCV000524240 RCV000662808 RCV000763103 RCV001093677 RCV001249944 RCV001353584 RCV004748554 RCV006261949

NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln)

SNV
Germline

Chr3:37028834

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Breast and/or ovarian cancer
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA005483

rs_587778917

12 SubmittersRCV000218037 RCV000480533 RCV000630048 RCV001257464 RCV003492408 RCV003997113 RCV004595908

NM_000249.4(MLH1):c.1462A>T (p.Lys488Ter)

SNV
Germline

Chr3:37028836

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005491

rs_587778918

2 SubmittersRCV000075220 RCV005600639

NM_000249.4(MLH1):c.146T>A (p.Val49Glu)

SNV
Germline

Chr3:36996648

Pathogenic

Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005522

rs_63750098

2 SubmittersRCV000075223 RCV005394310

NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr)

SNV
Germline

Chr3:37028848

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA005528

rs_63751145

14 SubmittersRCV000075224 RCV000132236 RCV000212538 RCV000524241 RCV003478994 RCV003474657 RCV005394311

NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg)

SNV
Germline

Chr3:37028861

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA005534

rs_63750226

13 SubmittersRCV000221321 RCV000409591 RCV000483364 RCV000627722 RCV000764493 RCV002228178 RCV003997114

NM_000249.4(MLH1):c.1528C>T (p.Gln510Ter)

SNV
Germline

Chr3:37028902

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005676

rs_63749923

4 SubmittersRCV000075235 RCV000699744 RCV002390219 RCV003451030

NM_000249.4(MLH1):c.1534G>T (p.Glu512Ter)

SNV
Germline

Chr3:37028908

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005696

rs_63751472

5 SubmittersRCV000075236 RCV001786332 RCV001854291 RCV002399430 RCV003451031

NM_000249.4(MLH1):c.1549G>T (p.Gly517Ter)

SNV
Germline

Chr3:37028923

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA005724

rs_63751705

2 SubmittersRCV000075239 RCV002399431

NM_000249.4(MLH1):c.1558+1G>T

SNV
Germline

Chr3:37028933

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome 1

Reviewed By Expert Panel

CA005817

rs_267607832

4 SubmittersRCV000075246 RCV002399432 RCV003315592 RCV001804813

NM_000249.4(MLH1):c.1558+2T>G

SNV
Germline

Chr3:37028934

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA005833

rs_267607831

1 SubmittersRCV000075248

NM_000249.4(MLH1):c.1559-1G>A

SNV
Germline

Chr3:37040185

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Carcinoma of colon
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005884

rs_267607837

6 SubmittersRCV000075253 RCV001238289 RCV001267988 RCV001358119 RCV002399433 RCV003451032

NM_000249.4(MLH1):c.1559-1G>C

SNV
Germline

Chr3:37040185

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Reviewed By Expert Panel

CA005891

rs_267607837

10 SubmittersRCV000075254 RCV000539690 RCV001012154 RCV001091800 RCV003448260 RCV003455989 RCV005237501 RCV005644505

NM_000249.4(MLH1):c.1559-1G>T

SNV
Germline

Chr3:37040185

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005896

rs_267607837

9 SubmittersRCV000075255 RCV000485205 RCV000799045 RCV001193241 RCV002399434 RCV003451033

NM_000249.4(MLH1):c.1559-2A>C

SNV
Germline

Chr3:37040184

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Reviewed By Expert Panel

CA005902

rs_267607836

4 SubmittersRCV000075256 RCV000524243 RCV003451034 RCV004696681

NM_000249.4(MLH1):c.1559-2A>G

SNV
Germline

Chr3:37040184

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA005907

rs_267607836

7 SubmittersRCV000075257 RCV000410283 RCV000520869 RCV001201368 RCV004943742

NM_000249.4(MLH1):c.1559-2A>T

SNV
Germline

Chr3:37040184

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA005913

rs_267607836

2 SubmittersRCV000075258 RCV002399435

NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)

SNV
Germline

Chr3:37040192

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA005937

rs_63751630

15 SubmittersRCV000075265 RCV000483197 RCV000662491 RCV000566893 RCV000627718 RCV001778702 RCV005025121

NM_000249.4(MLH1):c.1574T>A (p.Leu525Ter)

SNV
Germline

Chr3:37040201

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005996

rs_587778929

4 SubmittersRCV000075271 RCV001180387 RCV003451038

NM_000249.4(MLH1):c.1609C>T (p.Gln537Ter)

SNV
Germline

Chr3:37040236

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006033

rs_63751277

5 SubmittersRCV000075275 RCV001354465 RCV002390220 RCV002513801 RCV003451039

NM_000249.4(MLH1):c.1613G>A (p.Trp538Ter)

SNV
Germline

Chr3:37040240

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006106

rs_587778933

4 SubmittersRCV000075276 RCV000567360 RCV000545817 RCV003451040

NM_000249.4(MLH1):c.1614G>A (p.Trp538Ter)

SNV
Germline

Chr3:37040241

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006115

rs_267607842

3 SubmittersRCV000075277 RCV002399437 RCV003451041

NM_000249.4(MLH1):c.1624C>T (p.Gln542Ter)

SNV
Germline

Chr3:37040251

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006166

rs_63750192

8 SubmittersRCV000075283 RCV000657575 RCV001201351 RCV002399438 RCV003451042

NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)

SNV
Germline

Chr3:37040260

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Breast and/or ovarian cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
MLH1-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA006190

rs_267607840

21 SubmittersRCV000130610 RCV000212542 RCV000524244 RCV000606136 RCV000656863 RCV003492409 RCV005025122 RCV003935009 RCV003997116

NM_000249.4(MLH1):c.1640T>A (p.Leu547Ter)

SNV
Germline

Chr3:37040267

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA006204

rs_63750300

3 SubmittersRCV000075288 RCV002399439 RCV002514340

NM_000249.4(MLH1):c.1644C>G (p.Tyr548Ter)

SNV
Germline

Chr3:37040271

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA006215

rs_63751087

2 SubmittersRCV000075289 RCV002399440

NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro)

SNV
Germline

Chr3:37040276

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006231

rs_63750193

4 SubmittersRCV000075292 RCV000570739 RCV001212034 RCV003451045

NM_000249.4(MLH1):c.1664T>C (p.Leu555Pro)

SNV
Germline

Chr3:37040291

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006269

rs_587778937

3 SubmittersRCV000075296 RCV002399441 RCV003451046

NM_000249.4(MLH1):c.1667G>T (p.Ser556Ile)

SNV
Germline

Chr3:37040294

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA006292

rs_63751596

1 SubmittersRCV000075299

NM_000249.4(MLH1):c.1668-1G>A

SNV
Germline/somatic

Chr3:37042267

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006307

rs_267607845

10 SubmittersRCV000075300 RCV000214110 RCV000629693 RCV001353428 RCV003451048

NM_000249.4(MLH1):c.1668-1G>T

SNV
Germline

Chr3:37042267

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006313

rs_267607845

5 SubmittersRCV000075301 RCV001854292 RCV003451049

NM_000249.4(MLH1):c.1668-3C>A

SNV
Germline

Chr3:37042265

Likely pathogenic

Lynch syndrome
Carcinoma of colon
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA006330

rs_267607844

3 SubmittersRCV000075303 RCV000503705 RCV002399442

NM_000249.4(MLH1):c.1669G>T (p.Glu557Ter)

SNV
Germline

Chr3:37042269

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006349

rs_63751244

5 SubmittersRCV000075308 RCV000791445 RCV002399443 RCV003455990

NM_000249.4(MLH1):c.1672G>T (p.Glu558Ter)

SNV
Germline

Chr3:37042272

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA006355

rs_63751081

3 SubmittersRCV000075309 RCV002399444 RCV005861044

NM_000249.4(MLH1):c.1683C>G (p.Tyr561Ter)

SNV
Germline

Chr3:37042283

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006384

rs_63751393

4 SubmittersRCV000075312 RCV000703498 RCV001012704 RCV003451050

NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter)

SNV
Germline

Chr3:37042284

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006391

rs_63751460

6 SubmittersRCV000075313 RCV001240104 RCV001192578 RCV001310198 RCV002408574 RCV003451051

NM_000249.4(MLH1):c.1693A>T (p.Ile565Phe)

SNV
Germline

Chr3:37042293

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA006426

rs_63750062

8 SubmittersRCV000160538 RCV000234862 RCV000627705 RCV001354474 RCV005246618

NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro)

SNV
Germline/somatic

Chr3:37042321

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA006493

rs_63751608

4 SubmittersRCV000075320 RCV000698457 RCV002408575

NM_000249.4(MLH1):c.1731+1G>A

SNV
Germline/somatic

Chr3:37042332

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006527

rs_267607853

9 SubmittersRCV000075322 RCV000574302 RCV001250003 RCV001579372 RCV002514341 RCV003451053

NM_000249.4(MLH1):c.1731+1G>C

SNV
Germline/somatic

Chr3:37042332

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA006535

rs_267607853

5 SubmittersRCV000075323 RCV000693129 RCV003451054 RCV002408576

NM_000249.4(MLH1):c.1731+1G>T

SNV
Germline

Chr3:37042332

Likely pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA006540

rs_267607853

7 SubmittersRCV000075324 RCV000576509 RCV000685725 RCV001567027 RCV002408577

NM_000249.4(MLH1):c.1731+2T>G

SNV
Germline

Chr3:37042333

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA006555

rs_267607856

4 SubmittersRCV000075326 RCV000797048 RCV003451055 RCV006406650

NM_000249.4(MLH1):c.1731+3A>T

SNV
Germline

Chr3:37042334

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA006561

rs_267607851

1 SubmittersRCV000075327

NM_000249.4(MLH1):c.1731+5G>A

SNV
Germline

Chr3:37042336

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Reviewed By Expert Panel

CA006570

rs_267607850

7 SubmittersRCV000075328 RCV001012888 RCV001201385 RCV002279946 RCV003451056 RCV005357461

NM_000249.4(MLH1):c.1731G>A (p.Ser577=)

SNV
Germline

Chr3:37042331

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer
Colon cancer
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Breast and/or ovarian cancer
MLH1-related disorder

Reviewed By Expert Panel

CA006585

rs_63751657

21 SubmittersRCV000075331 RCV000132025 RCV000202231 RCV000524246 RCV000662481 RCV001553748 RCV001580146 RCV001804815 RCV002483122 RCV003492410 RCV004748555

NM_000249.4(MLH1):c.1732-1G>A

SNV
Germline

Chr3:37047518

Pathogenic

Lynch syndrome
Carcinoma of colon
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006615

rs_267607854

5 SubmittersRCV000075333 RCV001355292 RCV002408578 RCV002514342 RCV003451057

NM_000249.4(MLH1):c.1732-2A>G

SNV
Germline

Chr3:37047517

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006625

rs_267607852

5 SubmittersRCV000075335 RCV000506870 RCV001386351 RCV002399446 RCV003451058

NM_000249.4(MLH1):c.1732-2A>T

SNV
Germline

Chr3:37047517

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA006632

rs_267607852

2 SubmittersRCV000075336 RCV003451059

NM_000249.4(MLH1):c.1744C>G (p.Leu582Val)

SNV
Germline

Chr3:37047531

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA006690

rs_63751713

7 SubmittersRCV000571505 RCV000627697 RCV001030630 RCV001193957 RCV004019101 RCV003997117

NM_000249.4(MLH1):c.1745T>C (p.Leu582Pro)

SNV
Germline

Chr3:37047532

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA006717

rs_63751616

1 SubmittersRCV000075347

NM_000249.4(MLH1):c.1766C>A (p.Ala589Asp)

SNV
Germline

Chr3:37047553

Likely pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA006836

rs_63750016

3 SubmittersRCV000075360 RCV003451065 RCV005672318

NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter)

SNV
Germline

Chr3:37047577

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA006929

rs_63750604

9 SubmittersRCV000075365 RCV000479277 RCV000565193 RCV001354093 RCV003451068 RCV003153348 RCV003492411

NM_000249.4(MLH1):c.1810A>T (p.Lys604Ter)

SNV
Germline

Chr3:37047597

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Reviewed By Expert Panel

CA006984

rs_63750386

4 SubmittersRCV000075370 RCV002255277 RCV003451069 RCV000985779

NM_000249.4(MLH1):c.184C>T (p.Gln62Ter)

SNV
Germline

Chr3:36996686

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA007117

rs_63751428

9 SubmittersRCV000075379 RCV000217644 RCV000254916 RCV000694109 RCV003451072

NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)

SNV
Germline

Chr3:37047639

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA007156

rs_35001569

21 SubmittersRCV000114852 RCV000132423 RCV000174992 RCV000663286 RCV001083570 RCV003149734 RCV003997118

NM_000249.4(MLH1):c.1852A>T (p.Lys618Ter)

SNV
Germline

Chr3:37047639

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA007164

rs_35001569

1 SubmittersRCV000075381

NM_000249.4(MLH1):c.1855G>C (p.Ala619Pro)

SNV
Germline

Chr3:37047642

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA007222

rs_267607866

4 SubmittersRCV000075387 RCV000165622 RCV000548274 RCV003451073

NM_000249.4(MLH1):c.1865T>C (p.Leu622Pro)

SNV
Germline

Chr3:37047652

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA007245

rs_63750693

3 SubmittersRCV000075390 RCV001201390 RCV002408581

NM_000249.4(MLH1):c.1875T>G (p.Tyr625Ter)

SNV
Germline

Chr3:37047662

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA007270

rs_63751415

1 SubmittersRCV000075393

NM_000249.4(MLH1):c.187G>A (p.Asp63Asn)

SNV
Germline

Chr3:36996689

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA007334

rs_63750850

6 SubmittersRCV000075399 RCV000160535 RCV000212515 RCV000694220 RCV003460707

NM_000249.4(MLH1):c.1896+1G>A

SNV
Germline

Chr3:37047684

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA007410

rs_267607867

4 SubmittersRCV000075404 RCV000541555 RCV002408583 RCV003451077

NM_000249.4(MLH1):c.1896+1G>T

SNV
Germline

Chr3:37047684

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA007419

rs_267607867

8 SubmittersRCV000075405 RCV000479456 RCV000684807 RCV001013523 RCV002288568

NM_000249.4(MLH1):c.1896+2T>C

SNV
Germline

Chr3:37047685

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA007427

rs_267607869

4 SubmittersRCV000075407 RCV001854293 RCV002408584 RCV003235032

NM_000249.4(MLH1):c.1896G>A (p.Glu632=)

SNV
Germline

Chr3:37047683

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA007444

rs_63751632

16 SubmittersRCV000075409 RCV000498248 RCV000524256 RCV000605751 RCV001013527 RCV001193961

NM_000249.4(MLH1):c.1897-2A>G

SNV
Germline

Chr3:37048515

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
not specified
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA007469

rs_267607871

14 SubmittersRCV000075411 RCV000524638 RCV000487325 RCV000662785 RCV000570210 RCV000763104 RCV001844029 RCV005357463 RCV005638419

NM_000249.4(MLH1):c.189C>A (p.Asp63Glu)

SNV
Germline

Chr3:36996691

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA007476

rs_587778955

2 SubmittersRCV000075413 RCV004943743

NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)

SNV
Germline/somatic

Chr3:37048538

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Carcinoma of colon
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Neoplasm

Reviewed By Expert Panel

CA007602

rs_63749792

9 SubmittersRCV000075424 RCV000569430 RCV000791363 RCV001193959 RCV001354000 RCV002223786 RCV002291271 RCV006273096

NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu)

SNV
Germline

Chr3:37048539

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA007611

rs_267607875

5 SubmittersRCV000075425 RCV000821758 RCV002408588 RCV003451083 RCV006273097

NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)

SNV
Germline

Chr3:36996693

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary breast ovarian cancer syndrome
MLH1-related disorder
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified

Criteria Provided
Conflicting Classifications

CA007619

rs_63750952

19 SubmittersRCV000075426 RCV000217492 RCV000513562 RCV000490571 RCV000708912 RCV001262297 RCV002288569 RCV004760365 RCV004748556 RCV005025123 RCV005055564

NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)

SNV
Germline

Chr3:37048563

Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Reviewed By Expert Panel

CA007716

rs_63750610

8 SubmittersRCV000075433 RCV000221413 RCV000477957 RCV000812087 RCV001269952 RCV003997119

NM_000249.4(MLH1):c.194G>A (p.Gly65Asp)

SNV
Germline

Chr3:36996696

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA007735

rs_63751465

3 SubmittersRCV000075435 RCV000564174 RCV001201396

NM_000249.4(MLH1):c.1958T>G (p.Leu653Arg)

SNV
Germline

Chr3:37048578

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA007760

rs_63751202

4 SubmittersRCV000075437 RCV001203288 RCV003451086 RCV002415523

NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu)

SNV
Germline

Chr3:37048581

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast carcinoma
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
MLH1-related disorder
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA007789

rs_63750726

11 SubmittersRCV000075439 RCV000215855 RCV001201909 RCV001554328 RCV002415524 RCV002463635 RCV004724792 RCV006451918

NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter)

SNV
Germline

Chr3:37048595

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA007865

rs_63751310

15 SubmittersRCV000075444 RCV000128869 RCV000202252 RCV000524261 RCV003226186 RCV003451087

NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln)

SNV
Germline

Chr3:37048596

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA007891

rs_63749900

13 SubmittersRCV000121365 RCV000568527 RCV000656865 RCV001081501 RCV003997120 RCV005031554 RCV005600642

NM_000249.4(MLH1):c.1976G>C (p.Arg659Pro)

SNV
Germline

Chr3:37048596

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA007900

rs_63749900

6 SubmittersRCV000075447 RCV001064800 RCV002415525 RCV003237435 RCV003451088 RCV005252732

NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu)

SNV
Germline

Chr3:37048596

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA007908

rs_63749900

5 SubmittersRCV000075448 RCV000572238 RCV006449978 RCV005089506

NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro)

SNV
Germline

Chr3:37048604

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA007926

rs_587778964

6 SubmittersRCV000075450 RCV000524263 RCV001013906 RCV003451089 RCV005237503

NM_000249.4(MLH1):c.1989+1G>A

SNV
Germline

Chr3:37048610

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA090784

rs_267607879

4 SubmittersRCV000075455 RCV000691557 RCV002415526

NM_000249.4(MLH1):c.1989+1G>C

SNV
Germline

Chr3:37048610

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome

Reviewed By Expert Panel

CA007969

rs_267607879

6 SubmittersRCV000075456 RCV001054272 RCV003451090 RCV004696684 RCV004943744 RCV005862970

NM_000249.4(MLH1):c.1989+1G>T

SNV
Germline

Chr3:37048610

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA007977

rs_267607879

7 SubmittersRCV000075457 RCV000679272 RCV000794468 RCV001180388

NM_000249.4(MLH1):c.1989+5G>C

SNV
Germline/somatic

Chr3:37048614

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA007990

rs_267607878

5 SubmittersRCV000075459 RCV001040247 RCV002415527 RCV003451091 RCV006259000

NM_000249.4(MLH1):c.1989G>A (p.Glu663=)

SNV
Germline

Chr3:37048609

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008008

rs_63751662

5 SubmittersRCV000075461 RCV000508038 RCV000680174 RCV001525221

NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp)

SNV
Germline

Chr3:37048609

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008016

rs_63751662

7 SubmittersRCV000075462 RCV000256174 RCV000524264 RCV001353681 RCV002415528

NM_000249.4(MLH1):c.1990-1G>A

SNV
Germline

Chr3:37048903

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA008052

rs_267607884

5 SubmittersRCV000075467 RCV001013970 RCV000985780 RCV003593880

NM_000249.4(MLH1):c.1990-1G>T

SNV
Germline/somatic

Chr3:37048903

Likely pathogenic

Lynch syndrome
Lynch-like syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA008060

rs_267607884

3 SubmittersRCV000075468 RCV001250002 RCV001854294

NM_000249.4(MLH1):c.1990-2A>G

SNV
Germline

Chr3:37048902

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008068

rs_267607883

5 SubmittersRCV000075469 RCV000202242 RCV000690743 RCV003466957 RCV004943745

NM_000249.4(MLH1):c.1998G>A (p.Trp666Ter)

SNV
Germline

Chr3:37048912

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA008096

rs_63750639

4 SubmittersRCV000075473 RCV000627203 RCV002415529 RCV002514344

NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)

SNV
Germline/somatic

Chr3:36996701

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch-like syndrome
Lynch syndrome 1
Carcinoma of colon
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA008104

rs_63750206

25 SubmittersRCV000075474 RCV000128871 RCV000202032 RCV000524266 RCV000662719 RCV001249945 RCV001310195 RCV001353779 RCV001290649

NM_000249.4(MLH1):c.1A>G (p.Met1Val)

SNV
Germline

Chr3:36993548

Pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome

Reviewed By Expert Panel

CA008127

rs_587778967

6 SubmittersRCV000075477 RCV000629832 RCV002415530 RCV003477467 RCV005031555

NM_000249.4(MLH1):c.2011G>T (p.Glu671Ter)

SNV
Germline/somatic

Chr3:37048925

Pathogenic

Lynch syndrome
Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA008195

rs_63750663

5 SubmittersRCV000075483 RCV001249947 RCV002415532 RCV003451094 RCV005089507

NM_000249.4(MLH1):c.2027T>C (p.Leu676Pro)

SNV
Germline

Chr3:37048941

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA008222

rs_63750242

5 SubmittersRCV000075485 RCV000216198 RCV000695668 RCV000987189 RCV000985781

NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)

SNV
Germline

Chr3:37048949

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008258

rs_587778971

6 SubmittersRCV000075489 RCV000507295 RCV000529563 RCV001014093 RCV001353532 RCV003451095

NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)

SNV
Germline

Chr3:37048952

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008266

rs_63750809

8 SubmittersRCV000075490 RCV000215088 RCV000791351 RCV001353998 RCV003451096

NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)

SNV
Germline

Chr3:37048952

Conflicting classifications of pathogenicity

Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008274

rs_63750809

14 SubmittersRCV000483931 RCV000411388 RCV000579550 RCV000684822 RCV002228179 RCV003997122

NM_000249.4(MLH1):c.203T>A (p.Ile68Asn)

SNV
Germline

Chr3:36996705

Likely pathogenic

Lynch syndrome
Condition: not provided

Reviewed By Expert Panel

CA008282

rs_63750281

2 SubmittersRCV000075492 RCV001269638

NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter)

SNV
Germline

Chr3:37048954

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008289

rs_63749867

6 SubmittersRCV000075493 RCV000524268 RCV000573665 RCV003451097

NM_000249.4(MLH1):c.2040C>T (p.Cys680=)

SNV
Germline/somatic

Chr3:37048954

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA008297

rs_63749867

9 SubmittersRCV000075494 RCV000541158 RCV000567661 RCV000662499 RCV001711130 RCV005357465

NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)

SNV
Germline

Chr3:37048962

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA008321

rs_587778972

7 SubmittersRCV000075497 RCV000589365 RCV001014231 RCV001355274 RCV001209526 RCV003451098 RCV005237504

NM_000249.4(MLH1):c.2051A>G (p.Tyr684Cys)

SNV
Germline

Chr3:37048965

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008329

rs_267607886

9 SubmittersRCV000478138 RCV000524271 RCV000562804 RCV000662677 RCV003997123

NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)

SNV
Germline

Chr3:37048973

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Lynch syndrome 1
Carcinoma of colon
MLH1-related disorder
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA008336

rs_63751275

25 SubmittersRCV000075499 RCV000215428 RCV000481137 RCV000411954 RCV000524272 RCV000763106 RCV001093679 RCV001356525 RCV003915039 RCV006449979

NM_000249.4(MLH1):c.207+1G>A

SNV
Germline

Chr3:36996710

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Thyroid cancer, nonmedullary, 1

Reviewed By Expert Panel

CA008419

rs_267607718

11 SubmittersRCV000075505 RCV000128866 RCV000202020 RCV000627707 RCV003451099 RCV005890442

NM_000249.4(MLH1):c.207+1G>T

SNV
Germline

Chr3:36996710

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008427

rs_267607718

4 SubmittersRCV000075506 RCV001854295 RCV002415534 RCV003455992

NM_000249.4(MLH1):c.207+2T>C

SNV
Germline

Chr3:36996711

Likely pathogenic

Lynch syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008435

rs_267607722

6 SubmittersRCV000075508 RCV000507560 RCV001000153 RCV001210840 RCV001014311 RCV003455993

NM_000249.4(MLH1):c.208-1G>A

SNV
Germline

Chr3:37000954

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Malignant tumor of urinary bladder

Reviewed By Expert Panel

CA008505

rs_267607717

5 SubmittersRCV000075514 RCV000629825 RCV002415535 RCV003451100 RCV005890443

NM_000249.4(MLH1):c.208-2A>G

SNV
Germline

Chr3:37000953

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008517

rs_267607716

3 SubmittersRCV000075516 RCV003137610 RCV002415536

NM_000249.4(MLH1):c.208-3C>G

SNV
Germline/somatic

Chr3:37000952

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008526

rs_267607720

8 SubmittersRCV000075517 RCV000160554 RCV000524274 RCV000562969 RCV000763098 RCV003451102

NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter)

SNV
Germline

Chr3:37048998

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA008537

rs_63749995

6 SubmittersRCV000075523 RCV001059462 RCV003455995 RCV002415537 RCV005055565

NM_000249.4(MLH1):c.2093C>G (p.Ser698Ter)

SNV
Germline

Chr3:37049007

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008574

rs_587778975

6 SubmittersRCV000075525 RCV000706709 RCV002415539 RCV003451103

NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter)

SNV
Germline

Chr3:37049015

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA008607

rs_63750114

7 SubmittersRCV000075528 RCV001854297 RCV003451104 RCV002415540 RCV003480053

NM_000249.4(MLH1):c.2103+1G>A

SNV
Germline

Chr3:37049018

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008626

rs_267607888

7 SubmittersRCV000075529 RCV000202158 RCV001380413 RCV002415541 RCV005600643

NM_000249.4(MLH1):c.2103+1G>C

SNV
Germline

Chr3:37049018

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA008633

rs_267607888

2 SubmittersRCV000075530 RCV001380414

NM_000249.4(MLH1):c.2103+1G>T

SNV
Germline

Chr3:37049018

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA008639

rs_267607888

5 SubmittersRCV000075531 RCV000446141 RCV000483619 RCV003593881

NM_000249.4(MLH1):c.2103G>C (p.Gln701His)

SNV
Germline

Chr3:37049017

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Reviewed By Expert Panel

CA008661

rs_63750603

8 SubmittersRCV000075534 RCV001093697 RCV000694604 RCV001014446 RCV001549279 RCV002288570 RCV003477468

NM_000249.4(MLH1):c.2104-1G>T

SNV
Germline

Chr3:37050485

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA008680

rs_587778978

1 SubmittersRCV000075537

NM_000249.4(MLH1):c.2104-2A>G

SNV
Germline

Chr3:37050484

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008707

rs_267607889

3 SubmittersRCV000075539 RCV001314807 RCV003451105

NM_000249.4(MLH1):c.2104-2A>T

SNV
Germline

Chr3:37050484

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008714

rs_267607889

3 SubmittersRCV000075540 RCV003451106 RCV002415543

NM_000249.4(MLH1):c.211G>T (p.Glu71Ter)

SNV
Germline

Chr3:37000958

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008784

rs_63749829

2 SubmittersRCV000075548 RCV002415545

NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter)

SNV
Germline

Chr3:37050517

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Reviewed By Expert Panel

CA008833

rs_63750561

12 SubmittersRCV000075550 RCV000202047 RCV000581002 RCV000686456 RCV001310200 RCV003451108 RCV005394315

NM_000249.4(MLH1):c.2136G>A (p.Trp712Ter)

SNV
Germline/somatic

Chr3:37050518

Pathogenic

Lynch syndrome
Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008842

rs_63750499

5 SubmittersRCV000075551 RCV001249996 RCV002415546 RCV004700376 RCV003451109

NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)

SNV
Germline

Chr3:37050523

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA008850

rs_63751022

11 SubmittersRCV000075553 RCV000144606 RCV000165669 RCV001044497 RCV002280100 RCV003451110 RCV005357468 RCV006277701

NM_000249.4(MLH1):c.2153A>C (p.His718Pro)

SNV
Germline

Chr3:37050535

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008900

rs_587778983

4 SubmittersRCV000075557 RCV000694232 RCV002247469 RCV006386751

NM_000249.4(MLH1):c.2159T>G (p.Val720Gly)

SNV
Germline

Chr3:37050541

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008948

rs_587778985

7 SubmittersRCV000162502 RCV000627729 RCV002288571 RCV003997124

NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys)

SNV
Germline

Chr3:37050544

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
MLH1-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008958

rs_587778986

13 SubmittersRCV000160544 RCV000212548 RCV000409675 RCV000524278 RCV000781540 RCV002483123 RCV003390768 RCV003997125

NM_000249.4(MLH1):c.2163T>A (p.Tyr721Ter)

SNV
Germline

Chr3:37050545

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA008969

rs_63750484

1 SubmittersRCV000075565

NM_000249.4(MLH1):c.2173C>T (p.Arg725Cys)

SNV
Germline

Chr3:37050555

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA009001

rs_138584384

9 SubmittersRCV000485816 RCV000627721 RCV000767193 RCV001014672 RCV003997126 RCV004566928

NM_000249.4(MLH1):c.2174G>A (p.Arg725His)

SNV
Germline

Chr3:37050556

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA009007

rs_566928243

17 SubmittersRCV000075568 RCV000115473 RCV000212549 RCV000586779 RCV000764498 RCV001079417 RCV001147135

NM_000249.4(MLH1):c.2194A>T (p.Lys732Ter)

SNV
Germline

Chr3:37050576

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009077

rs_267607906

6 SubmittersRCV000075573 RCV000558933 RCV000564805 RCV001353662 RCV003451115

NM_000249.4(MLH1):c.2210A>T (p.Asp737Val)

SNV
Germline

Chr3:37050592

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
MLH1-related disorder
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA009102

rs_267607885

8 SubmittersRCV000115474 RCV000563079 RCV000791373 RCV003894921 RCV003997127 RCV004566929

NM_000249.4(MLH1):c.2224C>T (p.Gln742Ter)

SNV
Germline

Chr3:37050606

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009163

rs_587778992

5 SubmittersRCV000075580 RCV000574085 RCV001040530 RCV003451117

NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro)

SNV
Germline

Chr3:37050628

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2
MLH1-related disorder
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA009197

rs_267607894

13 SubmittersRCV000075583 RCV000216146 RCV000478074 RCV000627694 RCV001355258 RCV001823108 RCV004724793 RCV005859493

NM_000249.4(MLH1):c.229T>C (p.Cys77Arg)

SNV
Germline

Chr3:37000976

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA009324

rs_63749859

5 SubmittersRCV000075596 RCV000220766 RCV001192575 RCV001358424 RCV001854300

NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)

SNV
Germline

Chr3:37000977

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA009334

rs_63750437

13 SubmittersRCV000075598 RCV000562335 RCV000791362 RCV001262551 RCV003477469 RCV006263655

NM_000249.4(MLH1):c.238T>G (p.Phe80Val)

SNV
Germline

Chr3:37000985

Likely pathogenic

Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009371

rs_63749990

4 SubmittersRCV000075601 RCV001091798 RCV001379075 RCV004019103

NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)

SNV
Germline

Chr3:37000991

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer
Condition: not provided

Reviewed By Expert Panel

CA009402

rs_587778998

16 SubmittersRCV000075602 RCV000166056 RCV000490565 RCV000506252 RCV000542720 RCV001353582 RCV002467439 RCV004782045 RCV004595910

NM_000249.4(MLH1):c.245C>T (p.Thr82Ile)

SNV
Germline

Chr3:37000992

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer
Condition: not provided

Reviewed By Expert Panel

CA009423

rs_63750005

8 SubmittersRCV000075604 RCV000222555 RCV000630024 RCV000659867 RCV001778703 RCV003477470

NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)

SNV
Germline

Chr3:37000997

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009442

rs_63750641

8 SubmittersRCV000075606 RCV001201354 RCV001353981 RCV001269582 RCV002433575 RCV003451121

NM_000249.4(MLH1):c.256C>T (p.Gln86Ter)

SNV
Germline

Chr3:37001003

Pathogenic

Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA009451

rs_63751421

7 SubmittersRCV000075607 RCV001529525 RCV003451122 RCV002453384 RCV002513802

NM_000249.4(MLH1):c.265G>T (p.Glu89Ter)

SNV
Germline

Chr3:37001012

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009474

rs_11541859

2 SubmittersRCV000075610 RCV003451123

NM_000249.4(MLH1):c.283T>G (p.Ser95Ala)

SNV
Germline

Chr3:37001030

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009506

rs_63751070

11 SubmittersRCV000115478 RCV000215988 RCV000409260 RCV000555517 RCV001030562 RCV004806051

NM_000249.4(MLH1):c.299G>C (p.Arg100Pro)

SNV
Germline

Chr3:37001046

Pathogenic

Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA009587

rs_63750266

6 SubmittersRCV000075619 RCV001532480 RCV001854301 RCV002291272 RCV002281909

NM_000249.4(MLH1):c.2T>A (p.Met1Lys)

SNV
Germline

Chr3:36993549

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009594

rs_111052004

2 SubmittersRCV000075620 RCV003362685

NM_000249.4(MLH1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr3:36993549

Pathogenic

Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009600

rs_111052004

5 SubmittersRCV000075621 RCV002288572 RCV001800370 RCV003593883 RCV002433577

NM_000249.4(MLH1):c.2T>G (p.Met1Arg)

SNV
Germline

Chr3:36993549

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009606

rs_111052004

2 SubmittersRCV000075622 RCV002433578

NM_000249.4(MLH1):c.301G>A (p.Gly101Ser)

SNV
Germline

Chr3:37001048

Likely pathogenic

Lynch syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009611

rs_267607726

6 SubmittersRCV000075623 RCV000486320 RCV000502831 RCV001211883 RCV003162483 RCV003451125

NM_000249.4(MLH1):c.302G>A (p.Gly101Asp)

SNV
Germline

Chr3:37001049

Likely pathogenic

Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA009617

rs_267607727

5 SubmittersRCV000075624 RCV000481030 RCV000568721 RCV003451126 RCV006461418

NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)

SNV
Germline

Chr3:37001051

Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009641

rs_63750453

11 SubmittersRCV000075627 RCV000216042 RCV000493419 RCV000501856 RCV000781538 RCV000807476 RCV001353830 RCV003451127

NM_000249.4(MLH1):c.306+1G>A

SNV
Germline

Chr3:37001054

Pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Gastric cancer
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009647

rs_267607734

6 SubmittersRCV000075628 RCV000544543 RCV002444531 RCV003162484 RCV003237436 RCV003451128

NM_000249.4(MLH1):c.306+5G>A

SNV
Germline

Chr3:37001058

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Condition: not provided
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA009684

rs_267607735

10 SubmittersRCV000022504 RCV000075634 RCV000202186 RCV000763099 RCV001018363 RCV001045822 RCV001804820

NM_000249.4(MLH1):c.306G>C (p.Glu102Asp)

SNV
Germline

Chr3:37001053

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009696

rs_63751665

5 SubmittersRCV000075636 RCV001048439 RCV002444532 RCV003451130

NM_000249.4(MLH1):c.307-1G>C

SNV
Germline

Chr3:37004400

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA009732

rs_267607736

5 SubmittersRCV000075641 RCV000478493 RCV002319436 RCV003451131 RCV006461419

NM_000249.4(MLH1):c.307-2A>C

SNV
Germline

Chr3:37004399

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009742

rs_267607732

3 SubmittersRCV000075644 RCV002514345 RCV003451132

NM_000249.4(MLH1):c.320T>G (p.Ile107Arg)

SNV
Germline

Chr3:37004414

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009787

rs_63750507

3 SubmittersRCV000075654 RCV000160517 RCV001019260

NM_000249.4(MLH1):c.332C>T (p.Ala111Val)

SNV
Germline

Chr3:37004426

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA009815

rs_63750539

6 SubmittersRCV000075658 RCV000627728 RCV001353512 RCV002321564 RCV003451134

NM_000249.4(MLH1):c.347C>A (p.Thr116Lys)

SNV
Germline

Chr3:37004441

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
not specified
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009850

rs_63750465

10 SubmittersRCV000115481 RCV000235173 RCV000410226 RCV000524292 RCV000780414 RCV000764481 RCV003997128

NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)

SNV
Germline

Chr3:37004444

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009864

rs_63750781

8 SubmittersRCV000075665 RCV000202256 RCV000622257 RCV000569088

NM_000249.4(MLH1):c.367A>T (p.Lys123Ter)

SNV
Germline

Chr3:37004461

Pathogenic

Lynch syndrome
Condition: not provided

Reviewed By Expert Panel

CA009925

rs_63750542

2 SubmittersRCV000075669 RCV002267837

NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn)

SNV
Germline

Chr3:37004470

Conflicting classifications of pathogenicity

Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA009965

rs_200076893

12 SubmittersRCV000217922 RCV000410157 RCV000524295 RCV000571582 RCV003149739 RCV003997129 RCV006273502

NM_000249.4(MLH1):c.378C>G (p.Tyr126Ter)

SNV
Germline

Chr3:37004472

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009980

rs_63751606

3 SubmittersRCV000075674 RCV001230876 RCV002345379

NM_000249.4(MLH1):c.37G>T (p.Glu13Ter)

SNV
Germline

Chr3:36993584

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010022

rs_587779008

4 SubmittersRCV000075677 RCV000162469 RCV000696247 RCV003451138

NM_000249.4(MLH1):c.380+1G>A

SNV
Germline/somatic

Chr3:37004475

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010040

rs_267607745

8 SubmittersRCV000075679 RCV000524296 RCV000486012 RCV001249909 RCV001021188 RCV001353869 RCV003451139

NM_000249.4(MLH1):c.380+2T>A

SNV
Germline

Chr3:37004476

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010049

rs_267607742

5 SubmittersRCV000075680 RCV001215653 RCV002354258 RCV003451140

NM_000249.4(MLH1):c.380+2T>C

SNV
Germline

Chr3:37004476

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA010057

rs_267607742

7 SubmittersRCV000075681 RCV001356725 RCV002354259 RCV003451141 RCV006461420

NM_000249.4(MLH1):c.380G>A (p.Arg127Lys)

SNV
Germline

Chr3:37004474

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010066

rs_63751595

5 SubmittersRCV000075682 RCV000221216 RCV000686990 RCV003451142

NM_000249.4(MLH1):c.381-2A>G

SNV
Germline

Chr3:37006989

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010087

rs_267607743

3 SubmittersRCV000075683 RCV001235385 RCV003451143

NM_000249.4(MLH1):c.382G>C (p.Ala128Pro)

SNV
Germline

Chr3:37006992

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA010150

rs_63750866

2 SubmittersRCV000075687 RCV005089510

NM_000249.4(MLH1):c.392C>A (p.Ser131Ter)

SNV
Germline

Chr3:37007002

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010223

rs_63749818

3 SubmittersRCV000075696 RCV003388572

NM_000249.4(MLH1):c.397G>T (p.Gly133Ter)

SNV
Germline

Chr3:37007007

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA010246

rs_63751124

3 SubmittersRCV000075698 RCV003451146 RCV003162485

NM_000249.4(MLH1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr3:36993550

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA010267

rs_72481822

6 SubmittersRCV000075700 RCV000215403 RCV000554881 RCV001354275 RCV001293607

NM_000249.4(MLH1):c.436C>T (p.Gln146Ter)

SNV
Germline

Chr3:37007046

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010388

rs_63749820

4 SubmittersRCV000075706 RCV000551153 RCV002326788 RCV004019104

NM_000249.4(MLH1):c.445C>T (p.Gln149Ter)

SNV
Germline

Chr3:37007055

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA010427

rs_63751302

3 SubmittersRCV000075708 RCV003451148 RCV003162486

NM_000249.4(MLH1):c.453+1G>T

SNV
Germline

Chr3:37007064

Likely pathogenic

Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA010483

rs_267607750

8 SubmittersRCV000075712 RCV000160522 RCV000576794 RCV000704046 RCV001022649

NM_000249.4(MLH1):c.453+2T>C

SNV
Germline

Chr3:37007065

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010498

rs_267607751

2 SubmittersRCV000075713 RCV003451149

NM_000249.4(MLH1):c.454-13A>G

SNV
Germline

Chr3:37008801

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2
Inherited MMR deficiency (Lynch syndrome)
Lynch syndrome 1

Reviewed By Expert Panel

CA010560

rs_267607749

14 SubmittersRCV000075719 RCV000480337 RCV000524301 RCV000565961 RCV001356457 RCV003452739 RCV005646854 RCV005861045

NM_000249.4(MLH1):c.454-1G>T

SNV
Germline

Chr3:37008813

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010579

rs_193922370

3 SubmittersRCV000075720 RCV002336223 RCV006454650

NM_000249.4(MLH1):c.454-2A>G

SNV
Germline

Chr3:37008812

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA010586

rs_267607753

3 SubmittersRCV000075721 RCV000218165 RCV001854302

NM_000249.4(MLH1):c.464T>G (p.Leu155Arg)

SNV
Germline

Chr3:37008824

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA010624

rs_63750891

4 SubmittersRCV000075730 RCV003452740 RCV004629149 RCV005089511

NM_000249.4(MLH1):c.479C>T (p.Ala160Val)

SNV
Germline

Chr3:37008839

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
MLH1-related disorder
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA010656

rs_63749924

11 SubmittersRCV000130760 RCV000524302 RCV000522486 RCV003997131 RCV004748558 RCV005420541 RCV005357473

NM_000249.4(MLH1):c.497T>A (p.Leu166Ter)

SNV
Germline

Chr3:37008857

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA010700

rs_267607755

1 SubmittersRCV000075735

NM_000249.4(MLH1):c.506C>T (p.Pro169Leu)

SNV
Germline

Chr3:37008866

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA010747

rs_63750834

6 SubmittersRCV000218502 RCV000524304 RCV003441740 RCV003997132 RCV004566930

NM_000249.4(MLH1):c.539T>G (p.Val180Gly)

SNV
Germline

Chr3:37008899

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA010855

rs_63750102

13 SubmittersRCV000131749 RCV000212519 RCV000411648 RCV000524305 RCV003320556 RCV003997133 RCV005031556

NM_000249.4(MLH1):c.544A>G (p.Arg182Gly)

SNV
Germline

Chr3:37008904

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA010872

rs_63750211

6 SubmittersRCV000075747 RCV000570187 RCV000684818 RCV001353413 RCV005646855

NM_000249.4(MLH1):c.545+1G>A

SNV
Germline

Chr3:37008906

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010895

rs_267607765

4 SubmittersRCV000075748 RCV002345381 RCV003153351 RCV003452744

NM_000249.4(MLH1):c.545+3A>G

SNV
Germline/somatic

Chr3:37008908

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Muir-Torré syndrome
Lynch syndrome 1
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA010914

rs_267607760

17 SubmittersRCV000075749 RCV000215515 RCV000564669 RCV000609647 RCV001202202 RCV001249949 RCV001804822 RCV005406805 RCV005357474 RCV005861046

NM_000249.4(MLH1):c.545G>A (p.Arg182Lys)

SNV
Germline

Chr3:37008905

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA010950

rs_587779021

5 SubmittersRCV000075753 RCV003452745 RCV001854303 RCV004943748

NM_000249.4(MLH1):c.546-1G>A

SNV
Germline

Chr3:37011819

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Reviewed By Expert Panel

CA010963

rs_587779022

7 SubmittersRCV000075754 RCV000482173 RCV001854304 RCV002271399 RCV003162487 RCV003452746 RCV005357475

NM_000249.4(MLH1):c.546-2A>C

SNV
Germline

Chr3:37011818

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010971

rs_267607759

2 SubmittersRCV000075755 RCV003452747

NM_000249.4(MLH1):c.546-2A>G

SNV
Germline

Chr3:37011818

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA010978

rs_267607759

9 SubmittersRCV000075756 RCV000202027 RCV000629970 RCV001024144 RCV003452748

NM_000249.4(MLH1):c.554T>G (p.Val185Gly)

SNV
Germline

Chr3:37011828

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011003

rs_63750515

5 SubmittersRCV000075761 RCV000218149 RCV001385098 RCV002345382 RCV003452749

NM_000249.4(MLH1):c.55A>T (p.Ile19Phe)

SNV
Germline

Chr3:36993602

Pathogenic

Carcinoma of colon
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA011026

rs_63750648

7 SubmittersRCV000075763 RCV000162610 RCV000483320 RCV000680175 RCV000791372 RCV005417453

NM_000249.4(MLH1):c.578C>G (p.Ser193Ter)

SNV
Germline

Chr3:37011852

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA011062

rs_63751480

5 SubmittersRCV000075767 RCV001854305 RCV003452750 RCV002354263 RCV003321498

NM_000249.4(MLH1):c.586A>T (p.Lys196Ter)

SNV
Germline

Chr3:37011860

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA011080

rs_63750500

1 SubmittersRCV000075768

NM_000249.4(MLH1):c.588+1G>T

SNV
Germline

Chr3:37011863

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011106

rs_267607772

5 SubmittersRCV000075769 RCV001176887 RCV001854306 RCV003452751

NM_000249.4(MLH1):c.588+2T>A

SNV
Germline

Chr3:37011864

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011113

rs_587779024

5 SubmittersRCV000075771 RCV000550590 RCV001024637 RCV003452752

NM_000249.4(MLH1):c.588+5G>A

SNV
Germline

Chr3:37011867

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Hereditary nonpolyposis colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011130

rs_267607768

10 SubmittersRCV000075774 RCV000213543 RCV000572458 RCV000627715 RCV000763100 RCV001255542 RCV003452753

NM_000249.4(MLH1):c.588+5G>C

SNV
Germline

Chr3:37011867

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA011137

rs_267607768

5 SubmittersRCV000075775 RCV001045347 RCV000987153 RCV002354265

NM_000249.4(MLH1):c.589-1G>T

SNV
Germline

Chr3:37012010

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011182

rs_587779027

6 SubmittersRCV000075779 RCV001070764 RCV002258789 RCV002483124 RCV003452754

NM_000249.4(MLH1):c.589-2A>G

SNV
Germline

Chr3:37012009

Pathogenic

Lynch syndrome 1
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA011189

rs_267607767

13 SubmittersRCV001804823 RCV000075780 RCV000160526 RCV000212522 RCV000576331 RCV000524306

NM_000249.4(MLH1):c.5C>A (p.Ser2Ter)

SNV
Germline

Chr3:36993552

Pathogenic

Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA011228

rs_587779029

4 SubmittersRCV000075784 RCV004998189 RCV003456001 RCV004943749

NM_000249.4(MLH1):c.62C>A (p.Ala21Glu)

SNV
Germline

Chr3:36993609

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA011283

rs_63750706

2 SubmittersRCV000075786 RCV000811318

NM_000249.4(MLH1):c.62C>T (p.Ala21Val)

SNV
Germline

Chr3:36993609

Pathogenic

Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Gastric cancer
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011295

rs_63750706

8 SubmittersRCV000075787 RCV001269890 RCV002362709 RCV003162488 RCV003452755

NM_000249.4(MLH1):c.644A>G (p.Asn215Ser)

SNV
Germline

Chr3:37012066

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA011342

rs_267607775

9 SubmittersRCV000508449 RCV000627731 RCV000771523 RCV003997136 RCV003993790 RCV004566931 RCV004721260

NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)

SNV
Germline

Chr3:37012071

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Lynch syndrome 1
Carcinoma of colon
MLH1-related disorder
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA011361

rs_4986984

17 SubmittersRCV000115483 RCV000212524 RCV000590255 RCV000987154 RCV001079587 RCV001030563 RCV001093666 RCV001354844 RCV003944989 RCV006449981

NM_000249.4(MLH1):c.677+1G>A

SNV
Germline

Chr3:37012100

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA011519

rs_267607778

6 SubmittersRCV000075802 RCV000533036 RCV000663323 RCV001183308

NM_000249.4(MLH1):c.677+1G>T

SNV
Germline

Chr3:37012100

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011528

rs_267607778

8 SubmittersRCV000075803 RCV000480845 RCV001034678 RCV001193208 RCV002362711 RCV003452758

NM_000249.4(MLH1):c.677+3A>G

SNV
Germline

Chr3:37012102

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA011545

rs_267607780

12 SubmittersRCV000075806 RCV000201996 RCV000222833 RCV000812851 RCV001353985 RCV003466960 RCV006605217

NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)

SNV
Germline/somatic

Chr3:37012099

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch-like syndrome
Gastric cancer
Endometrial carcinoma
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA011583

rs_63751711

23 SubmittersRCV000075809 RCV000132197 RCV000202049 RCV000410542 RCV000524312 RCV001093688 RCV001250009 RCV003162489 RCV003128139 RCV005406806

NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)

SNV
Germline/somatic

Chr3:37012099

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA011592

rs_63751711

17 SubmittersRCV000075810 RCV000160555 RCV000524313 RCV000709741 RCV000708610 RCV001249952 RCV006276063

NM_000249.4(MLH1):c.678-1G>C

SNV
Germline

Chr3:37014431

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA011606

rs_267607784

4 SubmittersRCV000075813 RCV002362712 RCV003452760 RCV003593888

NM_000249.4(MLH1):c.678-1G>T

SNV
Germline

Chr3:37014431

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA011615

rs_267607784

1 SubmittersRCV000075814

NM_000249.4(MLH1):c.678-2A>G

SNV
Germline

Chr3:37014430

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011623

rs_587779035

5 SubmittersRCV000075815 RCV000569823 RCV001380125 RCV003452761

NM_000249.4(MLH1):c.67G>T (p.Glu23Ter)

SNV
Germline

Chr3:36993614

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011669

rs_63750823

10 SubmittersRCV000075822 RCV000160551 RCV000772326 RCV000811317 RCV001290676 RCV001258081

NM_000249.4(MLH1):c.69A>T (p.Glu23Asp)

SNV
Germline

Chr3:36993616

Conflicting classifications of pathogenicity

Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011736

rs_63750555

5 SubmittersRCV000411283 RCV001025892 RCV001236964 RCV003997137

NM_000249.4(MLH1):c.731G>A (p.Gly244Asp)

SNV
Germline

Chr3:37014485

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA011836

rs_63750303

8 SubmittersRCV000075830 RCV000573119 RCV001210008 RCV001354491 RCV001804824 RCV003466961

NM_000249.4(MLH1):c.731G>T (p.Gly244Val)

SNV
Germline/somatic

Chr3:37014485

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA011845

rs_63750303

5 SubmittersRCV000075831 RCV000536939 RCV002381380 RCV003452764

NM_000249.4(MLH1):c.739T>C (p.Ser247Pro)

SNV
Germline

Chr3:37014493

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA011855

rs_63750948

4 SubmittersRCV000075833 RCV000629770 RCV001183309

NM_000249.4(MLH1):c.73A>T (p.Ile25Phe)

SNV
Germline

Chr3:36993620

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA011880

rs_63749838

1 SubmittersRCV000075834

NM_000249.4(MLH1):c.76C>T (p.Gln26Ter)

SNV
Germline

Chr3:36993623

Pathogenic

Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA011979

rs_63749827

10 SubmittersRCV000075838 RCV000520796 RCV001258082 RCV001854309 RCV002399450

NM_000249.4(MLH1):c.778C>T (p.Leu260Phe)

SNV
Germline

Chr3:37014532

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012012

rs_63750642

9 SubmittersRCV000130511 RCV000479043 RCV000705556 RCV004806052 RCV005364964 RCV004566932 RCV004786356

NM_000249.4(MLH1):c.779T>G (p.Leu260Arg)

SNV
Germline

Chr3:37014533

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA012020

rs_63751283

4 SubmittersRCV000075841 RCV001183310

NM_000249.4(MLH1):c.790+1G>A

SNV
Germline/somatic

Chr3:37014545

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Lynch syndrome 1
Colonic neoplasm
Endometrial carcinoma
Colorectal cancer, hereditary nonpolyposis, type 2
Glioma susceptibility 1

Reviewed By Expert Panel

CA012109

rs_267607789

20 SubmittersRCV000075847 RCV000214767 RCV000524316 RCV000562275 RCV001249934 RCV001310196 RCV001646997 RCV003128140 RCV003452766 RCV005890449

NM_000249.4(MLH1):c.790+1G>C

SNV
Germline

Chr3:37014545

Likely pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012117

rs_267607789

2 SubmittersRCV000075848 RCV003452767

NM_000249.4(MLH1):c.790+2T>A

SNV
Germline

Chr3:37014546

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012153

rs_267607790

5 SubmittersRCV000075850 RCV001026933 RCV001382874 RCV002291498

NM_000249.4(MLH1):c.790+2T>C

SNV
Germline

Chr3:37014546

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012162

rs_267607790

6 SubmittersRCV000075851 RCV000812444 RCV001353965 RCV002415547 RCV003452768

NM_000249.4(MLH1):c.790+3A>T

SNV
Germline/somatic

Chr3:37014547

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA012172

rs_267607792

2 SubmittersRCV000075853 RCV002415548

NM_000249.4(MLH1):c.790+5G>T

SNV
Germline

Chr3:37014549

Pathogenic

Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012201

rs_267607771

2 SubmittersRCV000075855 RCV003452770

NM_000249.4(MLH1):c.790C>T (p.His264Tyr)

SNV
Germline

Chr3:37014544

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary breast ovarian cancer syndrome
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA012242

rs_63751597

11 SubmittersRCV000478542 RCV000530665 RCV000562121 RCV001093687 RCV001193965 RCV003485534 RCV003997138 RCV003483463 RCV004748559

NM_000249.4(MLH1):c.791-1G>C

SNV
Germline

Chr3:37017505

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Malignant tumor of urinary bladder

Reviewed By Expert Panel

CA012277

rs_267607795

8 SubmittersRCV000075860 RCV001388082 RCV001183311 RCV002247470 RCV001723644 RCV003452771 RCV005890450

NM_000249.4(MLH1):c.791-1G>T

SNV
Germline

Chr3:37017505

Likely pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012290

rs_267607795

2 SubmittersRCV000075861 RCV003452772

NM_000249.4(MLH1):c.791-2A>G

SNV
Germline

Chr3:37017504

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012308

rs_267607794

10 SubmittersRCV000075863 RCV000115486 RCV000212525 RCV000543128 RCV003452773

NM_000249.4(MLH1):c.791-5T>G

SNV
Germline

Chr3:37017501

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Reviewed By Expert Panel

CA012320

rs_267607788

7 SubmittersRCV000075865 RCV000579445 RCV001379645 RCV001262553 RCV002512058

NM_000249.4(MLH1):c.791-7T>A

SNV
Germline

Chr3:37017499

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA012354

rs_587779042

1 SubmittersRCV000075866

NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)

SNV
Germline/somatic

Chr3:37017508

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA012384

rs_63751194

10 SubmittersRCV000075871 RCV000202126 RCV000567864 RCV001249943 RCV001070683 RCV001353449 RCV003452775 RCV005237505

NM_000249.4(MLH1):c.83C>T (p.Pro28Leu)

SNV
Germline

Chr3:36993630

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
MLH1-related disorder

Reviewed By Expert Panel

CA012549

rs_63750792

8 SubmittersRCV000075881 RCV000160552 RCV001380943 RCV001800371 RCV004748561

NM_000249.4(MLH1):c.840T>A (p.Tyr280Ter)

SNV
Germline

Chr3:37017555

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA012563

rs_63750938

1 SubmittersRCV000075882

NM_000249.4(MLH1):c.842C>T (p.Ala281Val)

SNV
Germline

Chr3:37017557

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA012571

rs_63749950

3 SubmittersRCV000075883 RCV001854310 RCV002444533

NM_000249.4(MLH1):c.851T>A (p.Leu284Ter)

SNV
Germline

Chr3:37017566

Pathogenic

Lynch syndrome
Condition: not provided

Reviewed By Expert Panel

CA012616

rs_63750889

2 SubmittersRCV000075886 RCV006255326

NM_000249.4(MLH1):c.86C>G (p.Ala29Gly)

SNV
Germline

Chr3:36993633

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012745

rs_63750216

5 SubmittersRCV000075896 RCV000218998 RCV001284650 RCV003593891 RCV003452780

NM_000249.4(MLH1):c.875T>C (p.Leu292Pro)

SNV
Germline

Chr3:37017590

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA012754

rs_63750517

4 SubmittersRCV000630228 RCV002371909 RCV003235034 RCV005625266

NM_000249.4(MLH1):c.882C>G (p.Leu294=)

SNV
Germline

Chr3:37017597

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012774

rs_63751707

4 SubmittersRCV000776334 RCV001854311 RCV004806053

NM_000249.4(MLH1):c.882C>T (p.Leu294=)

SNV
Germline

Chr3:37017597

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer
Lung cancer

Reviewed By Expert Panel

CA012784

rs_63751707

8 SubmittersRCV000075900 RCV000574927 RCV000759814 RCV000818945 RCV003452781 RCV004562243 RCV005890452

NM_000249.4(MLH1):c.883A>C (p.Ser295Arg)

SNV
Germline

Chr3:37017598

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Hereditary cancer-predisposing syndrome
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA012793

rs_63751598

6 SubmittersRCV000075901 RCV001046252 RCV001353502 RCV002371910 RCV005055065

NM_000249.4(MLH1):c.883A>G (p.Ser295Gly)

SNV
Germline

Chr3:37017598

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012803

rs_63751598

6 SubmittersRCV000075902 RCV000561374 RCV001353633 RCV003593892 RCV003452782

NM_000249.4(MLH1):c.884+2T>C

SNV
Germline

Chr3:37017601

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA012829

rs_267607806

1 SubmittersRCV000075904

NM_000249.4(MLH1):c.884+4A>G

SNV
Germline

Chr3:37017603

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012852

rs_267607777

8 SubmittersRCV000075907 RCV000630077 RCV001018387 RCV001582561 RCV003452783

NM_000249.4(MLH1):c.884G>A (p.Ser295Asn)

SNV
Germline

Chr3:37017599

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012866

rs_63750144

5 SubmittersRCV000075908 RCV000215143 RCV001220885 RCV003452784

NM_000249.4(MLH1):c.885-2A>G

SNV
Germline

Chr3:37020308

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Reviewed By Expert Panel

CA012922

rs_267607805

10 SubmittersRCV000075914 RCV000132040 RCV000481722 RCV000627716 RCV003452786 RCV005357478

NM_000249.4(MLH1):c.887T>G (p.Leu296Ter)

SNV
Germline

Chr3:37020312

Pathogenic

Lynch syndrome
Condition: not provided
Colon cancer
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012965

rs_63750547

6 SubmittersRCV000075923 RCV000484245 RCV000677881 RCV000820731 RCV003362686 RCV003452787

NM_000249.4(MLH1):c.889G>T (p.Glu297Ter)

SNV
Germline

Chr3:37020314

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA012996

rs_63750736

3 SubmittersRCV000075927 RCV002371911

NM_000249.4(MLH1):c.901C>T (p.Gln301Ter)

SNV
Germline/somatic

Chr3:37020326

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
See cases
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA013005

rs_63750489

8 SubmittersRCV000075928 RCV001223223 RCV001701489 RCV002287363 RCV002371912 RCV003452788

NM_000249.4(MLH1):c.911A>T (p.Asp304Val)

SNV
Germline/somatic

Chr3:37020336

Likely pathogenic

Lynch syndrome
Lynch-like syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA013044

rs_63750993

3 SubmittersRCV000075932 RCV001250011 RCV003452789

NM_000249.4(MLH1):c.918T>A (p.Asn306Lys)

SNV
Germline

Chr3:37020343

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA013067

rs_587779054

4 SubmittersRCV000075934 RCV000529157 RCV001523813 RCV004019106

NM_000249.4(MLH1):c.925C>T (p.Pro309Ser)

SNV
Germline

Chr3:37020350

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA013121

rs_267607808

11 SubmittersRCV000486267 RCV000574268 RCV000684787 RCV003325180 RCV003997139 RCV004799779

NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)

SNV
Germline

Chr3:37020380

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Malignant tumor of breast
Hereditary cancer
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA013293

rs_63750796

22 SubmittersRCV000075945 RCV000115489 RCV000144597 RCV000212528 RCV000410221 RCV000524325 RCV000764484 RCV000656859 RCV001357697 RCV003492419 RCV003915040

NM_000249.4(MLH1):c.955G>T (p.Glu319Ter)

SNV
Germline

Chr3:37020380

Pathogenic

Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA013306

rs_63750796

6 SubmittersRCV000075946 RCV000578913 RCV000656559 RCV001019484 RCV001034666

NM_000249.4(MLH1):c.982C>T (p.Gln328Ter)

SNV
Germline

Chr3:37020407

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA013430

rs_587779058

5 SubmittersRCV000075952 RCV000166394 RCV001383394 RCV003452792

NM_000251.3(MSH2):c.-225G>C

SNV
Germline

Chr2:47402967

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Familial cancer of breast
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA021836

rs_138068023

6 SubmittersRCV000165718 RCV000409105 RCV002055083 RCV001567568 RCV005357479 RCV004734625

NM_000251.3(MSH2):c.1000A>T (p.Lys334Ter)

SNV
Germline

Chr2:47416353

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA016794

rs_587779063

3 SubmittersRCV000075993 RCV002321565 RCV005089513

NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter)

SNV
Germline

Chr2:47416362

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
MSH2-related disorder
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA016831

rs_63750778

9 SubmittersRCV000075997 RCV000153512 RCV000215536 RCV001215910 RCV003452794 RCV004537286 RCV005357480 RCV006277702

NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)

SNV
Germline

Chr2:47416365

Pathogenic/Likely pathogenic

Carcinoma of colon
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA016843

rs_63751004

5 SubmittersRCV000500876 RCV003452795 RCV002345383 RCV002228181

NM_000251.3(MSH2):c.1013G>A (p.Gly338Glu)

SNV
Germline/somatic

Chr2:47416366

Pathogenic

Lynch syndrome
Lynch-like syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA016852

rs_587779065

3 SubmittersRCV000075999 RCV001250033 RCV002354266

NM_000251.3(MSH2):c.1022T>C (p.Leu341Pro)

SNV
Germline

Chr2:47416375

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA016875

rs_63751147

2 SubmittersRCV000076002 RCV001213427

NM_000251.3(MSH2):c.1034G>A (p.Trp345Ter)

SNV
Germline/somatic

Chr2:47416387

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA016934

rs_63751027

6 SubmittersRCV000076004 RCV000691659 RCV001250028 RCV002390221 RCV003452796

NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter)

SNV
Germline

Chr2:47416388

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA016940

rs_63750396

9 SubmittersRCV000076005 RCV000202230 RCV000492045 RCV001258035 RCV001193248 RCV001854313

NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)

SNV
Germline/somatic

Chr2:47416398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Condition: not provided
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary nonpolyposis colon cancer
Hereditary breast ovarian cancer syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016975

rs_267607939

19 SubmittersRCV000128932 RCV000148635 RCV000588936 RCV000764423 RCV000986664 RCV001085377 RCV001844030 RCV002279934 RCV004760366 RCV005357481

NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg)

SNV
Germline

Chr2:47416399

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Reviewed By Expert Panel

CA016981

rs_587779067

8 SubmittersRCV000076008 RCV000490568 RCV002399451 RCV005629486 RCV004998190

NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu)

SNV
Germline

Chr2:47416399

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA016990

rs_587779067

6 SubmittersRCV000076009 RCV000217955 RCV000508278 RCV000694503 RCV003452797

NM_000251.3(MSH2):c.1069G>C (p.Glu357Gln)

SNV
Germline

Chr2:47416422

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA017022

rs_587779069

3 SubmittersRCV000629705 RCV002408591 RCV003460713

NM_000251.3(MSH2):c.1075A>T (p.Arg359Ter)

SNV
Germline

Chr2:47416428

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA017051

rs_587779070

1 SubmittersRCV000076012

NM_000251.3(MSH2):c.1076+1G>A

SNV
Germline

Chr2:47416430

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Reviewed By Expert Panel

CA017072

rs_267607940

11 SubmittersRCV000076014 RCV000132414 RCV000485147 RCV000541273 RCV000763489 RCV003452798 RCV005364966

NM_000251.3(MSH2):c.1076+1G>T

SNV
Germline/somatic

Chr2:47416430

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA017079

rs_267607940

5 SubmittersRCV000076015 RCV000491884 RCV003593893 RCV003452799

NM_000251.3(MSH2):c.1077-1G>C

SNV
Germline

Chr2:47429741

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA017136

rs_267607944

8 SubmittersRCV000076019 RCV000491682 RCV001284005 RCV003452800

NM_000251.3(MSH2):c.1077-1G>T

SNV
Germline/somatic

Chr2:47429741

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA017143

rs_267607944

4 SubmittersRCV000076020 RCV001009855 RCV003452801

NM_000251.3(MSH2):c.1077-2A>C

SNV
Germline

Chr2:47429740

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified

Reviewed By Expert Panel

CA017167

rs_267607943

6 SubmittersRCV000076023 RCV000491115 RCV001207225 RCV001800372

NM_000251.3(MSH2):c.1077-2A>G

SNV
Germline

Chr2:47429740

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
MSH2-related disorder

Reviewed By Expert Panel

CA017174

rs_267607943

6 SubmittersRCV000076024 RCV000491149 RCV000529751 RCV001811351 RCV003452802 RCV004724794

NM_000251.3(MSH2):c.1077-2A>T

SNV
Germline

Chr2:47429740

Likely pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA017180

rs_267607943

4 SubmittersRCV000076025 RCV003452803 RCV002415552 RCV003593894

NM_000251.3(MSH2):c.1077A>T (p.Arg359Ser)

SNV
Germline

Chr2:47429742

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA017208

rs_63751617

3 SubmittersRCV000076034 RCV001230748 RCV002415553

NM_000251.3(MSH2):c.1082A>G (p.Asn361Ser)

SNV
Germline

Chr2:47429747

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017221

rs_587779072

4 SubmittersRCV000629732 RCV000574719 RCV003997140

NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter)

SNV
Germline

Chr2:47429785

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA017272

rs_63750558

8 SubmittersRCV000076043 RCV000162405 RCV001385293 RCV002272052 RCV001800373

NM_000251.3(MSH2):c.1129C>T (p.Gln377Ter)

SNV
Germline

Chr2:47429794

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA017309

rs_63750267

6 SubmittersRCV000076045 RCV000583364 RCV001232220 RCV003452804

NM_000251.3(MSH2):c.1145G>A (p.Arg382His)

SNV
Germline

Chr2:47429810

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Lynch syndrome
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA017350

rs_267607947

10 SubmittersRCV000487066 RCV000568561 RCV000663061 RCV000703497 RCV003149744 RCV003997141 RCV006439626

NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)

SNV
Germline/somatic

Chr2:47429812

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Rhabdomyosarcoma
Hereditary nonpolyposis colon cancer
Lynch-like syndrome
MSH2-related disorder
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA017356

rs_63749849

25 SubmittersRCV000076049 RCV000202261 RCV000221364 RCV000524330 RCV000576748 RCV000763490 RCV001257542 RCV001192613 RCV001249954 RCV004537287 RCV005237507

NM_000251.3(MSH2):c.114C>G (p.Asp38Glu)

SNV
Germline

Chr2:47403305

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017363

rs_587779074

10 SubmittersRCV000164456 RCV000524331 RCV000662913 RCV000780454 RCV001564699

NM_000251.3(MSH2):c.1154C>T (p.Pro385Leu)

SNV
Germline

Chr2:47429819

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA017372

rs_564736113

6 SubmittersRCV000794953 RCV001010013 RCV001538801 RCV003997142 RCV005600644

NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)

SNV
Germline

Chr2:47429830

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Mismatch repair cancer syndrome 1
Mismatch repair cancer syndrome 2
Gastric cancer
MSH2-related disorder

Reviewed By Expert Panel

CA017391

rs_587779075

27 SubmittersRCV000076052 RCV000115494 RCV000202008 RCV000409481 RCV000524332 RCV001353542 RCV001332303 RCV002255278 RCV003162491 RCV004734626

NM_000251.3(MSH2):c.1183C>T (p.Gln395Ter)

SNV
Germline

Chr2:47429848

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA017425

rs_63750302

3 SubmittersRCV000076054 RCV002326789 RCV002514347

NM_000251.3(MSH2):c.1189C>T (p.Gln397Ter)

SNV
Germline

Chr2:47429854

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA017437

rs_63750611

6 SubmittersRCV000076055 RCV001353639 RCV001385673 RCV002336224 RCV003452805

NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)

SNV
Germline

Chr2:47403309

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary breast ovarian cancer syndrome
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA017443

rs_63751260

9 SubmittersRCV000236371 RCV000491838 RCV000627704 RCV000781559 RCV001030704 RCV003466962 RCV003997143 RCV004528275

NM_000251.3(MSH2):c.1204C>T (p.Gln402Ter)

SNV
Germline

Chr2:47429869

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA017497

rs_63751412

5 SubmittersRCV000076061 RCV000490977 RCV001071140 RCV003452807 RCV002469004

NM_000251.3(MSH2):c.1215C>A (p.Tyr405Ter)

SNV
Germline

Chr2:47429880

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome

Reviewed By Expert Panel

CA017512

rs_63751271

4 SubmittersRCV000076063 RCV002354267 RCV005364967

NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)

SNV
Germline

Chr2:47429882

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 1
not specified
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA017527

rs_146567853

14 SubmittersRCV000132166 RCV000212599 RCV000411777 RCV000765665 RCV000781558 RCV001083003 RCV001356152 RCV001798264

NM_000251.3(MSH2):c.1223A>G (p.Tyr408Cys)

SNV
Germline

Chr2:47429888

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017564

rs_63750379

9 SubmittersRCV000076070 RCV000571404 RCV000590753 RCV001253505 RCV003466963 RCV003997144

NM_000251.3(MSH2):c.1255C>T (p.Gln419Ter)

SNV
Germline

Chr2:47429920

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA017677

rs_63750006

8 SubmittersRCV000076080 RCV000202277 RCV001010574 RCV001383405 RCV003452812

NM_000251.3(MSH2):c.1264G>T (p.Glu422Ter)

SNV
Germline

Chr2:47429929

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA017696

rs_63751712

3 SubmittersRCV000076083 RCV002408592 RCV003452813

NM_000251.3(MSH2):c.1275A>G (p.Glu425=)

SNV
Germline

Chr2:47429940

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Polyp of colon
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
MSH2-related disorder
Lynch syndrome 1
Inherited ovarian cancer (without breast cancer)
Cervical cancer

Criteria Provided
Conflicting Classifications

CA017727

rs_63751650

19 SubmittersRCV000115500 RCV000202073 RCV000487506 RCV000735971 RCV001082316 RCV001357605 RCV004537288 RCV004799181 RCV006436425 RCV005890453

NM_000251.3(MSH2):c.1276+1G>A

SNV
Germline/somatic

Chr2:47429942

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Carcinoma of colon
Lynch-like syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Reviewed By Expert Panel

CA017744

rs_267607950

15 SubmittersRCV000076086 RCV000491508 RCV000548164 RCV000786795 RCV001353592 RCV001250019 RCV002469005 RCV002272053

NM_000251.3(MSH2):c.1276+1G>C

SNV
Germline

Chr2:47429942

Likely pathogenic

Lynch syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA017751

rs_267607950

2 SubmittersRCV000076087 RCV003452815

NM_000251.3(MSH2):c.1276+1G>T

SNV
Germline

Chr2:47429942

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA017756

rs_267607950

9 SubmittersRCV000076088 RCV000491760 RCV000707663 RCV003237437 RCV002498365 RCV003452816 RCV004700380

NM_000251.3(MSH2):c.1276+2T>A

SNV
Germline

Chr2:47429943

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA017764

rs_267607953

1 SubmittersRCV000076091

NM_000251.3(MSH2):c.1277-1G>A

SNV
Germline/somatic

Chr2:47445547

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA017815

rs_267607948

5 SubmittersRCV000076097 RCV002371915 RCV005031557 RCV003452817

NM_000251.3(MSH2):c.1277-1G>C

SNV
Germline

Chr2:47445547

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA017821

rs_267607948

3 SubmittersRCV000076098 RCV001010704 RCV003452818

NM_000251.3(MSH2):c.1277-2A>C

SNV
Germline

Chr2:47445546

Likely pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA017836

rs_267607949

4 SubmittersRCV000076100 RCV003452819 RCV002371916 RCV005089514

NM_000251.3(MSH2):c.1277-2A>G

SNV
Germline/somatic

Chr2:47445546

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Gastric cancer
Lynch syndrome 1

Reviewed By Expert Panel

CA017843

rs_267607949

5 SubmittersRCV000076101 RCV000566772 RCV001249916 RCV003162492 RCV003452820

NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter)

SNV
Germline

Chr2:47445556

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA017883

rs_63751693

10 SubmittersRCV000076112 RCV000214917 RCV000627701 RCV001353690 RCV001823109

NM_000251.3(MSH2):c.1288A>T (p.Lys430Ter)

SNV
Germline

Chr2:47445559

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA017899

rs_63751646

2 SubmittersRCV000076114 RCV001260434

NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)

SNV
Germline

Chr2:47403319

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Condition: not provided
Sarcoma
Lynch syndrome
Muir-Torré syndrome
MSH2-related disorder
Hereditary cancer
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA017905

rs_17217723

20 SubmittersRCV000131211 RCV000212578 RCV000409784 RCV000524339 RCV000764419 RCV000656872 RCV001262887 RCV003330424 RCV004537289 RCV004700381 RCV005394319

NM_000251.3(MSH2):c.1292T>A (p.Leu431Ter)

SNV
Germline

Chr2:47445563

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA017911

rs_63751315

2 SubmittersRCV000076116 RCV002381383

NM_000251.3(MSH2):c.129T>G (p.Tyr43Ter)

SNV
Germline

Chr2:47403320

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA017923

rs_63750894

1 SubmittersRCV000076117

NM_000251.3(MSH2):c.1319T>C (p.Leu440Pro)

SNV
Germline

Chr2:47445590

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA017968

rs_587779084

4 SubmittersRCV000076121 RCV000491100 RCV002514349

NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro)

SNV
Germline

Chr2:47445592

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Lynch syndrome
Breast and/or ovarian cancer
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA018000

rs_587779086

18 SubmittersRCV000478413 RCV000524340 RCV000446874 RCV001001300 RCV001143792 RCV003997145 RCV003492421 RCV004734628

NM_000251.3(MSH2):c.1345A>T (p.Lys449Ter)

SNV
Germline

Chr2:47445616

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA018043

rs_63749920

4 SubmittersRCV000076128 RCV001383406 RCV002381386 RCV003452823

NM_000251.3(MSH2):c.1354G>T (p.Glu452Ter)

SNV
Germline

Chr2:47445625

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA018073

rs_267607954

5 SubmittersRCV000076132 RCV000573345 RCV000791561 RCV003452825

NM_000251.3(MSH2):c.1358T>A (p.Met453Lys)

SNV
Germline

Chr2:47445629

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA018085

rs_63750697

1 SubmittersRCV000076134

NM_000251.3(MSH2):c.1373T>G (p.Leu458Ter)

SNV
Germline

Chr2:47445644

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA018102

rs_63750521

5 SubmittersRCV000076136 RCV000160582 RCV002381387 RCV003452827

NM_000251.3(MSH2):c.1386+1G>A

SNV
Germline

Chr2:47445658

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal carcinoma
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA018130

rs_267607957

9 SubmittersRCV000076137 RCV000491969 RCV000684786 RCV001268971 RCV001789614 RCV003452828 RCV004696688

NM_000251.3(MSH2):c.1386+1G>C

SNV
Germline

Chr2:47445658

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA018136

rs_267607957

2 SubmittersRCV000076138 RCV002390222

NM_000251.3(MSH2):c.1386+1G>T

SNV
Germline

Chr2:47445658

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome

Reviewed By Expert Panel

CA018142

rs_267607957

8 SubmittersRCV000076139 RCV001723646 RCV002390223 RCV003452829 RCV002514350 RCV004796004

NM_000251.3(MSH2):c.1387-1G>T

SNV
Germline

Chr2:47463030

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA018168

rs_267607956

1 SubmittersRCV000076141

NM_000251.3(MSH2):c.1387-9T>A

SNV
Germline

Chr2:47463022

Pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA018205

rs_587779087

3 SubmittersRCV000076144 RCV000509472

NM_000251.3(MSH2):c.1399G>T (p.Glu467Ter)

SNV
Germline

Chr2:47463043

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA018225

rs_587779089

4 SubmittersRCV000076152 RCV001355815 RCV001011383 RCV003452830

NM_000251.3(MSH2):c.1418C>G (p.Ser473Ter)

SNV
Germline

Chr2:47463062

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA018248

rs_63751403

4 SubmittersRCV000076155 RCV002390224 RCV003452832

NM_000251.3(MSH2):c.1418C>T (p.Ser473Leu)

SNV
Germline

Chr2:47463062

Conflicting classifications of pathogenicity

Colorectal cancer, non-polyposis
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA018254

rs_63751403

9 SubmittersRCV000148630 RCV000218562 RCV000482094 RCV000627720 RCV003997147 RCV003466964

NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)

SNV
Germline

Chr2:47403333

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Carcinoma of colon

Reviewed By Expert Panel

CA018272

rs_63750615

10 SubmittersRCV000076158 RCV000537461 RCV000506167 RCV000582377 RCV000662482 RCV001011543 RCV001354006

NM_000251.3(MSH2):c.1444A>T (p.Arg482Ter)

SNV
Germline

Chr2:47463088

Pathogenic

Lynch syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA018301

rs_587779092

3 SubmittersRCV000076160 RCV003452833

NM_000251.3(MSH2):c.1447G>T (p.Glu483Ter)

SNV
Germline

Chr2:47463091

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
MSH2-related disorder

Reviewed By Expert Panel

CA018326

rs_63749947

7 SubmittersRCV000076164 RCV001064013 RCV001269568 RCV002390225 RCV004797777

NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)

SNV
Germline

Chr2:47463105

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Breast and/or ovarian cancer
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA018356

rs_35107951

16 SubmittersRCV000076170 RCV000131869 RCV000411837 RCV000524343 RCV000590052 RCV001797621 RCV001798266 RCV004734629

NM_000251.3(MSH2):c.146A>T (p.Asp49Val)

SNV
Germline

Chr2:47403337

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018373

rs_63750335

11 SubmittersRCV000160615 RCV000221403 RCV000684812 RCV000662586 RCV002267841 RCV003997148

NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter)

SNV
Germline

Chr2:47463121

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Carcinoma of colon
Lynch syndrome 1

Reviewed By Expert Panel

CA018386

rs_63750936

9 SubmittersRCV000076173 RCV000129104 RCV000630148 RCV000759818 RCV001356325 RCV003452836

NM_000251.3(MSH2):c.1487T>A (p.Leu496Ter)

SNV
Germline

Chr2:47463131

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA018422

rs_587779093

1 SubmittersRCV000076174

NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)

SNV
Germline

Chr2:47403205

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary nonpolyposis colon cancer
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA018457

rs_56170584

16 SubmittersRCV000076178 RCV000165088 RCV000486935 RCV000412350 RCV000524345 RCV000781557 RCV001030703 RCV001354505 RCV002513806 RCV003153355

NM_000251.3(MSH2):c.1508T>C (p.Leu503Pro)

SNV
Germline

Chr2:47463152

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA018480

rs_587779095

2 SubmittersRCV000580795 RCV003452837

NM_000251.3(MSH2):c.1511-2A>G

SNV
Germline

Chr2:47466656

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA018508

rs_267607962

9 SubmittersRCV000076184 RCV000491325 RCV000583875 RCV001388415 RCV003452838

NM_000251.3(MSH2):c.1528C>T (p.Gln510Ter)

SNV
Germline

Chr2:47466675

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA018553

rs_587779097

4 SubmittersRCV000076189 RCV002228182 RCV002390227 RCV003452839

NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile)

SNV
Germline

Chr2:47466694

Conflicting classifications of pathogenicity

Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA018578

rs_373564353

12 SubmittersRCV000409878 RCV000485690 RCV000524347 RCV001012071 RCV001553592 RCV003997149 RCV005364969 RCV004764761

NM_000251.3(MSH2):c.1552C>T (p.Gln518Ter)

SNV
Germline

Chr2:47466699

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA018597

rs_63750780

9 SubmittersRCV000076192 RCV000657577 RCV000701635 RCV001187045 RCV003452840

NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)

SNV
Germline

Chr2:47466710

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Hereditary nonpolyposis colon cancer
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018611

rs_63750330

17 SubmittersRCV000126814 RCV000212604 RCV000409514 RCV000524348 RCV001092632 RCV001354893 RCV003323289 RCV003149746 RCV003997150

NM_000251.3(MSH2):c.1566C>G (p.Tyr522Ter)

SNV
Germline

Chr2:47466713

Pathogenic

Lynch syndrome
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA018620

rs_63750224

6 SubmittersRCV000076195 RCV001357508 RCV001388417 RCV001823110 RCV002399452

NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys)

SNV
Germline/somatic

Chr2:47466747

Conflicting classifications of pathogenicity

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA018706

rs_63750029

12 SubmittersRCV000076204 RCV000410514 RCV000491263 RCV000524349 RCV000588411 RCV001175346 RCV005031558

NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser)

SNV
Germline

Chr2:47466787

Conflicting classifications of pathogenicity

Lynch syndrome 1
not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018784

rs_267607967

8 SubmittersRCV000411811 RCV000506572 RCV000697749 RCV001191249 RCV001800374

NM_000251.3(MSH2):c.1642G>T (p.Gly548Cys)

SNV
Germline

Chr2:47466789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018790

rs_63750538

8 SubmittersRCV000490983 RCV000479671 RCV000524350 RCV003317077 RCV003466965 RCV003997151

NM_000251.3(MSH2):c.1654A>C (p.Thr552Pro)

SNV
Germline

Chr2:47466801

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA018802

rs_63750838

3 SubmittersRCV000213657 RCV003452845 RCV002514351

NM_000251.3(MSH2):c.1660A>C (p.Ser554Arg)

SNV
Germline

Chr2:47466807

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA018807

rs_63751656

3 SubmittersRCV001898807 RCV002397878 RCV003452120

NM_000251.3(MSH2):c.1660A>G (p.Ser554Gly)

SNV
Germline

Chr2:47466807

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA018814

rs_63751656

5 SubmittersRCV000076214 RCV000491028 RCV000985797 RCV003593895 RCV003452846

NM_000251.3(MSH2):c.1660A>T (p.Ser554Cys)

SNV
Germline

Chr2:47466807

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA018820

rs_63751656

1 SubmittersRCV000076215

NM_000251.3(MSH2):c.1661+1G>A

SNV
Germline

Chr2:47466809

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA018837

rs_267607969

7 SubmittersRCV000076216 RCV000627711 RCV000986675 RCV002465505 RCV002399455

NM_000251.3(MSH2):c.1661+1G>T

SNV
Germline/somatic

Chr2:47466809

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Reviewed By Expert Panel

CA018841

rs_267607969

7 SubmittersRCV000076217 RCV000491252 RCV000986676 RCV001070711 RCV002498366

NM_000251.3(MSH2):c.1661+5G>C

SNV
Germline

Chr2:47466813

Pathogenic/Likely pathogenic

Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA018846

rs_267607972

7 SubmittersRCV000076218 RCV000490916 RCV000812895 RCV003327366 RCV004019107

NM_000251.3(MSH2):c.1661G>C (p.Ser554Thr)

SNV
Germline

Chr2:47466808

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA018877

rs_63750597

6 SubmittersRCV000076221 RCV000491785 RCV001357409 RCV003593896 RCV003452847

NM_000251.3(MSH2):c.1662-1G>A

SNV
Germline/somatic

Chr2:47470964

Pathogenic

Mismatch repair cancer syndrome 2
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome

Reviewed By Expert Panel

CA018892

rs_267607970

9 SubmittersRCV000001836 RCV000076224 RCV000491087 RCV001249923 RCV003452848 RCV001239294 RCV005031559

NM_000251.3(MSH2):c.1662-2A>G

SNV
Germline

Chr2:47470963

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA018902

rs_267607971

4 SubmittersRCV000076225 RCV000560516 RCV001526860 RCV002399456

NM_000251.3(MSH2):c.166G>T (p.Glu56Ter)

SNV
Germline

Chr2:47403357

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA018959

rs_587779102

5 SubmittersRCV000076238 RCV002399458 RCV003452849 RCV006461421

NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)

SNV
Germline

Chr2:47470984

Conflicting classifications of pathogenicity

Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
not specified

Criteria Provided
Conflicting Classifications

CA018988

rs_63750328

16 SubmittersRCV000410128 RCV000484663 RCV000524354 RCV000568086 RCV001198848 RCV003997152 RCV005394320 RCV005417454

NM_000251.3(MSH2):c.1693A>T (p.Lys565Ter)

SNV
Germline

Chr2:47470996

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA019034

rs_587779104

1 SubmittersRCV000076248

NM_000251.3(MSH2):c.1699A>T (p.Lys567Ter)

SNV
Germline

Chr2:47471002

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA019047

rs_63751149

4 SubmittersRCV000076250 RCV001854316 RCV004786357 RCV004639136

NM_000251.3(MSH2):c.1720C>T (p.Gln574Ter)

SNV
Germline

Chr2:47471023

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA019108

rs_63751298

4 SubmittersRCV000076257 RCV003452853 RCV002399460

NM_000251.3(MSH2):c.1738G>T (p.Glu580Ter)

SNV
Germline/somatic

Chr2:47471041

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Ovarian neoplasm
Lynch-like syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019142

rs_63751411

9 SubmittersRCV000076261 RCV000483706 RCV000491635 RCV000552781 RCV000785573 RCV001249917 RCV003452854

NM_000251.3(MSH2):c.1759+1G>A

SNV
Germline

Chr2:47471063

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA019177

rs_587779108

9 SubmittersRCV000076265 RCV000213952 RCV000558350 RCV001193999 RCV001508076 RCV002272054

NM_000251.3(MSH2):c.1759+2T>A

SNV
Germline

Chr2:47471064

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Reviewed By Expert Panel

CA019182

rs_267607976

4 SubmittersRCV000076266 RCV000131428 RCV001052476 RCV003137611

NM_000251.3(MSH2):c.1759+2T>C

SNV
Germline

Chr2:47471064

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA019188

rs_267607976

5 SubmittersRCV000076267 RCV000804797 RCV001013049

NM_000251.3(MSH2):c.1759G>C (p.Gly587Arg)

SNV
Germline

Chr2:47471062

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019199

rs_63751140

4 SubmittersRCV000076270 RCV000700587 RCV002408594 RCV003452855

NM_000251.3(MSH2):c.1760-1G>A

SNV
Germline/somatic

Chr2:47475024

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA019206

rs_587779110

13 SubmittersRCV000076272 RCV000481985 RCV000491462 RCV000546853 RCV003452856 RCV003993791 RCV006439627

NM_000251.3(MSH2):c.1764T>G (p.Tyr588Ter)

SNV
Germline/somatic

Chr2:47475029

Pathogenic

Lynch syndrome
Lynch-like syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA019239

rs_63750844

3 SubmittersRCV000076279 RCV001250030 RCV002399462

NM_000251.3(MSH2):c.1774A>G (p.Met592Val)

SNV
Germline

Chr2:47475039

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019271

rs_371614039

16 SubmittersRCV000160595 RCV000212609 RCV000662460 RCV000524360 RCV000656879 RCV001357833 RCV003997153

NM_000251.3(MSH2):c.1777C>T (p.Gln593Ter)

SNV
Germline/somatic

Chr2:47475042

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Reviewed By Expert Panel

CA019278

rs_63750200

8 SubmittersRCV000076282 RCV000540595 RCV001269629 RCV001249920 RCV002399463 RCV003452857 RCV006253777

NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly)

SNV
Germline

Chr2:47475073

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019354

rs_267607985

4 SubmittersRCV000076292 RCV001854317 RCV002408595 RCV003460714

NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)

SNV
Germline

Chr2:47403372

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA019387

rs_63750951

11 SubmittersRCV000076295 RCV000202086 RCV000219541 RCV000524363 RCV003452858

NM_000251.3(MSH2):c.1828C>A (p.His610Asn)

SNV
Germline

Chr2:47475093

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA019403

rs_267607980

6 SubmittersRCV000428720 RCV000663086 RCV000707667 RCV001526105

NM_000251.3(MSH2):c.182A>C (p.Gln61Pro)

SNV
Germline

Chr2:47403373

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019414

rs_587779113

9 SubmittersRCV000662761 RCV000708715 RCV001218170 RCV001703978 RCV003317078 RCV003997154

NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter)

SNV
Germline

Chr2:47475100

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA019418

rs_63750493

10 SubmittersRCV000076300 RCV000202183 RCV000491040 RCV000629963 RCV001357329 RCV003452860 RCV006449982

NM_000251.3(MSH2):c.1857T>G (p.Tyr619Ter)

SNV
Germline

Chr2:47475122

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019449

rs_63750312

4 SubmittersRCV000076303 RCV000688460 RCV002408598 RCV003452862

NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)

SNV
Germline/somatic

Chr2:47475126

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch-like syndrome
Hereditary nonpolyposis colon cancer
Breast carcinoma
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA019461

rs_63750508

21 SubmittersRCV000076305 RCV000414448 RCV000491286 RCV000524364 RCV000602838 RCV000763492 RCV001249915 RCV001328039 RCV001650893 RCV005357487 RCV005055066

NM_000251.3(MSH2):c.1864C>A (p.Pro622Thr)

SNV
Germline

Chr2:47475129

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA019468

rs_63750280

4 SubmittersRCV000255200 RCV000491749 RCV001036384 RCV003452863

NM_000251.3(MSH2):c.1885C>T (p.Gln629Ter)

SNV
Germline

Chr2:47475150

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Reviewed By Expert Panel

CA019511

rs_63750203

6 SubmittersRCV000076313 RCV001013537 RCV001071237 RCV003478996 RCV003452867

NM_000251.3(MSH2):c.1907C>T (p.Ala636Val)

SNV
Germline

Chr2:47475172

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019539

rs_63750279

9 SubmittersRCV000524367 RCV000583770 RCV001588896 RCV003460715 RCV004689445 RCV004806055

NM_000251.3(MSH2):c.1933C>G (p.Gln645Glu)

SNV
Germline

Chr2:47475198

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019587

rs_267607982

8 SubmittersRCV000115513 RCV000540956 RCV000573883 RCV000662923 RCV003997155

NM_000251.3(MSH2):c.1955C>A (p.Pro652His)

SNV
Germline

Chr2:47475220

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA019605

rs_267607983

1 SubmittersRCV000076325

NM_000251.3(MSH2):c.1968C>G (p.Tyr656Ter)

SNV
Germline

Chr2:47475233

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA019616

rs_63751317

5 SubmittersRCV000076327 RCV001013869 RCV001069113 RCV003452869 RCV004998191

NM_000251.3(MSH2):c.2005+1G>A

SNV
Germline

Chr2:47475271

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA019701

rs_267607986

5 SubmittersRCV000076337 RCV000078422 RCV001014038 RCV001068056 RCV003452871

NM_000251.3(MSH2):c.2005+1G>C

SNV
Germline

Chr2:47475271

Likely pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA019708

rs_267607986

3 SubmittersRCV000076338 RCV003452872 RCV003162495

NM_000251.3(MSH2):c.2005+1G>T

SNV
Germline

Chr2:47475271

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019713

rs_267607986

4 SubmittersRCV000076339 RCV001854321 RCV002415557 RCV003452873

NM_000251.3(MSH2):c.2005+2T>C

SNV
Germline

Chr2:47475272

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA019723

rs_267607987

5 SubmittersRCV000076341 RCV002415558 RCV003452874 RCV003593898

NM_000251.3(MSH2):c.2006-1G>C

SNV
Germline

Chr2:47476366

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA019741

rs_267607988

4 SubmittersRCV000076347 RCV000491159 RCV001379378 RCV003452876

NM_000251.3(MSH2):c.2006-2A>G

SNV
Germline

Chr2:47476365

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA019751

rs_267607991

7 SubmittersRCV000076349 RCV000774579 RCV001420710 RCV003452877 RCV004998192 RCV006461423

NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp)

SNV
Germline

Chr2:47476367

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019774

rs_63751640

4 SubmittersRCV002415559 RCV001854322 RCV003452878

NM_000251.3(MSH2):c.2006G>T (p.Gly669Val)

SNV
Germline

Chr2:47476367

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA019785

rs_63751640

7 SubmittersRCV000076356 RCV000491447 RCV000581599 RCV000692084 RCV003452879 RCV002477219

NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)

SNV
Germline

Chr2:47476370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
not specified
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA019790

rs_41294982

13 SubmittersRCV000220086 RCV000483333 RCV000524371 RCV000765672 RCV002265597 RCV003389040 RCV003997156 RCV004734631 RCV005394321

NM_000251.3(MSH2):c.2011A>T (p.Asn671Tyr)

SNV
Germline

Chr2:47476372

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA019806

rs_63751232

2 SubmittersRCV002417363 RCV003454316

NM_000251.3(MSH2):c.2013T>A (p.Asn671Lys)

SNV
Germline

Chr2:47476374

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019811

rs_587779127

4 SubmittersRCV000759107 RCV003758687 RCV004019108 RCV003452880

NM_000251.3(MSH2):c.2020G>C (p.Gly674Arg)

SNV
Germline

Chr2:47476381

Likely pathogenic

Lynch syndrome
Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA019825

rs_63750234

5 SubmittersRCV000076362 RCV003452881 RCV001723648 RCV004943750

NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp)

SNV
Germline

Chr2:47476382

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019835

rs_267607996

5 SubmittersRCV000076363 RCV000254985 RCV002415560 RCV003452882

NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg)

SNV
Germline

Chr2:47476408

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA019900

rs_267607995

10 SubmittersRCV000076370 RCV000132039 RCV000202225 RCV000524373 RCV001264415 RCV001588897 RCV003452883

NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro)

SNV
Germline

Chr2:47476421

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA019927

rs_587779133

8 SubmittersRCV000160600 RCV000524374 RCV000586744 RCV003452885 RCV004700382

NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)

SNV
Germline

Chr2:47476424

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
Lynch syndrome 1

Reviewed By Expert Panel

CA019937

rs_63749993

6 SubmittersRCV000076376 RCV000524375 RCV000491088 RCV001284172 RCV001353848 RCV001804825

NM_000251.3(MSH2):c.2064G>A (p.Met688Ile)

SNV
Germline

Chr2:47476425

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019942

rs_63750790

15 SubmittersRCV000165796 RCV000410248 RCV000524376 RCV001030713 RCV001260344 RCV001588898 RCV003997157

NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg)

SNV
Germline

Chr2:47476435

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA019963

rs_63750232

4 SubmittersRCV000076380 RCV000491588 RCV000821619

NM_000251.3(MSH2):c.2075G>T (p.Gly692Val)

SNV
Germline

Chr2:47476436

Likely pathogenic

Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA019969

rs_63751432

5 SubmittersRCV000076382 RCV001355702 RCV002415563 RCV005089518 RCV005621870

NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu)

SNV
Germline

Chr2:47476448

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA019979

rs_267607994

7 SubmittersRCV000076383 RCV000492029 RCV000501546 RCV001034643 RCV003452886 RCV005430965

NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg)

SNV
Germline

Chr2:47476450

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
MSH2-related disorder

Reviewed By Expert Panel

CA019984

rs_63750961

7 SubmittersRCV000076384 RCV002228184 RCV002415564 RCV005394322 RCV004537293

NM_000251.3(MSH2):c.2090G>T (p.Cys697Phe)

SNV
Germline

Chr2:47476451

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA019999

rs_63750398

4 SubmittersRCV000076385 RCV000571689 RCV003593899

NM_000251.3(MSH2):c.2091T>A (p.Cys697Ter)

SNV
Germline

Chr2:47476452

Pathogenic

Lynch syndrome
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA020005

rs_63750872

3 SubmittersRCV000076386 RCV000657647 RCV003452887

NM_000251.3(MSH2):c.2096C>G (p.Ser699Ter)

SNV
Germline

Chr2:47476457

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA020010

rs_587779136

8 SubmittersRCV000076387 RCV000490933 RCV000657578 RCV002228185 RCV003452888

NM_000251.3(MSH2):c.212-1G>A

SNV
Germline/somatic

Chr2:47408400

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020080

rs_267607914

12 SubmittersRCV000076394 RCV000202270 RCV000218216 RCV000696322 RCV001250032 RCV003452890

NM_000251.3(MSH2):c.212-2A>G

SNV
Germline

Chr2:47408399

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA020085

rs_267607917

8 SubmittersRCV000076395 RCV001699196 RCV002415565 RCV003452891 RCV004767060 RCV005089519

NM_000251.3(MSH2):c.212-478T>G

SNV
Germline

Chr2:47407923

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA020095

rs_587779138

4 SubmittersRCV000076396 RCV002415566 RCV005357488 RCV005089520

NM_000251.3(MSH2):c.2123T>A (p.Ile708Asn)

SNV
Germline

Chr2:47476484

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA020091

rs_63750108

2 SubmittersRCV002417652 RCV003454328

NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)

SNV
Germline/somatic

Chr2:47476492

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
not specified
Lynch-like syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020107

rs_63750636

26 SubmittersRCV000076405 RCV000129341 RCV000202062 RCV000524377 RCV000763494 RCV001000186 RCV001249926 RCV002272055

NM_000251.3(MSH2):c.2141C>T (p.Ala714Val)

SNV
Germline

Chr2:47476502

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
MSH2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020132

rs_63751224

6 SubmittersRCV000535935 RCV000574384 RCV003997159 RCV004537294 RCV005603599

NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)

SNV
Germline

Chr2:47476513

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA020138

rs_587779139

13 SubmittersRCV000076411 RCV000214955 RCV000506389 RCV000627699 RCV001353948 RCV001804826 RCV004767061

NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe)

SNV
Germline

Chr2:47476529

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020163

rs_63750794

7 SubmittersRCV000802176 RCV002465506 RCV003584545 RCV003320558

NM_000251.3(MSH2):c.2191G>T (p.Glu731Ter)

SNV
Germline

Chr2:47476552

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020196

rs_63749802

3 SubmittersRCV000076417 RCV002415567 RCV003452893

NM_000251.3(MSH2):c.2210+1G>A

SNV
Germline

Chr2:47476572

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA020243

rs_267608002

9 SubmittersRCV000076423 RCV000490900 RCV000524382 RCV003452895 RCV005237508

NM_000251.3(MSH2):c.2210+1G>C

SNV
Germline

Chr2:47476572

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA020247

rs_267608002

2 SubmittersRCV000076424 RCV003584546

NM_000251.3(MSH2):c.2211-10T>A

SNV
Germline

Chr2:47478262

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020271

rs_267608006

6 SubmittersRCV000478566 RCV000491555 RCV000791387 RCV003460716 RCV003997160

NM_000251.3(MSH2):c.2211-1G>T

SNV
Germline/somatic

Chr2:47478271

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA020276

rs_267607979

5 SubmittersRCV000076430 RCV000490951 RCV001854325 RCV003452896

NM_000251.3(MSH2):c.2211-2A>C

SNV
Germline

Chr2:47478270

Likely pathogenic

Lynch syndrome
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA020281

rs_267608001

3 SubmittersRCV000076431 RCV001823111 RCV004696689

NM_000251.3(MSH2):c.2211-2A>T

SNV
Germline

Chr2:47478270

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA020287

rs_267608001

5 SubmittersRCV000076432 RCV001854326 RCV003228904 RCV003452897

NM_000251.3(MSH2):c.2228C>A (p.Ser743Ter)

SNV
Germline

Chr2:47478289

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020302

rs_63751155

6 SubmittersRCV000076434 RCV000236386 RCV001062167 RCV004649067 RCV003452898

NM_000251.3(MSH2):c.2228C>G (p.Ser743Ter)

SNV
Germline

Chr2:47478289

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA020306

rs_63751155

9 SubmittersRCV000076435 RCV000491630 RCV000630114 RCV000851293 RCV001353876

NM_000251.3(MSH2):c.2231T>G (p.Leu744Ter)

SNV
Germline

Chr2:47478292

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA020311

rs_63750403

2 SubmittersRCV000076437 RCV002426634

NM_000251.3(MSH2):c.2245G>A (p.Glu749Lys)

SNV
Germline

Chr2:47478306

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA020357

rs_63751477

4 SubmittersRCV000076444 RCV000218283 RCV001062435 RCV003452901

NM_000251.3(MSH2):c.2251G>A (p.Gly751Arg)

SNV
Germline

Chr2:47478312

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020361

rs_63751119

4 SubmittersRCV000076445 RCV000561670 RCV003452902

NM_000251.3(MSH2):c.226C>T (p.Gln76Ter)

SNV
Germline/somatic

Chr2:47408415

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020381

rs_63750042

8 SubmittersRCV000076447 RCV000202307 RCV000491576 RCV000684780 RCV001250039 RCV003312993

NM_000251.3(MSH2):c.2275G>T (p.Gly759Ter)

SNV
Germline

Chr2:47478336

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA020392

rs_63749854

4 SubmittersRCV000076448 RCV000223378 RCV000798392 RCV003452903

NM_000251.3(MSH2):c.2291G>A (p.Trp764Ter)

SNV
Germline

Chr2:47478352

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA020422

rs_587779143

4 SubmittersRCV000076450 RCV000491006 RCV000694856 RCV003452904

NM_000251.3(MSH2):c.2292G>A (p.Trp764Ter)

SNV
Germline

Chr2:47478353

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA020435

rs_63751105

4 SubmittersRCV000076451 RCV000584494 RCV001206689

NM_000251.3(MSH2):c.2308A>G (p.Ile770Val)

SNV
Germline

Chr2:47478369

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020467

rs_63750684

13 SubmittersRCV000217041 RCV000410216 RCV000524385 RCV000586175 RCV001804168 RCV004734632

NM_000251.3(MSH2):c.2334C>A (p.Cys778Ter)

SNV
Germline

Chr2:47478395

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA020471

rs_63750618

6 SubmittersRCV000076458 RCV000115517 RCV000491112 RCV000663148 RCV001388594

NM_000251.3(MSH2):c.2337G>A (p.Met779Ile)

SNV
Germline

Chr2:47478398

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020479

rs_41295292

6 SubmittersRCV000160610 RCV000572885 RCV000629729 RCV003997161

NM_000251.3(MSH2):c.2400A>G (p.Leu800=)

SNV
Germline

Chr2:47478461

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020556

rs_201298777

17 SubmittersRCV000160651 RCV000212619 RCV000410686 RCV000724817 RCV001083867 RCV001354589 RCV004537295

NM_000251.3(MSH2):c.2420C>G (p.Thr807Ser)

SNV
Germline

Chr2:47478481

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA020570

rs_41295294

3 SubmittersRCV000573758 RCV000627714 RCV005394323

NM_000251.3(MSH2):c.2422G>T (p.Glu808Ter)

SNV
Germline

Chr2:47478483

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA020574

rs_34986638

2 SubmittersRCV000076471 RCV002453386

NM_000251.3(MSH2):c.2432T>G (p.Leu811Ter)

SNV
Germline

Chr2:47478493

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Reviewed By Expert Panel

CA020589

rs_63751018

4 SubmittersRCV000076473 RCV001388595 RCV002298462 RCV003452910

NM_000251.3(MSH2):c.2446C>T (p.Gln816Ter)

SNV
Germline

Chr2:47478507

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA020600

rs_63749917

5 SubmittersRCV000076476 RCV001015571 RCV001201361 RCV003452911 RCV005600646

NM_000251.3(MSH2):c.244A>T (p.Lys82Ter)

SNV
Germline

Chr2:47408433

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA020604

rs_587779145

1 SubmittersRCV000076477

NM_000251.3(MSH2):c.2458+1G>A

SNV
Germline

Chr2:47478520

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA020608

rs_267608010

8 SubmittersRCV000076478 RCV000479442 RCV000491889 RCV000704889 RCV003452912

NM_000251.3(MSH2):c.2459-12A>G

SNV
Germline/somatic

Chr2:47480684

Pathogenic/Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA020616

rs_267608012

9 SubmittersRCV000076479 RCV000160620 RCV001015604 RCV001854328 RCV003452913 RCV005025127 RCV004586538

NM_000251.3(MSH2):c.2470C>T (p.Gln824Ter)

SNV
Germline

Chr2:47480707

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA020635

rs_63750623

6 SubmittersRCV000076485 RCV000491152 RCV000816151 RCV001284510 RCV003452914

NM_000251.3(MSH2):c.2503A>C (p.Asn835His)

SNV
Germline

Chr2:47480740

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA020651

rs_41295296

17 SubmittersRCV000115519 RCV000212621 RCV000410916 RCV000656882 RCV001082618 RCV003997162 RCV004734633 RCV005357489

NM_000251.3(MSH2):c.2516A>G (p.His839Arg)

SNV
Germline

Chr2:47480753

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Ovarian cancer
not specified
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA020662

rs_63750027

12 SubmittersRCV000076492 RCV000166332 RCV000486446 RCV000765673 RCV000986690 RCV001085048 RCV001354097 RCV003153356 RCV004525868 RCV006449983

NM_000251.3(MSH2):c.2517T>A (p.His839Gln)

SNV
Germline

Chr2:47480754

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020666

rs_267608016

9 SubmittersRCV000216575 RCV000479296 RCV000524391 RCV001357139 RCV003997163 RCV003466966

NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu)

SNV
Germline

Chr2:47480770

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary breast ovarian cancer syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020689

rs_63750571

11 SubmittersRCV000215108 RCV000524393 RCV000662762 RCV001030485 RCV001174808 RCV003997164

NM_000251.3(MSH2):c.2536C>T (p.Gln846Ter)

SNV
Germline

Chr2:47480773

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA020692

rs_63750857

5 SubmittersRCV000076498 RCV000657648 RCV001207810 RCV003452918 RCV002453388

NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile)

SNV
Germline

Chr2:47480788

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA020709

rs_267608015

10 SubmittersRCV000236323 RCV000410329 RCV000491427 RCV000552050 RCV002247471 RCV003153357

NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala)

SNV
Germline

Chr2:47480795

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Carcinoma of colon
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020731

rs_63750797

12 SubmittersRCV000164439 RCV000484878 RCV000541354 RCV000663223 RCV000656884 RCV001356683 RCV003997165

NM_000251.3(MSH2):c.2558A>G (p.Glu853Gly)

SNV
Germline

Chr2:47480795

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020735

rs_63750797

10 SubmittersRCV000160622 RCV000524394 RCV000583069 RCV001818240 RCV003492424 RCV003997166

NM_000251.3(MSH2):c.2567A>G (p.Tyr856Cys)

SNV
Germline

Chr2:47480804

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA020747

rs_587779150

8 SubmittersRCV000662430 RCV000692140 RCV000774582 RCV001818241

NM_000251.3(MSH2):c.2575G>T (p.Glu859Ter)

SNV
Germline

Chr2:47480812

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
MSH2-related disorder

Reviewed By Expert Panel

CA020766

rs_63749830

7 SubmittersRCV000076506 RCV000794539 RCV001015992 RCV003452920 RCV004724795

NM_000251.3(MSH2):c.2579C>A (p.Ser860Ter)

SNV
Germline

Chr2:47480816

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA020773

rs_63750849

6 SubmittersRCV000076507 RCV000144616 RCV000491600 RCV002281910 RCV002228186

NM_000251.3(MSH2):c.2581C>T (p.Gln861Ter)

SNV
Germline

Chr2:47480818

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA020783

rs_63750291

6 SubmittersRCV000076509 RCV000491532 RCV001386002 RCV003452921 RCV004700383

NM_000251.3(MSH2):c.2622T>A (p.Tyr874Ter)

SNV
Germline

Chr2:47480859

Pathogenic

Lynch syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020820

rs_587779152

2 SubmittersRCV000076516 RCV003452922

NM_000251.3(MSH2):c.2634+1G>A

SNV
Germline

Chr2:47480872

Likely pathogenic

Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA020828

rs_267608019

9 SubmittersRCV000076518 RCV000506677 RCV000491073 RCV000688047 RCV002222380 RCV003452923

NM_000251.3(MSH2):c.2634+1G>T

SNV
Germline/somatic

Chr2:47480872

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA020831

rs_267608019

7 SubmittersRCV000076519 RCV001016179 RCV001250026 RCV001386003 RCV003452924 RCV006259004

NM_000251.3(MSH2):c.2634+5G>C

SNV
Germline

Chr2:47480876

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Familial cancer of breast

Reviewed By Expert Panel

CA020838

rs_267608017

8 SubmittersRCV000076521 RCV000491990 RCV001063481 RCV003452925 RCV005364970

NM_000251.3(MSH2):c.2634+5G>T

SNV
Germline

Chr2:47480876

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA020841

rs_267608017

2 SubmittersRCV001378570 RCV003452926

NM_000251.3(MSH2):c.2634G>A (p.Glu878=)

SNV
Germline

Chr2:47480871

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Reviewed By Expert Panel

CA020844

rs_63751624

6 SubmittersRCV000076523 RCV000491856 RCV000519129 RCV000791439 RCV001255522 RCV003452927

NM_000251.3(MSH2):c.2635-1G>T

SNV
Germline

Chr2:47482778

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020850

rs_267608020

4 SubmittersRCV000076525 RCV000629741 RCV002426638 RCV003452929

NM_000251.3(MSH2):c.2635C>T (p.Gln879Ter)

SNV
Germline

Chr2:47482779

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA020860

rs_63751469

5 SubmittersRCV000076530 RCV000491055 RCV000521246 RCV000697633

NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter)

SNV
Germline

Chr2:47482797

Pathogenic

Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA020873

rs_63750808

9 SubmittersRCV000076535 RCV000202119 RCV000491409 RCV001386004 RCV003155064

NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile)

SNV
Germline

Chr2:47482858

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020895

rs_267608022

13 SubmittersRCV000131745 RCV000235233 RCV000781552 RCV001084144 RCV003997168 RCV004734634

NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)

SNV
Germline

Chr2:47482876

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Carcinoma of colon
Breast and/or ovarian cancer
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020910

rs_41295182

18 SubmittersRCV000129717 RCV000172810 RCV000235177 RCV000524397 RCV000589745 RCV000760996 RCV001354813 RCV003149751 RCV004528276

NM_000251.3(MSH2):c.274C>G (p.Leu92Val)

SNV
Germline

Chr2:47408463

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Condition: not provided
not specified
Lynch syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020916

rs_587779154

15 SubmittersRCV000221964 RCV000412138 RCV000552261 RCV001196697 RCV001353838 RCV003387753 RCV003997169 RCV006261697

NM_000251.3(MSH2):c.277C>T (p.Leu93Phe)

SNV
Germline

Chr2:47408466

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA020925

rs_63751429

3 SubmittersRCV000076546 RCV002433581 RCV002465507

NM_000251.3(MSH2):c.2790A>G (p.Ile930Met)

SNV
Germline

Chr2:47482934

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020945

rs_587779155

5 SubmittersRCV000411744 RCV000691322 RCV001016615

NM_000251.3(MSH2):c.289C>T (p.Gln97Ter)

SNV
Germline

Chr2:47408478

Pathogenic

Lynch syndrome
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA020970

rs_63750970

10 SubmittersRCV000076556 RCV000160586 RCV000409729 RCV000491888 RCV000699084

NM_000251.3(MSH2):c.28C>T (p.Gln10Ter)

SNV
Germline

Chr2:47403219

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA020976

rs_63751099

7 SubmittersRCV000076557 RCV000804938 RCV003452931 RCV006273505 RCV005659853

NM_000251.3(MSH2):c.293A>G (p.Tyr98Cys)

SNV
Germline

Chr2:47408482

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020980

rs_63750887

3 SubmittersRCV000693356 RCV005443016 RCV004806056

NM_000251.3(MSH2):c.301G>T (p.Glu101Ter)

SNV
Germline

Chr2:47408490

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA020992

rs_63750318

5 SubmittersRCV000076561 RCV000569740 RCV001389138 RCV003452932

NM_000251.3(MSH2):c.308A>G (p.Tyr103Cys)

SNV
Germline

Chr2:47408497

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021001

rs_63751173

10 SubmittersRCV000478164 RCV000491016 RCV000662774 RCV001232251 RCV003997171

NM_000251.3(MSH2):c.319G>C (p.Ala107Pro)

SNV
Germline

Chr2:47408508

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021012

rs_587779158

7 SubmittersRCV000131126 RCV000811372 RCV003317079 RCV003466967 RCV003997172

NM_000251.3(MSH2):c.363T>G (p.Tyr121Ter)

SNV
Germline

Chr2:47408552

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA021049

rs_63750458

6 SubmittersRCV000076572 RCV000580738 RCV001070054 RCV003452935

NM_000251.3(MSH2):c.366+1G>T

SNV
Germline

Chr2:47408556

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA021052

rs_267607924

6 SubmittersRCV000076573 RCV000759832 RCV001059850 RCV002453390 RCV003452936

NM_000251.3(MSH2):c.367-1G>A

SNV
Germline

Chr2:47410093

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA021069

rs_267607925

4 SubmittersRCV000076577 RCV000491499 RCV001377879 RCV003452937

NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)

SNV
Germline

Chr2:47410152

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome

Reviewed By Expert Panel

CA021151

rs_63750910

8 SubmittersRCV000076598 RCV000519167 RCV001071576 RCV001022162 RCV001797622 RCV003452940 RCV005394327

NM_000251.3(MSH2):c.435T>G (p.Ile145Met)

SNV
Germline

Chr2:47410162

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, non-polyposis
not specified
Condition: not provided
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Breast carcinoma
Carcinoma of colon
Breast and/or ovarian cancer
MSH2-related disorder
Lynch syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA021158

rs_63750124

28 SubmittersRCV000115532 RCV000148628 RCV000212585 RCV000588226 RCV000662480 RCV000764421 RCV001085983 RCV001262752 RCV001358588 RCV001798267 RCV004528278 RCV004806057 RCV005234973

NM_000251.3(MSH2):c.446G>A (p.Gly149Asp)

SNV
Germline

Chr2:47410173

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021170

rs_587779162

5 SubmittersRCV000821319 RCV001022532 RCV001358250 RCV003452941

NM_000251.3(MSH2):c.472C>T (p.Gln158Ter)

SNV
Germline

Chr2:47410199

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA021185

rs_63751226

4 SubmittersRCV000076605 RCV001192612 RCV002336225 RCV003452942

NM_000251.3(MSH2):c.478C>T (p.Gln160Ter)

SNV
Germline/somatic

Chr2:47410205

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA021192

rs_63751426

6 SubmittersRCV000076606 RCV000547313 RCV001250038 RCV001532993 RCV002336226 RCV003452943

NM_000251.3(MSH2):c.482T>A (p.Val161Asp)

SNV
Germline

Chr2:47410209

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021196

rs_63750126

3 SubmittersRCV000076607 RCV000490837

NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)

SNV
Germline

Chr2:47410211

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colon cancer
Muir-Torré syndrome
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA021199

rs_63750624

14 SubmittersRCV000076608 RCV000491163 RCV000524412 RCV000662882 RCV000985811 RCV001194033 RCV004546430 RCV006273007

NM_000251.3(MSH2):c.488T>A (p.Val163Asp)

SNV
Germline

Chr2:47410215

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA021206

rs_63750214

6 SubmittersRCV000076610 RCV000492044 RCV004566934 RCV004998195 RCV003593902

NM_000251.3(MSH2):c.488T>G (p.Val163Gly)

SNV
Germline

Chr2:47410215

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021209

rs_63750214

2 SubmittersRCV000076611 RCV001183049

NM_000251.3(MSH2):c.490G>A (p.Gly164Arg)

SNV
Germline/somatic

Chr2:47410217

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA021212

rs_63750582

8 SubmittersRCV000076612 RCV000491974 RCV001249918 RCV001293544 RCV001390798 RCV003452944 RCV004760368

NM_000251.3(MSH2):c.490G>T (p.Gly164Trp)

SNV
Germline

Chr2:47410217

Pathogenic/Likely pathogenic

Familial colorectal cancer
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA021215

rs_63750582

6 SubmittersRCV000168725 RCV000491255 RCV001060501 RCV000767200 RCV003444198

NM_000251.3(MSH2):c.493T>G (p.Tyr165Asp)

SNV
Germline

Chr2:47410220

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021222

rs_587779163

3 SubmittersRCV000076614 RCV000630010 RCV003584547

NM_000251.3(MSH2):c.508C>T (p.Gln170Ter)

SNV
Germline

Chr2:47410235

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA021248

rs_63750843

8 SubmittersRCV000076621 RCV000236121 RCV000491287 RCV000785436 RCV000791416 RCV003452945

NM_000251.3(MSH2):c.512G>A (p.Arg171Lys)

SNV
Germline

Chr2:47410239

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021254

rs_63750902

7 SubmittersRCV000570883 RCV000627693 RCV001137124 RCV003231115 RCV003997176

NM_000251.3(MSH2):c.518T>C (p.Leu173Pro)

SNV
Germline/somatic

Chr2:47410245

Pathogenic/Likely pathogenic

Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA021269

rs_63750070

6 SubmittersRCV001353990 RCV001854331 RCV002290960 RCV002336228 RCV003997177

NM_000251.3(MSH2):c.518T>G (p.Leu173Arg)

SNV
Germline

Chr2:47410245

Pathogenic

Lynch syndrome 1
Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021275

rs_63750070

4 SubmittersRCV000076626 RCV000778170 RCV005251058

NM_000251.3(MSH2):c.524T>C (p.Leu175Pro)

SNV
Germline

Chr2:47410251

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA021302

rs_63751291

8 SubmittersRCV000697263 RCV001184535 RCV001800375 RCV003452948 RCV004806058 RCV005237509

NM_000251.3(MSH2):c.529G>T (p.Glu177Ter)

SNV
Germline

Chr2:47410256

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA021325

rs_63750382

3 SubmittersRCV000076632 RCV002345386 RCV005089521

NM_000251.3(MSH2):c.547C>T (p.Gln183Ter)

SNV
Germline

Chr2:47410274

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA021358

rs_63750037

6 SubmittersRCV000076634 RCV000561236 RCV001781399 RCV003452950 RCV006461424

NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)

SNV
Germline

Chr2:47410284

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA021391

rs_151129360

16 SubmittersRCV000130716 RCV000202264 RCV000411418 RCV000587046 RCV001081828 RCV001798268 RCV005357494

NM_000251.3(MSH2):c.560T>C (p.Leu187Pro)

SNV
Germline

Chr2:47410287

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch syndrome 1

Reviewed By Expert Panel

CA021405

rs_63751444

6 SubmittersRCV000076638 RCV000581973 RCV001240116 RCV001353422 RCV003466968

NM_000251.3(MSH2):c.560T>G (p.Leu187Arg)

SNV
Germline

Chr2:47410287

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA021414

rs_63751444

6 SubmittersRCV000076639 RCV000822250 RCV002345387 RCV003452951 RCV005229883

NM_000251.3(MSH2):c.577C>T (p.Gln193Ter)

SNV
Germline

Chr2:47410304

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA021466

rs_63751326

6 SubmittersRCV000076645 RCV000490948 RCV000629870 RCV001284655 RCV003452952

NM_000251.3(MSH2):c.592G>A (p.Glu198Lys)

SNV
Germline

Chr2:47410319

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA021501

rs_587779166

4 SubmittersRCV003311405 RCV003455794 RCV005102822

NM_000251.3(MSH2):c.595T>C (p.Cys199Arg)

SNV
Germline

Chr2:47410322

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA021524

rs_63751110

5 SubmittersRCV000076650 RCV001854333 RCV003315405 RCV004019518 RCV004808575

NM_000251.3(MSH2):c.596G>A (p.Cys199Tyr)

SNV
Germline

Chr2:47410323

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA021530

rs_63751136

4 SubmittersRCV000160619 RCV002354269 RCV003452954 RCV005089522

NM_000251.3(MSH2):c.599T>A (p.Val200Asp)

SNV
Germline

Chr2:47410326

Pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021536

rs_587779167

3 SubmittersRCV000076652 RCV000811653 RCV002354270

NM_000251.3(MSH2):c.610G>T (p.Gly204Ter)

SNV
Germline

Chr2:47410337

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA021582

rs_63750574

5 SubmittersRCV000076653 RCV000815594 RCV002307390 RCV003162499 RCV003452955

NM_000251.3(MSH2):c.613G>T (p.Glu205Ter)

SNV
Germline

Chr2:47410340

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021588

rs_63749984

3 SubmittersRCV000076654 RCV001225117 RCV002354271

NM_000251.3(MSH2):c.643C>T (p.Gln215Ter)

SNV
Germline

Chr2:47410370

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Reviewed By Expert Panel

CA021638

rs_63751274

7 SubmittersRCV000076658 RCV000657646 RCV001854334 RCV002362713 RCV002463636 RCV003150809

NM_000251.3(MSH2):c.645+1G>A

SNV
Germline

Chr2:47410373

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA021643

rs_267607689

5 SubmittersRCV000076659 RCV000491616 RCV000985815 RCV001854335

NM_000251.3(MSH2):c.645+1G>T

SNV
Germline

Chr2:47410373

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder

Reviewed By Expert Panel

CA021649

rs_267607689

5 SubmittersRCV000076660 RCV000220374 RCV002247472 RCV001854336 RCV004797778

NM_000251.3(MSH2):c.645+3A>G

SNV
Germline

Chr2:47410375

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021655

rs_587779168

10 SubmittersRCV000419965 RCV000491694 RCV000627695 RCV003997178 RCV003477472 RCV004791261

NM_000251.3(MSH2):c.646-2A>G

SNV
Germline

Chr2:47412412

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA021672

rs_587779169

7 SubmittersRCV000076665 RCV000817666 RCV001800376 RCV002362714 RCV003452957

NM_000251.3(MSH2):c.646-3T>G

SNV
Germline

Chr2:47412411

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA021679

rs_267607930

4 SubmittersRCV000076666 RCV000772131 RCV001854337

NM_000251.3(MSH2):c.646A>G (p.Ile216Val)

SNV
Germline

Chr2:47412414

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021692

rs_63749936

5 SubmittersRCV000216132 RCV000541467 RCV003159097 RCV003997179

NM_000251.3(MSH2):c.652C>T (p.Gln218Ter)

SNV
Germline

Chr2:47412420

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA021710

rs_587779170

7 SubmittersRCV000076677 RCV001025372 RCV001264589 RCV001386603 RCV003452958

NM_000251.3(MSH2):c.672C>G (p.Ile224Met)

SNV
Germline

Chr2:47412440

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA021724

rs_587779171

5 SubmittersRCV000569759 RCV000662390 RCV000684803

NM_000251.3(MSH2):c.685A>T (p.Lys229Ter)

SNV
Germline

Chr2:47412453

Pathogenic

Lynch syndrome
Condition: not provided

Reviewed By Expert Panel

CA021947

rs_587779173

2 SubmittersRCV000076680 RCV004998196

NM_000251.3(MSH2):c.715C>T (p.Gln239Ter)

SNV
Germline

Chr2:47412483

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Reviewed By Expert Panel

CA022086

rs_63750488

7 SubmittersRCV000076689 RCV000410998 RCV000561407 RCV000629942 RCV001358384

NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)

SNV
Germline

Chr2:47412496

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022108

rs_63751455

15 SubmittersRCV000131412 RCV000411200 RCV000524419 RCV000479306 RCV000781566 RCV001357533 RCV006255327

NM_000251.3(MSH2):c.736A>T (p.Lys246Ter)

SNV
Germline

Chr2:47412504

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA022126

rs_63750881

1 SubmittersRCV000076696

NM_000251.3(MSH2):c.742A>G (p.Lys248Glu)

SNV
Germline

Chr2:47412510

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022149

rs_587779178

10 SubmittersRCV000235646 RCV000491084 RCV000630103 RCV002265598 RCV003389041 RCV003997180

NM_000251.3(MSH2):c.754C>T (p.Gln252Ter)

SNV
Germline

Chr2:47412522

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA022185

rs_63750347

4 SubmittersRCV000076700 RCV000491026 RCV000808434 RCV003452965

NM_000251.3(MSH2):c.782T>C (p.Met261Thr)

SNV
Germline

Chr2:47412550

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022248

rs_63749969

5 SubmittersRCV000539072 RCV001582562 RCV002408599 RCV003997182

NM_000251.3(MSH2):c.792+1G>A

SNV
Germline

Chr2:47412561

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA022273

rs_267607934

7 SubmittersRCV000076709 RCV001026957 RCV001233639 RCV001588899 RCV003452966

NM_000251.3(MSH2):c.792+5A>G

SNV
Germline

Chr2:47412565

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022283

rs_267607935

11 SubmittersRCV000129148 RCV000410638 RCV000440249 RCV000524421 RCV001355416 RCV003477473

NM_000251.3(MSH2):c.793-2A>C

SNV
Germline/somatic

Chr2:47414267

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA022304

rs_267607933

2 SubmittersRCV000076714

NM_000251.3(MSH2):c.806C>T (p.Ser269Leu)

SNV
Germline

Chr2:47414282

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA022333

rs_63750058

3 SubmittersRCV000822527 RCV002415568 RCV005357496

NM_000251.3(MSH2):c.82G>T (p.Glu28Ter)

SNV
Germline

Chr2:47403273

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA022387

rs_63751246

3 SubmittersRCV000076730 RCV000491146 RCV003452968

NM_000251.3(MSH2):c.842C>A (p.Ser281Ter)

SNV
Germline

Chr2:47414318

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA022416

rs_63749991

1 SubmittersRCV000076734

NM_000251.3(MSH2):c.859G>T (p.Gly287Ter)

SNV
Germline

Chr2:47414335

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA022437

rs_63750276

5 SubmittersRCV000076737 RCV000115545 RCV001053401 RCV002444540 RCV003452969

NM_000251.3(MSH2):c.862C>T (p.Gln288Ter)

SNV
Germline

Chr2:47414338

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Reviewed By Expert Panel

CA022450

rs_63750097

9 SubmittersRCV000076738 RCV000484173 RCV000528830 RCV001183048 RCV003452970 RCV005394328

NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)

SNV
Germline

Chr2:47414344

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA022458

rs_587779190

7 SubmittersRCV000076740 RCV000165329 RCV000763488 RCV001854340 RCV003452971 RCV004689446

NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)

SNV
Germline

Chr2:47414368

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Sigmoid colon cancer
Carcinoma of colon
Lynch syndrome 1

Reviewed By Expert Panel

CA022486

rs_63750934

9 SubmittersRCV000076744 RCV000478579 RCV000490887 RCV000629714 RCV000677887 RCV001357211 RCV003447488

NM_000251.3(MSH2):c.901A>T (p.Lys301Ter)

SNV
Germline/somatic

Chr2:47414377

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

Reviewed By Expert Panel

CA022518

rs_63749915

7 SubmittersRCV000076746 RCV001854341 RCV002371917 RCV003452974 RCV003144124 RCV006253778

NM_000251.3(MSH2):c.905T>A (p.Leu302Ter)

SNV
Germline

Chr2:47414381

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA022523

rs_63749914

5 SubmittersRCV000076747 RCV000412047 RCV001224865 RCV002444542

NM_000251.3(MSH2):c.913G>A (p.Ala305Thr)

SNV
Germline

Chr2:47414389

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, non-polyposis
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Breast and/or ovarian cancer
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA022539

rs_63751454

17 SubmittersRCV000076748 RCV000115547 RCV000148633 RCV000656876 RCV001084038 RCV001193245 RCV003492427 RCV004542749 RCV005246634

NM_000251.3(MSH2):c.929T>C (p.Leu310Pro)

SNV
Germline

Chr2:47414405

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome

Reviewed By Expert Panel

CA022549

rs_63750640

4 SubmittersRCV000076750 RCV000491370 RCV001052685 RCV005025128

NM_000251.3(MSH2):c.929T>G (p.Leu310Arg)

SNV
Germline

Chr2:47414405

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA022554

rs_63750640

3 SubmittersRCV000076751 RCV000567639 RCV000524912

NM_000251.3(MSH2):c.942+1G>T

SNV
Germline

Chr2:47414419

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Gastric cancer

Reviewed By Expert Panel

CA022570

rs_587779193

8 SubmittersRCV000076752 RCV000491583 RCV000816442 RCV003311677 RCV003452976 RCV005886123

NM_000251.3(MSH2):c.942+2T>G

SNV
Germline

Chr2:47414420

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA022580

rs_587779195

7 SubmittersRCV000076754 RCV000491479 RCV001050513 RCV001723651 RCV003452977

NM_000251.3(MSH2):c.942G>A (p.Gln314=)

SNV
Germline

Chr2:47414418

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA022591

rs_587779197

5 SubmittersRCV000076756 RCV003452978 RCV002444543

NM_000251.3(MSH2):c.943-1G>A

SNV
Germline

Chr2:47416295

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA022598

rs_12476364

4 SubmittersRCV000076757 RCV000532450 RCV002371918 RCV003452979

NM_000251.3(MSH2):c.943-1G>C

SNV
Germline

Chr2:47416295

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA022602

rs_12476364

7 SubmittersRCV000076758 RCV000491758 RCV000696831 RCV001531920 RCV002288573

NM_000251.3(MSH2):c.943-2A>G

SNV
Germline

Chr2:47416294

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Carcinoma of colon

Reviewed By Expert Panel

CA022606

rs_587779198

8 SubmittersRCV000076759 RCV000491601 RCV000663253 RCV000544929 RCV001280659 RCV001353928

NM_000251.3(MSH2):c.968C>G (p.Ser323Cys)

SNV
Germline

Chr2:47416321

Conflicting classifications of pathogenicity

Colorectal cancer, non-polyposis
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA022662

rs_63750732

9 SubmittersRCV000148634 RCV000222150 RCV000412467 RCV000480555 RCV000524426 RCV003997184 RCV006263656

NM_000251.3(MSH2):c.970C>T (p.Gln324Ter)

SNV
Germline

Chr2:47416323

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA022678

rs_63750502

7 SubmittersRCV000076766 RCV000201985 RCV001050003 RCV001019659 RCV003452980

NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)

SNV
Germline

Chr2:47403288

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Malignant tumor of breast
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022692

rs_63751107

13 SubmittersRCV000129083 RCV000236043 RCV000656871 RCV000627734 RCV000662483 RCV001354855 RCV002483125 RCV003997185

NM_000251.3(MSH2):c.97A>G (p.Thr33Ala)

SNV
Germline

Chr2:47403288

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Malignant glioma

Criteria Provided
Conflicting Classifications

CA022696

rs_63751107

9 SubmittersRCV000076773 RCV000480593 RCV000565059 RCV000684814 RCV001818242 RCV004776271

NM_000251.3(MSH2):c.989T>C (p.Leu330Pro)

SNV
Germline

Chr2:47416342

Pathogenic

Lynch syndrome
Colonic diverticula
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA022706

rs_63750630

4 SubmittersRCV000076775 RCV001554291 RCV005357497 RCV003593904

NM_000251.3(MSH2):c.997T>C (p.Cys333Arg)

SNV
Germline

Chr2:47416350

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA022717

rs_63750468

5 SubmittersRCV000076777 RCV000491354 RCV002280101 RCV003452982

NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)

SNV
Germline

Chr2:47416351

Pathogenic

Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA022722

rs_63750828

17 SubmittersRCV000076778 RCV000160579 RCV000216069 RCV000630153 RCV001535593 RCV002281913

NM_000535.7(PMS2):c.1144+2T>A

SNV
Germline

Chr7:5989798

Likely pathogenic

Lynch syndrome 4
Lynch syndrome

Reviewed By Expert Panel

CA009239

rs_267608158

3 SubmittersRCV000009822 RCV000076796

NM_000535.7(PMS2):c.1145-5C>T

SNV
Germline

Chr7:5987625

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009257

rs_267608157

4 SubmittersRCV001017451 RCV001414589 RCV005420542

NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)

SNV
Germline

Chr7:5987504

Pathogenic

Lynch syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Endometrial carcinoma
Hereditary nonpolyposis colon cancer
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Reviewed By Expert Panel

CA009431

rs_587778617

18 SubmittersRCV000076804 RCV000121843 RCV000219846 RCV000223405 RCV000627692 RCV000786880 RCV001353689 RCV001255553 RCV005042190

NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)

SNV
Germline

Chr7:6005918

Pathogenic/Likely pathogenic

Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA009592

rs_121434629

9 SubmittersRCV000076806 RCV000524431 RCV000584471 RCV001185073 RCV001798271 RCV003452984

NM_000535.7(PMS2):c.1463C>T (p.Ala488Val)

SNV
Germline

Chr7:5987302

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA009709

rs_587779328

8 SubmittersRCV000076811 RCV000221900 RCV000657046 RCV000684795

NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln)

SNV
Germline

Chr7:5987255

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Malignant tumor of breast
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009792

rs_368516768

12 SubmittersRCV000162805 RCV000524435 RCV000483703 RCV000780617 RCV001354515 RCV003997187 RCV003460718

NM_000535.7(PMS2):c.163+2T>C

SNV
Germline

Chr7:6005890

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009959

rs_587779329

4 SubmittersRCV000076817 RCV001723652 RCV002399465

NM_000535.7(PMS2):c.164-2A>G

SNV
Germline

Chr7:6004060

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA009971

rs_587779324

4 SubmittersRCV000076818 RCV003320559 RCV005401324

NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys)

SNV
Germline

Chr7:5987033

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA010199

rs_63750534

11 SubmittersRCV000662641 RCV000695037 RCV001181986 RCV001358575 RCV001539070 RCV003320560

NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)

SNV
Germline

Chr7:5987027

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 4

Reviewed By Expert Panel

CA010207

rs_267608169

12 SubmittersRCV000076824 RCV000129628 RCV000260402 RCV000524446 RCV002307391 RCV003452986

NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile)

SNV
Germline

Chr7:5987012

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA010216

rs_63750947

13 SubmittersRCV000216706 RCV000524448 RCV001529737 RCV003997188 RCV004595912 RCV005600647

NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)

SNV
Germline

Chr7:5986925

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA010345

rs_63750490

16 SubmittersRCV000076831 RCV000164595 RCV000216236 RCV000540895 RCV001258087 RCV001280569 RCV005646769

NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)

SNV
Germline

Chr7:5986838

Pathogenic

Lynch syndrome
Mismatch repair cancer syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 4

Reviewed By Expert Panel

CA010460

rs_63751422

13 SubmittersRCV000076835 RCV000148733 RCV000164116 RCV000223612 RCV000524452 RCV003323387 RCV003452988

NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)

SNV
Germline

Chr7:5986826

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Mismatch repair cancer syndrome 4
Lynch syndrome 1
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Reviewed By Expert Panel

CA010519

rs_201451115

26 SubmittersRCV000076836 RCV000128864 RCV000414304 RCV000507921 RCV000627727 RCV000709754 RCV002228187 RCV002288575 RCV005246635 RCV005394329

NM_000535.7(PMS2):c.1A>G (p.Met1Val)

SNV
Germline

Chr7:6009019

Likely pathogenic

Lynch syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Mismatch repair cancer syndrome 1
Mismatch repair cancer syndrome 4
PMS2-related disorder
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA010642

rs_587779333

23 SubmittersRCV000076838 RCV000144649 RCV000160894 RCV000410400 RCV000524456 RCV000564071 RCV001280543 RCV001293980 RCV001523838 RCV003982873 RCV006439628

NM_000535.7(PMS2):c.2007-1G>A

SNV
Germline

Chr7:5982992

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA010684

rs_267608170

4 SubmittersRCV000076841 RCV002415570 RCV003452989 RCV005089524

NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)

SNV
Germline

Chr7:5982885

Pathogenic/Likely pathogenic

Lynch syndrome
Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Breast and/or ovarian cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Breast-ovarian cancer, familial, susceptibility to, 1
PMS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA010854

rs_267608161

24 SubmittersRCV000076843 RCV000144654 RCV000115674 RCV000223542 RCV000524457 RCV002298464 RCV003149756 RCV003452990 RCV005394330 RCV005861047 RCV004742243

NM_000535.7(PMS2):c.2174+1G>A

SNV
Germline

Chr7:5982823

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
PMS2-related disorder
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Colon adenocarcinoma
Adrenocortical carcinoma, hereditary

Reviewed By Expert Panel

CA010965

rs_267608172

20 SubmittersRCV000076844 RCV000115677 RCV000218995 RCV000409361 RCV000539044 RCV003149757 RCV004742244 RCV005031560 RCV005357499 RCV005886124 RCV005886125

NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)

SNV
Germline

Chr7:5978622

Conflicting classifications of pathogenicity

Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
PMS2-related disorder
Hereditary breast ovarian cancer syndrome
Inherited polyposis and early onset colorectal cancer - germline testing

Criteria Provided
Conflicting Classifications

CA011133

rs_587779337

17 SubmittersRCV000076849 RCV000115679 RCV000212868 RCV000524463 RCV001253062 RCV002271400 RCV003398663 RCV004764762 RCV006277704

NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)

SNV
Germline

Chr7:5977638

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Ovarian cancer
PMS2-related disorder
Lynch syndrome
Hereditary cancer
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011412

rs_149202766

15 SubmittersRCV000162455 RCV000215298 RCV000524466 RCV000590372 RCV000764720 RCV003153358 RCV004742245 RCV005357500 RCV005234974 RCV005420543

NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)

SNV
Germline

Chr7:5977589

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Lynch syndrome 4

Reviewed By Expert Panel

CA011500

rs_587779338

15 SubmittersRCV000076859 RCV000130249 RCV000485694 RCV000525929 RCV000764719 RCV001193971 RCV003452993

NM_000535.7(PMS2):c.251-2A>G

SNV
Germline

Chr7:6003794

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA011625

rs_587779340

1 SubmittersRCV000076861

NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)

SNV
Germline

Chr7:5999199

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Breast and/or ovarian cancer
Lynch syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA012420

rs_587779342

19 SubmittersRCV000164809 RCV000409570 RCV000485945 RCV000524477 RCV001357098 RCV003149758 RCV003997191 RCV004782047

NM_000535.7(PMS2):c.697C>T (p.Gln233Ter)

SNV
Germline

Chr7:5999116

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Mismatch repair cancer syndrome 4
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA012564

rs_587779343

18 SubmittersRCV000076881 RCV000115701 RCV000212848 RCV000524479 RCV001799617 RCV005237510 RCV005357502 RCV006439629

NM_000535.7(PMS2):c.703C>T (p.Gln235Ter)

SNV
Germline

Chr7:5999110

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Reviewed By Expert Panel

CA012575

rs_63750261

7 SubmittersRCV000076882 RCV000132294 RCV001762199 RCV001778704 RCV001854344 RCV002288576

NM_000535.7(PMS2):c.705+1G>T

SNV
Germline

Chr7:5999107

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Reviewed By Expert Panel

CA012596

rs_267608147

4 SubmittersRCV000076883 RCV001025973 RCV001380258 RCV003452995

NM_000535.7(PMS2):c.804-10T>G

SNV
Germline

Chr7:5995643

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA012877

rs_267608151

5 SubmittersRCV000589847 RCV000630112 RCV002408601 RCV003452997 RCV005237511

NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)

SNV
Germline

Chr7:5995534

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome 1
Hereditary breast ovarian cancer syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA013203

rs_267608153

16 SubmittersRCV000076896 RCV000215563 RCV000255696 RCV000524483 RCV000778110 RCV001804828 RCV004689447 RCV005862971 RCV005237512

NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)

SNV
Germline

Chr7:5992018

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, non-polyposis
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Malignant tumor of breast
Gastric cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Reviewed By Expert Panel

CA013335

rs_200640585

21 SubmittersRCV000076901 RCV000115711 RCV000148734 RCV000212858 RCV000524484 RCV000576503 RCV000763587 RCV001354630 RCV003162501 RCV005042191

NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)

SNV
Germline

Chr7:5992012

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA013352

rs_143277125

10 SubmittersRCV000076902 RCV000570620 RCV000686600 RCV001536747 RCV003325181 RCV005394331 RCV005431463

NM_000535.7(PMS2):c.989-2A>G

SNV
Germline

Chr7:5989957

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 4
Condition: not provided
Lynch syndrome 4
Lung cancer

Reviewed By Expert Panel

CA013438

rs_587779347

13 SubmittersRCV000076905 RCV000132347 RCV000531809 RCV001523837 RCV001556367 RCV003466969 RCV005886127

NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln)

SNV
Germline

Chr2:47803450

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
MSH6-related disorder
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA011934

rs_398123230

16 SubmittersRCV000131252 RCV000168135 RCV000217757 RCV000679234 RCV001083147 RCV001356423 RCV004739339 RCV005420544

NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)

SNV
Germline/somatic

Chr2:47804948

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Carcinoma of colon
Lynch syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA013011

rs_398123231

12 SubmittersRCV000078315 RCV000456684 RCV000491158 RCV001249964 RCV001354656 RCV002272057 RCV002265599 RCV003453005 RCV003466970

NM_000535.7(PMS2):c.714C>A (p.Ser238Arg)

SNV
Germline

Chr7:5997415

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012654

rs_151251082

14 SubmittersRCV000079111 RCV000129639 RCV000229467 RCV000662416 RCV000708994

NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg)

SNV
Germline

Chr2:47799604

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA008929

rs_587779778

6 SubmittersRCV000114750 RCV000129248 RCV003593911 RCV005359054 RCV005600659 RCV005252760

NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro)

SNV
Germline

Chr2:47801146

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided

Reviewed By Expert Panel

CA011702

rs_587779254

7 SubmittersRCV000114751 RCV000223291 RCV001216258 RCV003453034 RCV006451938

NM_000251.3(MSH2):c.874A>T (p.Thr292Ser)

SNV
Germline

Chr2:47414350

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022468

rs_104895022

7 SubmittersRCV000115546 RCV000114837 RCV000699802 RCV001800400 RCV003997208

NM_000249.4(MLH1):c.739T>G (p.Ser247Ala)

SNV
Germline

Chr3:37014493

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA011868

rs_63750948

7 SubmittersRCV000114847 RCV000629785 RCV001026384 RCV003320096 RCV003997209 RCV005394380

NM_000179.3(MSH6):c.1028C>T (p.Pro343Leu)

SNV
Germline

Chr2:47799011

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA007823

rs_548898238

6 SubmittersRCV000115366 RCV000212641 RCV000469621 RCV004566998 RCV004806063

NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile)

SNV
Germline

Chr2:47799089

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA008045

rs_375974046

13 SubmittersRCV000115368 RCV000210148 RCV000212645 RCV000415687 RCV000528613 RCV000662663 RCV001193101 RCV004566999

NM_000179.3(MSH6):c.1168G>A (p.Asp390Asn)

SNV
Germline/somatic

Chr2:47799151

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA008202

rs_147737737

9 SubmittersRCV000552028 RCV000570684 RCV000758608 RCV000985821 RCV002267855

NM_000179.3(MSH6):c.1189T>C (p.Tyr397His)

SNV
Germline

Chr2:47799172

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA008268

rs_587779913

7 SubmittersRCV000115371 RCV000212648 RCV000457819 RCV003467039 RCV003997233 RCV005359077

NM_000179.3(MSH6):c.1241G>A (p.Trp414Ter)

SNV
Germline

Chr2:47799224

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA008355

rs_587779914

6 SubmittersRCV000115372 RCV000491836 RCV000524659 RCV000506619 RCV004019610

NM_000179.3(MSH6):c.1561A>T (p.Thr521Ser)

SNV
Germline

Chr2:47799544

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA008790

rs_587779916

6 SubmittersRCV000115377 RCV000216113 RCV000473285 RCV003997234 RCV003493444

NM_000179.3(MSH6):c.1646C>A (p.Ser549Tyr)

SNV
Germline

Chr2:47799629

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA008999

rs_200447622

4 SubmittersRCV000575160 RCV000546737 RCV003997235 RCV004794362

NM_000179.3(MSH6):c.1652G>A (p.Gly551Asp)

SNV
Germline

Chr2:47799635

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009006

rs_587779917

9 SubmittersRCV000115380 RCV000216184 RCV000473749 RCV000662991 RCV003997236 RCV004567000

NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu)

SNV
Germline

Chr2:47799729

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
not specified
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009115

rs_201518545

13 SubmittersRCV000115382 RCV000230963 RCV000235184 RCV000409045 RCV001192457 RCV003460812 RCV005025176

NM_000179.3(MSH6):c.1786T>A (p.Phe596Ile)

SNV
Germline

Chr2:47799769

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009191

rs_587779918

9 SubmittersRCV000115383 RCV000233835 RCV000409692 RCV000562745 RCV001800402 RCV003997237

NM_000179.3(MSH6):c.1793A>G (p.Lys598Arg)

SNV
Germline

Chr2:47799776

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009214

rs_587779919

9 SubmittersRCV000115384 RCV000168326 RCV000565738 RCV000663315 RCV000759845 RCV003997238

NM_000179.3(MSH6):c.188C>A (p.Ser63Tyr)

SNV
Germline

Chr2:47783421

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009399

rs_587779920

8 SubmittersRCV000115385 RCV000477543 RCV000663251 RCV000771299 RCV003460813

NM_000179.3(MSH6):c.190G>C (p.Ala64Pro)

SNV
Germline

Chr2:47783423

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
MSH6-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009439

rs_587779921

7 SubmittersRCV000214011 RCV000759850 RCV001041141 RCV004528799 RCV003997239

NM_000179.3(MSH6):c.2171C>G (p.Ala724Gly)

SNV
Germline

Chr2:47800154

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009795

rs_587779922

5 SubmittersRCV000115387 RCV000219041 RCV000630209 RCV003997240

NM_000179.3(MSH6):c.2173A>G (p.Ile725Val)

SNV
Germline

Chr2:47800156

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome 5
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA009801

rs_148898662

11 SubmittersRCV000115388 RCV000204867 RCV000212660 RCV000781575 RCV000986720 RCV001798329

NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys)

SNV
Germline/somatic

Chr2:47800402

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Lynch syndrome
Lynch-like syndrome
Endometrial carcinoma
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA010227

rs_587779923

15 SubmittersRCV000199520 RCV000409470 RCV000491756 RCV000656895 RCV000765687 RCV000708875 RCV001249960 RCV004567001 RCV005031603

NM_000179.3(MSH6):c.242C>T (p.Ala81Val)

SNV
Germline

Chr2:47783475

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA010271

rs_587779924

13 SubmittersRCV000115391 RCV000412014 RCV000477204 RCV000588221 RCV003467040 RCV005394381 RCV006452435

NM_000179.3(MSH6):c.2511C>G (p.His837Gln)

SNV
Germline

Chr2:47800494

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
not specified
Malignant tumor of breast
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010333

rs_587779925

12 SubmittersRCV000115392 RCV000195931 RCV000212667 RCV000412127 RCV001193702 RCV001354925 RCV003460814 RCV003997241

NM_000179.3(MSH6):c.2712T>G (p.Asp904Glu)

SNV
Germline

Chr2:47800695

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA010773

rs_374401174

6 SubmittersRCV000115394 RCV000535809 RCV000583327 RCV003997242 RCV004567002

NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr)

SNV
Germline

Chr2:47800763

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA010911

rs_587779926

12 SubmittersRCV000115395 RCV000206053 RCV000212671 RCV000587183 RCV001253566 RCV003460815 RCV003997243 RCV005031604

NM_000179.3(MSH6):c.2951A>C (p.Asn984Thr)

SNV
Germline

Chr2:47800934

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA011183

rs_587779927

6 SubmittersRCV000115396 RCV000204834 RCV000409319 RCV001017633

NM_000179.3(MSH6):c.2960C>T (p.Thr987Ile)

SNV
Germline

Chr2:47800943

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011210

rs_587779928

9 SubmittersRCV000115397 RCV000221869 RCV000558179 RCV000662547 RCV001731378 RCV003997244

NM_000179.3(MSH6):c.3142C>T (p.Gln1048Ter)

SNV
Germline

Chr2:47801125

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA011628

rs_200492211

8 SubmittersRCV000202056 RCV000490956 RCV000500240 RCV000544323 RCV002288592

NM_000179.3(MSH6):c.3191C>T (p.Ala1064Val)

SNV
Germline

Chr2:47803438

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA011826

rs_369042519

7 SubmittersRCV000216009 RCV000691203 RCV000759861 RCV003997246 RCV004567003

NM_000179.3(MSH6):c.3232G>C (p.Val1078Leu)

SNV
Germline

Chr2:47803479

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA012092

rs_587779932

11 SubmittersRCV000168205 RCV000567226 RCV000656897 RCV000662609 RCV003997247 RCV004567004 RCV006273516

NM_000179.3(MSH6):c.3260C>A (p.Pro1087His)

SNV
Germline

Chr2:47803507

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA012253

rs_63750753

18 SubmittersRCV000115410 RCV000121584 RCV000168382 RCV000589544 RCV001787917 RCV001808341 RCV003997248 RCV004528800

NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)

SNV
Germline

Chr2:47803530

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Endometrial carcinoma
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA012434

rs_376243329

20 SubmittersRCV000115413 RCV000121585 RCV000204658 RCV000412360 RCV000586502 RCV001080360 RCV001798330 RCV003460816 RCV005394382

NM_000179.3(MSH6):c.335A>G (p.Asn112Ser)

SNV
Germline

Chr2:47791001

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Lynch syndrome
Inherited prostate cancer

Criteria Provided
Conflicting Classifications

CA012677

rs_587779934

16 SubmittersRCV000115414 RCV000122964 RCV000212629 RCV000524173 RCV000656887 RCV001355172 RCV003997249 RCV006605225

NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp)

SNV
Germline

Chr2:47804956

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA013090

rs_587779935

6 SubmittersRCV000115416 RCV000212684 RCV000819197 RCV003453035 RCV005359078

NM_000179.3(MSH6):c.3647-6T>A

SNV
Germline

Chr2:47806198

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome
MSH6-related disorder
Uterine corpus endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA013707

rs_182871847

18 SubmittersRCV000115418 RCV000579665 RCV000662552 RCV000587059 RCV001081821 RCV001357466 RCV003997250 RCV004739399 RCV005887903

NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)

SNV
Germline

Chr2:47806284

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Carcinoma of colon
Lynch syndrome 5
Condition: not provided
bilateral breast cancer
Hereditary nonpolyposis colorectal neoplasms
not specified
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA014099

rs_147453999

22 SubmittersRCV000115419 RCV000122966 RCV000212687 RCV000659895 RCV000588959 RCV001005027 RCV001081954 RCV001358662 RCV004584193

NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)

SNV
Germline

Chr2:47806315

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 5
Malignant tumor of breast
Lynch syndrome
Endometrial carcinoma
MSH6-related disorder
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA014183

rs_202066386

20 SubmittersRCV000115421 RCV000196523 RCV000212688 RCV000656901 RCV001139791 RCV001355140 RCV003997251 RCV003467041 RCV004739400 RCV005031605 RCV006449995

NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)

SNV
Germline

Chr2:47806345

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA014284

rs_147852216

19 SubmittersRCV000115423 RCV000121588 RCV000662548 RCV000656903 RCV000764435 RCV001079217 RCV005229905

NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr)

SNV
Germline

Chr2:47806474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA014456

rs_150990541

13 SubmittersRCV000115424 RCV000119134 RCV000410495 RCV000656904 RCV001194392 RCV001354737 RCV004567006

NM_000179.3(MSH6):c.644T>G (p.Val215Gly)

SNV
Germline

Chr2:47798627

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016108

rs_587779946

6 SubmittersRCV000115437 RCV001071512 RCV001190341 RCV003467043 RCV003997254

NM_000179.3(MSH6):c.682G>A (p.Glu228Lys)

SNV
Germline

Chr2:47798665

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA016246

rs_587779947

9 SubmittersRCV000115441 RCV000410116 RCV000466432 RCV000566072 RCV003467044 RCV003997255 RCV005394383

NM_000179.3(MSH6):c.817G>A (p.Gly273Arg)

SNV
Germline

Chr2:47798800

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016493

rs_587779948

5 SubmittersRCV000115443 RCV000212634 RCV000685169 RCV003997256

NM_000179.3(MSH6):c.821G>A (p.Ser274Asn)

SNV
Germline

Chr2:47798804

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016514

rs_587779949

7 SubmittersRCV000115444 RCV000222274 RCV000554997 RCV004567007 RCV003997257

NM_000179.3(MSH6):c.926C>G (p.Ser309Cys)

SNV
Germline

Chr2:47798909

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Ovarian cancer
MSH6-related disorder
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA016656

rs_544222338

13 SubmittersRCV000115446 RCV000212637 RCV000656891 RCV001089225 RCV001353732 RCV003153368 RCV004529928 RCV005420546

NM_000249.4(MLH1):c.1136A>T (p.Tyr379Phe)

SNV
Germline

Chr3:37025734

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
MLH1-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004439

rs_143009528

9 SubmittersRCV000115451 RCV000212530 RCV001063775 RCV002265606 RCV003407496 RCV003997258

NM_000249.4(MLH1):c.1148T>C (p.Met383Thr)

SNV
Germline

Chr3:37025746

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian cancer
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004469

rs_141344760

13 SubmittersRCV000115452 RCV000148622 RCV000212532 RCV000459634 RCV000656861 RCV000662617 RCV003997259

NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn)

SNV
Germline

Chr3:37025800

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004704

rs_587779951

10 SubmittersRCV000115454 RCV000222306 RCV000663036 RCV000813295 RCV001824610 RCV003997260

NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp)

SNV
Germline

Chr3:37025942

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA005039

rs_587779952

15 SubmittersRCV000115457 RCV000212536 RCV000412424 RCV000545514 RCV002505032 RCV003997261

NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)

SNV
Germline

Chr3:37025977

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA005155

rs_202038499

17 SubmittersRCV000115459 RCV000196112 RCV000254663 RCV000524234 RCV000662461 RCV001354082 RCV004748582

NM_000249.4(MLH1):c.1558+5G>A

SNV
Germline/somatic

Chr3:37028937

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Breast and/or ovarian cancer
Malignant lymphoma, large B-cell, diffuse
Colon adenocarcinoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA005861

rs_199935667

16 SubmittersRCV000115461 RCV000515436 RCV000590226 RCV000663109 RCV000758646 RCV001086042 RCV001175375 RCV003149796 RCV005887905 RCV005887904 RCV005887906 RCV005887907 RCV005364994

NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg)

SNV
Germline

Chr3:37040264

Conflicting classifications of pathogenicity

not specified
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA006196

rs_587779954

13 SubmittersRCV000115463 RCV000211532 RCV000566461 RCV000629933 RCV000625759 RCV000662406 RCV000759809

NM_000249.4(MLH1):c.170A>C (p.Lys57Thr)

SNV
Germline

Chr3:36996672

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA006457

rs_587779955

6 SubmittersRCV000115464 RCV000212514 RCV000816365 RCV003997262 RCV005246645

NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)

SNV
Germline

Chr3:37042330

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA006520

rs_56185292

17 SubmittersRCV000115465 RCV000121362 RCV000226023 RCV000411289 RCV000515241 RCV000656864 RCV003997263

NM_000249.4(MLH1):c.1834G>A (p.Val612Ile)

SNV
Germline

Chr3:37047621

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA007063

rs_587779956

11 SubmittersRCV000470919 RCV000568759 RCV000590125 RCV001260257 RCV003474713 RCV003997264

NM_000249.4(MLH1):c.945C>G (p.His315Gln)

SNV
Germline

Chr3:37020370

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified

Criteria Provided
Conflicting Classifications

CA013235

rs_587779959

12 SubmittersRCV000115488 RCV000122978 RCV000524323 RCV000568893 RCV001253192 RCV001553749

NM_000251.3(MSH2):c.-3G>C

SNV
Germline

Chr2:47403189

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA021130

rs_587779960

13 SubmittersRCV000115491 RCV000410255 RCV000589085 RCV001357931 RCV001854552 RCV001818270 RCV004529929

NM_000251.3(MSH2):c.1027A>G (p.Asn343Asp)

SNV
Germline

Chr2:47416380

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016891

rs_587779961

7 SubmittersRCV000115492 RCV000467692 RCV000562717 RCV004567008 RCV004806064

NM_000251.3(MSH2):c.1122G>C (p.Gln374His)

SNV
Germline

Chr2:47429787

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017281

rs_370378607

5 SubmittersRCV000115493 RCV000122979 RCV000580948 RCV003997266

NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)

SNV
Germline

Chr2:47429847

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Lynch syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA017419

rs_374135434

13 SubmittersRCV000115496 RCV000212598 RCV000477595 RCV000663103 RCV001818271 RCV003997267 RCV005394384

NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys)

SNV
Germline

Chr2:47429869

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017489

rs_63751412

9 SubmittersRCV000115497 RCV000206195 RCV000574856 RCV000663163 RCV001193851 RCV003997268

NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro)

SNV
Germline

Chr2:47429903

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA017617

rs_587779962

9 SubmittersRCV000115499 RCV000212601 RCV000532709 RCV000515341 RCV003997269 RCV003467045

NM_000251.3(MSH2):c.1505A>G (p.Asp502Gly)

SNV
Germline

Chr2:47463149

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA018475

rs_148192104

10 SubmittersRCV000115502 RCV000222010 RCV000475133 RCV001527007 RCV003460819 RCV003997270 RCV004529930

NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln)

SNV
Germline

Chr2:47466729

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Carcinoma of colon
Lynch syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA018669

rs_199744440

9 SubmittersRCV000115503 RCV000491225 RCV000463961 RCV000662996 RCV001354840 RCV003997271 RCV005025177

NM_000251.3(MSH2):c.1601G>A (p.Arg534His)

SNV
Germline

Chr2:47466748

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA018712

rs_587778523

17 SubmittersRCV000121559 RCV000122981 RCV000492001 RCV000656878 RCV000662395 RCV003997272 RCV004734649 RCV005394385

NM_000251.3(MSH2):c.1709A>G (p.Tyr570Cys)

SNV
Germline

Chr2:47471012

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019092

rs_587779963

7 SubmittersRCV000115506 RCV000555354 RCV000574691 RCV003323401 RCV003467046 RCV003997273

NM_000251.3(MSH2):c.1724A>G (p.Asp575Gly)

SNV
Germline

Chr2:47471027

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA019119

rs_370330868

10 SubmittersRCV000115507 RCV000198150 RCV000679295 RCV000708833 RCV001193892

NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)

SNV
Germline

Chr2:47475112

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Carcinoma of colon
not specified
MSH2-related disorder
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA019432

rs_587779965

14 SubmittersRCV000115512 RCV000212611 RCV000205979 RCV000411841 RCV001355718 RCV001194001 RCV004734650 RCV005438355

NM_000251.3(MSH2):c.2554G>C (p.Glu852Gln)

SNV
Germline

Chr2:47480791

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020723

rs_587779966

5 SubmittersRCV000115520 RCV000196855 RCV000221197 RCV003997274

NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln)

SNV
Germline

Chr2:47482930

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020939

rs_587779967

9 SubmittersRCV000469769 RCV000583830 RCV000662933 RCV000759829 RCV003997275

NM_000251.3(MSH2):c.2798C>T (p.Thr933Ile)

SNV
Germline

Chr2:47482942

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020953

rs_587779968

9 SubmittersRCV000196057 RCV000216013 RCV000588848 RCV003993805 RCV005420547

NM_000251.3(MSH2):c.2801C>T (p.Thr934Met)

SNV
Germline

Chr2:47482945

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
not specified
Carcinoma of colon
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020959

rs_587779969

13 SubmittersRCV000115524 RCV000212622 RCV000986691 RCV001086842 RCV001194031 RCV001357791 RCV003997276

NM_000251.3(MSH2):c.328A>C (p.Lys110Gln)

SNV
Germline

Chr2:47408517

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021018

rs_587779970

13 SubmittersRCV000115526 RCV000475276 RCV000567258 RCV001269195 RCV003467047 RCV003997277

NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys)

SNV
Germline

Chr2:47408551

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021046

rs_587779971

11 SubmittersRCV000115527 RCV000220764 RCV000226077 RCV001257467 RCV003387764 RCV003997278

NM_000251.3(MSH2):c.382C>G (p.Leu128Val)

SNV
Germline

Chr2:47410109

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Endometrial carcinoma
Condition: not provided
Breast and/or ovarian cancer
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA021100

rs_145649774

17 SubmittersRCV000115528 RCV000195415 RCV000212583 RCV000524406 RCV000986649 RCV001353804 RCV001719858 RCV003492474 RCV004700420

NM_000251.3(MSH2):c.386C>T (p.Ser129Phe)

SNV
Germline

Chr2:47410113

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021109

rs_587779972

5 SubmittersRCV000115529 RCV001854553 RCV002354293 RCV004567009

NM_000251.3(MSH2):c.403C>T (p.Leu135Phe)

SNV
Germline

Chr2:47410130

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA021136

rs_193096019

12 SubmittersRCV000115530 RCV000199902 RCV000217044 RCV000411543 RCV001175574 RCV003997279 RCV004734651

NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)

SNV
Germline

Chr2:47410334

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021564

rs_587779973

9 SubmittersRCV000115536 RCV000221014 RCV000409174 RCV000472250 RCV003997280 RCV005394386

NM_000251.3(MSH2):c.610G>A (p.Gly204Arg)

SNV
Germline

Chr2:47410337

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021573

rs_63750574

10 SubmittersRCV000115537 RCV000196378 RCV000215932 RCV000411245 RCV002505033 RCV003997281

NM_000251.3(MSH2):c.709A>G (p.Ile237Val)

SNV
Germline

Chr2:47412477

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022070

rs_63751307

5 SubmittersRCV000115540 RCV000543104 RCV000567353 RCV003997282

NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)

SNV
Germline

Chr2:47403261

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Lynch syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA022076

rs_587779976

9 SubmittersRCV000115541 RCV000772129 RCV002515795 RCV003479007 RCV003453042 RCV004017400 RCV005025178

NM_000251.3(MSH2):c.845A>G (p.Asp282Gly)

SNV
Germline

Chr2:47414321

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA022423

rs_587779978

6 SubmittersRCV000115544 RCV000212593 RCV000472973 RCV000663090 RCV001193849

NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)

SNV
Germline/somatic

Chr7:5989940

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
PMS2-related disorder
Hereditary cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA009076

rs_200513014

28 SubmittersRCV000115647 RCV000121835 RCV000415644 RCV000586586 RCV001080700 RCV001249992 RCV001354576 RCV001798333 RCV003389688 RCV003492485 RCV004691753

NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp)

SNV
Germline

Chr7:5989903

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009125

rs_150515238

7 SubmittersRCV000115648 RCV000411537 RCV000458229 RCV000565848 RCV003997283

NM_000535.7(PMS2):c.1096G>C (p.Asp366His)

SNV
Germline

Chr7:5989848

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA009190

rs_141769057

15 SubmittersRCV000115649 RCV000220170 RCV000586764 RCV000590932 RCV001085405 RCV003315638 RCV004742252

NM_000535.7(PMS2):c.1169C>T (p.Ala390Val)

SNV
Germline

Chr7:5987596

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
not specified
Lynch syndrome 4
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA009271

rs_587780039

10 SubmittersRCV000115651 RCV000212859 RCV000229947 RCV001030722 RCV001199850 RCV003467050 RCV003997284 RCV003421993

NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr)

SNV
Germline

Chr7:5987525

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 4
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA009404

rs_370752614

13 SubmittersRCV000123073 RCV000217417 RCV000586084 RCV000855654 RCV003460820 RCV003997286 RCV004742253

NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys)

SNV
Germline

Chr7:5987486

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
PMS2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA009466

rs_376042544

11 SubmittersRCV000115655 RCV000228417 RCV000565134 RCV003467051 RCV003415890 RCV006273517

NM_000535.7(PMS2):c.1477G>A (p.Asp493Asn)

SNV
Germline

Chr7:5987288

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009738

rs_148642064

6 SubmittersRCV000115658 RCV000123080 RCV000583059 RCV003460821

NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)

SNV
Germline

Chr7:5987275

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 4
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA009765

rs_199739859

21 SubmittersRCV000115659 RCV000123081 RCV000121849 RCV000656948 RCV000663092 RCV001354802

NM_000535.7(PMS2):c.1501G>A (p.Val501Met)

SNV
Germline

Chr7:5987264

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Hereditary cancer
PMS2-related disorder
Lynch syndrome 4
Inherited polyposis and early onset colorectal cancer - germline testing
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009786

rs_540287433

13 SubmittersRCV000115660 RCV000227751 RCV000588840 RCV001530922 RCV003492486 RCV004742254 RCV005600674 RCV005055069 RCV005359084

NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)

SNV
Germline

Chr7:5987198

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Hereditary nonpolyposis colon cancer
Breast and/or ovarian cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA009875

rs_63751132

19 SubmittersRCV000115661 RCV000121851 RCV000662627 RCV000656949 RCV001082540 RCV001357983 RCV002279936 RCV003149798 RCV003389689

NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln)

SNV
Germline

Chr7:5986882

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010408

rs_587780044

9 SubmittersRCV000115667 RCV000214212 RCV000559426 RCV001420821 RCV004567012 RCV003997287

NM_000535.7(PMS2):c.1937G>T (p.Arg646Met)

SNV
Germline

Chr7:5986828

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA010512

rs_372341850

14 SubmittersRCV000115668 RCV000195978 RCV000212864 RCV001844040 RCV003997288 RCV004567013 RCV005862982

NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys)

SNV
Germline

Chr7:5986766

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Familial cancer of breast
Lynch syndrome 4
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA010622

rs_587780045

15 SubmittersRCV000115669 RCV000468280 RCV000588762 RCV002281936 RCV003322597 RCV003467052 RCV003997289 RCV004742257

NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)

SNV
Germline

Chr7:5982986

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome 4
Breast and/or ovarian cancer
Lynch syndrome
Mismatch repair cancer syndrome 4
Hereditary breast ovarian cancer syndrome
Cancer or benign tumor

Criteria Provided
Conflicting Classifications

CA010720

rs_587780046

29 SubmittersRCV000115670 RCV000144642 RCV000200451 RCV000212865 RCV000488189 RCV000515168 RCV000987820 RCV003149799 RCV003483476 RCV004760379 RCV005625292

NM_000535.7(PMS2):c.2035A>G (p.Ile679Val)

SNV
Germline

Chr7:5982963

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
not specified

Criteria Provided
Conflicting Classifications

CA010735

rs_587780047

8 SubmittersRCV000115671 RCV000212866 RCV000547118 RCV004567014 RCV005229908

NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)

SNV
Germline

Chr7:5982890

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided
not specified
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010829

rs_370196722

16 SubmittersRCV000115673 RCV000456314 RCV000662645 RCV000587414 RCV000855604 RCV002505034 RCV005359085

NM_000535.7(PMS2):c.2174+6T>C

SNV
Germline

Chr7:5982818

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA010975

rs_587780050

10 SubmittersRCV000225951 RCV000589942 RCV002257406 RCV002490775 RCV005359086 RCV005600675

NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly)

SNV
Germline

Chr7:5977745

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011199

rs_587780052

12 SubmittersRCV000115681 RCV000235199 RCV000457397 RCV001262165

NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)

SNV
Germline

Chr7:5977683

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA011325

rs_143340522

19 SubmittersRCV000115684 RCV000206341 RCV000212871 RCV000411108 RCV000515369 RCV000759201 RCV001355417 RCV003149800 RCV003415891

NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)

SNV
Germline

Chr7:5977596

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Ovarian cancer
Hereditary cancer
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011485

rs_375968016

17 SubmittersRCV000115687 RCV000196074 RCV000212874 RCV000656952 RCV003153372 RCV003492487 RCV003467055 RCV005359087

NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)

SNV
Germline

Chr7:5973465

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary cancer-predisposing syndrome
PMS2-related disorder
Hereditary nonpolyposis colon cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA048801

rs_587780057

7 SubmittersRCV000987818 RCV002256045 RCV004742258 RCV004700421 RCV006259018

NM_000535.7(PMS2):c.2T>C (p.Met1Thr)

SNV
Germline

Chr7:6009018

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Gastric cancer
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA011813

rs_587780059

11 SubmittersRCV000115692 RCV000461697 RCV000574743 RCV000662846 RCV001731380 RCV003162538 RCV004556719

NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)

SNV
Germline

Chr7:6003724

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
PMS2-related disorder
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA011828

rs_188006077

11 SubmittersRCV000115693 RCV000465201 RCV000586637 RCV003467056 RCV004742259 RCV004806065 RCV005394388 RCV005237549

NM_000535.7(PMS2):c.354-5C>G

SNV
Germline

Chr7:6002641

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA011959

rs_200591010

9 SubmittersRCV000115694 RCV000212841 RCV000200031 RCV001089084 RCV001174967 RCV001798336

NM_000535.7(PMS2):c.475G>A (p.Val159Met)

SNV
Germline

Chr7:6002515

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome 4
Carcinoma of colon
not specified
PMS2-related disorder
Lynch syndrome
Hereditary cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA012132

rs_142416537

19 SubmittersRCV000115696 RCV000123087 RCV000235195 RCV000765968 RCV000987848 RCV001355954 RCV002465515 RCV003952550 RCV003997290 RCV004700422 RCV005042215

NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)

SNV
Germline

Chr7:5999193

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Polyp of colon
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Breast and/or ovarian cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA012442

rs_374704824

19 SubmittersRCV000115699 RCV000123090 RCV000148736 RCV000212845 RCV000757678 RCV001079691 RCV000987846 RCV001798337 RCV003407497

NM_000535.7(PMS2):c.682G>A (p.Gly228Ser)

SNV
Germline

Chr7:5999131

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
not specified
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012509

rs_376258383

14 SubmittersRCV000115700 RCV000212847 RCV000472958 RCV000663188 RCV001193815 RCV003492488 RCV005359088

NM_000535.7(PMS2):c.710A>T (p.Gln237Leu)

SNV
Germline

Chr7:5997419

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012644

rs_587780061

12 SubmittersRCV000115702 RCV000226619 RCV000212850 RCV000662456 RCV000765963 RCV004806066

NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)

SNV
Germline

Chr7:5995614

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA012937

rs_587780062

20 SubmittersRCV000115704 RCV000216292 RCV000552808 RCV000709755 RCV000763589 RCV001264438 RCV003997292 RCV005042216

NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)

SNV
Germline

Chr7:5995580

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome
Breast and/or ovarian cancer
Lynch syndrome
Mismatch repair cancer syndrome 4
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA013022

rs_116788608

24 SubmittersRCV000115706 RCV000121861 RCV000144656 RCV000197094 RCV000409948 RCV000588331 RCV000765960 RCV000708992 RCV001798338 RCV003326121 RCV004742260

NM_000535.7(PMS2):c.880C>T (p.Arg294Trp)

SNV
Germline

Chr7:5995557

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
PMS2-related disorder
Lynch syndrome 4
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA013136

rs_563433235

9 SubmittersRCV000115708 RCV000212854 RCV000168085 RCV003407498 RCV003315640 RCV003997293 RCV006273519

NM_000535.7(PMS2):c.916G>A (p.Val306Met)

SNV
Germline

Chr7:5992045

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome 4
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA013247

rs_587780063

10 SubmittersRCV000115710 RCV000469956 RCV000656943 RCV001093686 RCV003460827 RCV003997295 RCV004742261

NM_000535.7(PMS2):c.989-1G>T

SNV
Germline

Chr7:5989956

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA013429

rs_587780064

10 SubmittersRCV000115713 RCV000563759 RCV000697325 RCV001258088 RCV001804845 RCV003997296

NM_002354.3(EPCAM):c.267G>C (p.Gln89His)

SNV
Germline

Chr2:47373890

Conflicting classifications of pathogenicity

not specified
Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
EPCAM-related disorder

Criteria Provided
Conflicting Classifications

CA287877

rs_146480420

13 SubmittersRCV000115770 RCV000123185 RCV000589651 RCV000664266 RCV004751265

NM_002878.4(RAD51D):c.493C>T (p.Arg165Trp)

SNV
Germline

Chr17:35106469

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 4
Lynch syndrome 1
not specified
Breast and/or ovarian cancer
Familial ovarian cancer
Anaplastic/large cell medulloblastoma

Criteria Provided
Conflicting Classifications

CA287983

rs_544654228

18 SubmittersRCV000115817 RCV000212962 RCV000234729 RCV000786005 RCV000781805 RCV003492495 RCV005600677 RCV006454654

NM_000179.3(MSH6):c.1367G>A (p.Trp456Ter)

SNV
Germline

Chr2:47799350

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008538

rs_587780538

6 SubmittersRCV000519222 RCV000491356 RCV002514591 RCV003453048 RCV004806067

NM_000179.3(MSH6):c.3173-10C>T

SNV
Germline

Chr2:47803410

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA011755

rs_587780559

8 SubmittersRCV000119240 RCV000129377 RCV000433737 RCV001357336 RCV003997308 RCV005420549

NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)

SNV
Germline

Chr3:36993599

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA010776

rs_367654552

18 SubmittersRCV000121355 RCV000130101 RCV000199110 RCV000410307 RCV000656856 RCV003997344 RCV003935160

NM_000251.3(MSH2):c.5C>T (p.Ala2Val)

SNV
Germline

Chr2:47403196

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA021548

rs_587778521

14 SubmittersRCV000121557 RCV000168363 RCV000410801 RCV000512708 RCV000561626 RCV003997346 RCV005025193

NM_000251.3(MSH2):c.208G>A (p.Ala70Thr)

SNV
Germline

Chr2:47403399

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019989

rs_587778522

8 SubmittersRCV000121558 RCV000771511 RCV000808087 RCV003997347 RCV004528832 RCV004567049

NM_000251.3(MSH2):c.1631T>C (p.Ile544Thr)

SNV
Germline

Chr2:47466778

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA018761

rs_587778524

6 SubmittersRCV000121560 RCV000472209 RCV000569681 RCV001588967 RCV003460853

NM_000251.3(MSH2):c.1798G>T (p.Ala600Ser)

SNV
Germline

Chr2:47475063

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA019328

rs_587778526

7 SubmittersRCV000121563 RCV000543103 RCV001804848 RCV003325461 RCV004806069 RCV004530024

NM_000251.3(MSH2):c.2545C>G (p.Leu849Val)

SNV
Germline

Chr2:47480782

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020700

rs_587778527

5 SubmittersRCV000121565 RCV000820212 RCV002221491 RCV002426668 RCV003997349

NM_000251.3(MSH2):c.220A>C (p.Asn74His)

SNV
Germline

Chr2:47408409

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020232

rs_150548839

14 SubmittersRCV000121566 RCV000230947 RCV000409685 RCV000571485 RCV000587188 RCV002477316 RCV003483487 RCV003997350 RCV004734660

NM_000179.3(MSH6):c.476C>T (p.Ala159Val)

SNV
Germline

Chr2:47795912

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015692

rs_587778528

9 SubmittersRCV000121571 RCV000215694 RCV000457237 RCV000586380 RCV003460854 RCV003997351

NM_000179.3(MSH6):c.1864A>C (p.Ile622Leu)

SNV
Germline

Chr2:47799847

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009337

rs_587778529

7 SubmittersRCV000121572 RCV000166714 RCV000791828 RCV003997352 RCV004567050

NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)

SNV
Germline

Chr2:47799046

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA007937

rs_587778531

13 SubmittersRCV000121578 RCV000130273 RCV000409146 RCV000515340 RCV000588001 RCV001083152 RCV001356010

NM_000179.3(MSH6):c.1730G>A (p.Arg577His)

SNV
Germline/somatic

Chr2:47799713

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Lynch syndrome
Lynch-like syndrome
Carcinoma of colon
Endometrial carcinoma
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA009094

rs_376220212

19 SubmittersRCV000121579 RCV000131162 RCV000204422 RCV000410866 RCV000587914 RCV000708870 RCV001249972 RCV001355523 RCV001762265 RCV005438356

NM_000179.3(MSH6):c.1995G>C (p.Glu665Asp)

SNV
Germline

Chr2:47799978

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009522

rs_587778532

7 SubmittersRCV000121580 RCV000199087 RCV000663104 RCV000774599 RCV001775599

NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala)

SNV
Germline

Chr2:47803480

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012103

rs_376452612

14 SubmittersRCV000121586 RCV000214188 RCV000200854 RCV000663151 RCV000590417 RCV003460855 RCV003997353

NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala)

SNV
Germline

Chr2:47806315

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Lynch syndrome
MSH6-related disorder
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA014193

rs_202066386

16 SubmittersRCV000121589 RCV000160698 RCV000206271 RCV000411602 RCV000656902 RCV003460856 RCV003997354 RCV004739417 RCV005031625

NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu)

SNV
Germline

Chr7:5987531

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009377

rs_587778616

6 SubmittersRCV000121838 RCV000218590 RCV000630224 RCV000766288 RCV002498578

NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp)

SNV
Germline

Chr7:5987057

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010119

rs_115670442

12 SubmittersRCV000121841 RCV000129033 RCV000195850 RCV001164192 RCV001719888

NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)

SNV
Germline

Chr7:5987078

Pathogenic

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome
PMS2-related disorder
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Multiple Submitters
No Conflicts

CA010032

rs_587778618

18 SubmittersRCV000121846 RCV000132169 RCV000222921 RCV000530464 RCV001356008 RCV002288610 RCV003155080 RCV002483226 RCV003997356 RCV004742269 RCV006605229

NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)

SNV
Germline/somatic

Chr7:6002611

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA012018

rs_114090343

18 SubmittersRCV000121857 RCV000129112 RCV000168196 RCV000590269 RCV001093698 RCV001084398 RCV001095167 RCV003945100

NM_000535.7(PMS2):c.598G>A (p.Val200Ile)

SNV
Germline

Chr7:5999215

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Ovarian cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA012369

rs_587778620

10 SubmittersRCV000121858 RCV000412111 RCV000570676 RCV001030724 RCV001244956 RCV003153398 RCV005042233

NM_000179.3(MSH6):c.1449G>T (p.Val483=)

SNV
Germline

Chr2:47799432

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008638

rs_35590297

24 SubmittersRCV000126826 RCV000202140 RCV000600196 RCV000679214 RCV001084470 RCV001356260 RCV001798401 RCV003997396

NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp)

SNV
Germline

Chr2:47799582

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
not specified
Breast and/or ovarian cancer
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA008846

rs_373726731

14 SubmittersRCV000122952 RCV000218729 RCV000219239 RCV000411179 RCV000524115 RCV000780476 RCV003492534 RCV003460868

NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)

SNV
Germline

Chr2:47800367

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
not specified
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA010164

rs_202127474

17 SubmittersRCV000160681 RCV000172814 RCV000412250 RCV000588994 RCV001084037 RCV003149835 RCV003493450 RCV005359159

NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)

SNV
Germline

Chr2:47801134

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
not specified
Breast and/or ovarian cancer
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA011639

rs_576269342

15 SubmittersRCV000132157 RCV000408980 RCV000588824 RCV001030498 RCV001257068 RCV001355067 RCV001796965 RCV003492535 RCV004528840

NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala)

SNV
Germline

Chr2:47803506

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
not specified
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA012231

rs_63750998

15 SubmittersRCV000122963 RCV000128933 RCV000411062 RCV000587527 RCV001255217 RCV001354177 RCV003149837

NM_000179.3(MSH6):c.3649A>G (p.Arg1217Gly)

SNV
Germline

Chr2:47806206

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013716

rs_587780677

10 SubmittersRCV000122965 RCV000454773 RCV000491291 RCV000657087 RCV003467086 RCV003997399

NM_000179.3(MSH6):c.628-7C>A

SNV
Germline

Chr2:47798604

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
not specified
Inherited prostate cancer
Lymphoma

Criteria Provided
Conflicting Classifications

CA016029

rs_373129248

18 SubmittersRCV000411528 RCV000580986 RCV000588337 RCV001080866 RCV001356719 RCV001818293 RCV006605230 RCV005890499

NM_000249.4(MLH1):c.1502T>G (p.Ile501Ser)

SNV
Germline

Chr3:37028876

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA005624

rs_587780679

8 SubmittersRCV000122971 RCV000217500 RCV000486481 RCV000662470 RCV003997400

NM_000249.4(MLH1):c.2029A>T (p.Ser677Cys)

SNV
Germline

Chr3:37048943

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008244

rs_587780681

8 SubmittersRCV000122973 RCV000486466 RCV001014133 RCV003474737 RCV003997402

NM_000249.4(MLH1):c.242C>T (p.Thr81Ile)

SNV
Germline

Chr3:37000989

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
MLH1-related disorder
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009387

rs_63751069

8 SubmittersRCV000122976 RCV000567161 RCV001553747 RCV003407529 RCV003997403 RCV004567061 RCV004767080

NM_000249.4(MLH1):c.42A>C (p.Thr14=)

SNV
Germline

Chr3:36993589

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Malignant tumor of breast
Breast and/or ovarian cancer
MLH1-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010370

rs_369737664

15 SubmittersRCV000126779 RCV000212511 RCV000585926 RCV001081345 RCV001147828 RCV001358331 RCV003492536 RCV003975092 RCV003997404

NM_000251.3(MSH2):c.166G>A (p.Glu56Lys)

SNV
Germline

Chr2:47403357

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018954

rs_587779102

9 SubmittersRCV000122982 RCV000235661 RCV000580136 RCV000657006 RCV002477321 RCV003460870 RCV003997405

NM_000251.3(MSH2):c.1986G>C (p.Gln662His)

SNV
Germline

Chr2:47475251

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019664

rs_587780685

5 SubmittersRCV000122984 RCV001013915 RCV003997406 RCV005243121

NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg)

SNV
Germline

Chr2:47480852

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020814

rs_587780686

8 SubmittersRCV000122987 RCV000411448 RCV000563636 RCV002469017 RCV003149838 RCV003997407

NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr)

SNV
Germline

Chr2:47482861

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
See cases
Lynch syndrome
MSH2-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA020898

rs_587780687

11 SubmittersRCV000122988 RCV000412095 RCV000573859 RCV001558333 RCV002251992 RCV003997408 RCV004542928 RCV004700429

NM_000251.3(MSH2):c.336C>A (p.Ser112=)

SNV
Germline

Chr2:47408525

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA021025

rs_34312619

12 SubmittersRCV000163093 RCV000420474 RCV000590813 RCV000662370 RCV001082839 RCV003997409 RCV005394440

NM_000251.3(MSH2):c.819A>G (p.Val273=)

SNV
Germline

Chr2:47414295

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA022370

rs_146577635

14 SubmittersRCV000160641 RCV000212592 RCV000586418 RCV001082291 RCV001139365 RCV005394441

NM_000251.3(MSH2):c.835C>G (p.Leu279Val)

SNV
Germline

Chr2:47414311

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022395

rs_375351205

14 SubmittersRCV000122993 RCV000131260 RCV000237042 RCV000409770 RCV000656875 RCV003997410

NM_000535.7(PMS2):c.1357A>G (p.Met453Val)

SNV
Germline

Chr7:5987408

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009542

rs_587780722

7 SubmittersRCV000123075 RCV000572231 RCV002466437 RCV003997413 RCV005429002

NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser)

SNV
Germline

Chr7:5987345

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
not specified
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009651

rs_373114291

12 SubmittersRCV000123078 RCV000131575 RCV000479914 RCV001775084 RCV001824617 RCV003149840 RCV003997415

NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)

SNV
Germline

Chr7:5987209

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA009843

rs_63750649

16 SubmittersRCV000132386 RCV000410304 RCV000515260 RCV000483157 RCV000780619 RCV001085962 RCV001798404

NM_000535.7(PMS2):c.1936A>C (p.Arg646=)

SNV
Germline

Chr7:5986829

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010496

rs_369582237

11 SubmittersRCV000163542 RCV000123084 RCV000418482 RCV000679354 RCV001085291 RCV003997417

NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)

SNV
Germline/somatic

Chr7:6002607

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 4
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA012032

rs_116373169

22 SubmittersRCV000128980 RCV000200993 RCV000587673 RCV000662720 RCV000758689 RCV001084082 RCV001093681 RCV001356925 RCV003492544

NM_000535.7(PMS2):c.497T>C (p.Leu166Pro)

SNV
Germline

Chr7:6002493

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer
PMS2-related disorder
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012179

rs_116349687

13 SubmittersRCV000129051 RCV000587642 RCV001080227 RCV001175360 RCV003492545 RCV004742270 RCV005394449 RCV005420556

NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)

SNV
Germline

Chr7:5995607

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 4
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012968

rs_1805322

19 SubmittersRCV000128979 RCV000586384 RCV001082886 RCV001818294 RCV003492546 RCV003989321 RCV004806074 RCV005425730

NM_000535.7(PMS2):c.883C>T (p.Arg295Trp)

SNV
Germline

Chr7:5995554

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013151

rs_182246929

10 SubmittersRCV000123094 RCV000165443 RCV000487208 RCV002267863 RCV003483489 RCV003460871 RCV003997419

NM_002354.3(EPCAM):c.319G>A (p.Ala107Thr)

SNV
Germline

Chr2:47373942

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA332770

rs_587780765

3 SubmittersRCV000123187 RCV002274917 RCV002321607

NM_000251.3(MSH2):c.1560A>G (p.Gly520=)

SNV
Germline

Chr2:47466707

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Malignant tumor of breast
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA018604

rs_63750820

17 SubmittersRCV000126813 RCV000212603 RCV000524346 RCV000662509 RCV001356577 RCV001815198 RCV003492569 RCV003997440 RCV004532521

NM_000179.3(MSH6):c.1665A>G (p.Ala555=)

SNV
Germline

Chr2:47799648

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009022

rs_146785465

18 SubmittersRCV000126827 RCV000212650 RCV000662603 RCV000586048 RCV001084346 RCV003492571 RCV003997443

NM_000535.7(PMS2):c.988+11T>C

SNV
Germline

Chr7:5991962

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA013404

rs_139969671

9 SubmittersRCV000127458 RCV000579510 RCV001164299 RCV002055749 RCV003492573

NM_000535.7(PMS2):c.1560G>A (p.Ala520=)

SNV
Germline

Chr7:5987205

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Malignant tumor of breast
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009868

rs_201167814

22 SubmittersRCV000127461 RCV000162432 RCV000487654 RCV001079708 RCV001159293 RCV001357279 RCV001798425 RCV003997451

NM_000535.7(PMS2):c.2187C>G (p.Leu729=)

SNV
Germline

Chr7:5978684

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA011039

rs_373630535

22 SubmittersRCV000127465 RCV000162439 RCV000197459 RCV000590780 RCV000662897 RCV001079494 RCV001355979 RCV001798426

NM_000249.4(MLH1):c.1154G>A (p.Arg385His)

SNV
Germline/somatic

Chr3:37025752

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch-like syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004510

rs_63750430

17 SubmittersRCV000128876 RCV000232561 RCV000409286 RCV000484459 RCV000657135 RCV000764490 RCV001249936 RCV003997466

NM_000179.3(MSH6):c.107C>T (p.Ala36Val)

SNV
Germline

Chr2:47783340

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Endometrial carcinoma
Ovarian cancer
Breast and/or ovarian cancer
Hereditary nonpolyposis colon cancer
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA007963

rs_61756469

19 SubmittersRCV000128922 RCV000220784 RCV000226897 RCV000412094 RCV000780475 RCV001356921 RCV003153411 RCV003149883 RCV003323293 RCV004532539

NM_000179.3(MSH6):c.749T>C (p.Val250Ala)

SNV
Germline

Chr2:47798732

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA016410

rs_587781275

16 SubmittersRCV000128926 RCV000168003 RCV000202238 RCV000410809 RCV000656890 RCV000761137 RCV003467099 RCV003492580

NM_000251.3(MSH2):c.775C>T (p.Pro259Ser)

SNV
Germline

Chr2:47412543

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA022230

rs_587781294

15 SubmittersRCV000128997 RCV000235651 RCV000228319 RCV000759122 RCV001269353 RCV003333736 RCV003997470 RCV004532540 RCV005025205

NM_000179.3(MSH6):c.2591G>A (p.Gly864Glu)

SNV
Germline

Chr2:47800574

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010461

rs_587781306

5 SubmittersRCV000129021 RCV000557524 RCV003997471 RCV004998252

NM_000535.7(PMS2):c.-7T>C

SNV
Germline

Chr7:6009026

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
not specified
Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Breast and/or ovarian cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA012861

rs_199660792

11 SubmittersRCV000129024 RCV000293218 RCV000254679 RCV001356694 RCV002514707 RCV003477536 RCV003492582 RCV003905226

NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)

SNV
Germline

Chr2:47800264

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
not specified
Endometrial carcinoma
Lynch syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Inherited polyposis and early onset colorectal cancer - germline testing

Criteria Provided
Conflicting Classifications

CA009950

rs_199876321

20 SubmittersRCV000129031 RCV000195792 RCV000657020 RCV000662484 RCV001002443 RCV003460882 RCV003997472 RCV005394467 RCV004808591

NM_000249.4(MLH1):c.2060G>A (p.Arg687Gln)

SNV
Germline

Chr3:37048974

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA008356

rs_587781310

9 SubmittersRCV000129035 RCV000168237 RCV001578234 RCV002291567 RCV003997473 RCV006273539

NM_000251.3(MSH2):c.1462T>G (p.Leu488Val)

SNV
Germline

Chr2:47463106

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018364

rs_587781314

12 SubmittersRCV000129044 RCV000199801 RCV000656877 RCV000662760 RCV003997475

NM_000535.7(PMS2):c.2095G>C (p.Asp699His)

SNV
Germline

Chr7:5982903

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 4
PMS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA010800

rs_587781317

10 SubmittersRCV000129052 RCV000214144 RCV000234750 RCV003389702 RCV003453059 RCV004742273

NM_000179.3(MSH6):c.2776C>T (p.Leu926Phe)

SNV
Germline

Chr2:47800759

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010886

rs_587781318

7 SubmittersRCV000129055 RCV000205831 RCV000212670 RCV003398753 RCV003997476

NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn)

SNV
Germline

Chr2:47445618

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA018049

rs_587781331

9 SubmittersRCV000129078 RCV000210120 RCV000482497 RCV000524342 RCV000662718 RCV000781551

NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)

SNV
Germline

Chr2:47806282

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA014077

rs_63750119

16 SubmittersRCV000129081 RCV000230170 RCV000485282 RCV000663091 RCV001034637 RCV003460886 RCV003997478 RCV005025206 RCV005359196

NM_000535.7(PMS2):c.904-2A>G

SNV
Germline

Chr7:5992059

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA013226

rs_587781339

10 SubmittersRCV000129110 RCV000206112 RCV000576592 RCV002492494 RCV002465529

NM_000249.4(MLH1):c.2131T>C (p.Ser711Pro)

SNV
Germline

Chr3:37050513

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA008808

rs_587781342

6 SubmittersRCV000129119 RCV000823517 RCV001800424 RCV003997480 RCV004567078

NM_000251.3(MSH2):c.1429A>C (p.Asn477His)

SNV
Germline

Chr2:47463073

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA018266

rs_587781346

9 SubmittersRCV000129124 RCV000210186 RCV000688403 RCV003477537 RCV005406835

NM_000179.3(MSH6):c.2482G>A (p.Val828Ile)

SNV
Germline

Chr2:47800465

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome
not specified
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA010298

rs_587781349

7 SubmittersRCV000129131 RCV000226891 RCV001140447 RCV003997483 RCV004700437 RCV004532546

NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter)

SNV
Germline

Chr2:47800915

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA011127

rs_587781372

8 SubmittersRCV000129185 RCV000202022 RCV001849919 RCV003453060

NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala)

SNV
Germline

Chr7:5987477

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009484

rs_587781382

8 SubmittersRCV000129211 RCV000232320 RCV000486562 RCV003235051 RCV003997486 RCV005042246

NM_000179.3(MSH6):c.4061T>C (p.Leu1354Pro)

SNV
Germline

Chr2:47806838

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA015365

rs_267608140

6 SubmittersRCV000129223 RCV000204246 RCV001775618 RCV003997487 RCV004567081

NM_000251.3(MSH2):c.894G>C (p.Gln298His)

SNV
Germline

Chr2:47414370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022491

rs_587781397

10 SubmittersRCV000129243 RCV000701906 RCV001354398 RCV002228472 RCV003153414 RCV004998255

NM_000179.3(MSH6):c.1407T>A (p.Tyr469Ter)

SNV
Germline

Chr2:47799390

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008590

rs_587781408

3 SubmittersRCV000129263 RCV000503536 RCV005629496

NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg)

SNV
Germline

Chr7:5987327

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009685

rs_146848345

8 SubmittersRCV000129313 RCV000589892 RCV000629794 RCV002505103 RCV003997493

NM_000251.3(MSH2):c.260C>G (p.Ser87Cys)

SNV
Germline

Chr2:47408449

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020808

rs_587781447

9 SubmittersRCV000129363 RCV000212581 RCV000233259 RCV000662735 RCV003997495

NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp)

SNV
Germline

Chr2:47480793

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020728

rs_587781453

11 SubmittersRCV000129378 RCV000410280 RCV000480490 RCV000532767 RCV000767208 RCV003997498

NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)

SNV
Germline

Chr2:47800283

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Rhabdomyosarcoma
Carcinoma of colon
Hereditary nonpolyposis colon cancer
Condition: not provided

Reviewed By Expert Panel

CA009983

rs_587781462

12 SubmittersRCV000129397 RCV000410431 RCV000477388 RCV000501569 RCV000622945 RCV001257543 RCV001353758 RCV001251301 RCV004719708

NM_000251.2(MSH2):c.-73G>A

SNV
Germline

Chr2:47403119

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA021953

rs_552303079

4 SubmittersRCV000129430 RCV000364089 RCV000507430 RCV004532552

NM_000179.3(MSH6):c.3600A>G (p.Ile1200Met)

SNV
Germline

Chr2:47805661

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Endometrial carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA013491

rs_587781482

10 SubmittersRCV000129441 RCV000412406 RCV000539721 RCV000766608 RCV003997501 RCV004567084 RCV006273541

NM_000249.4(MLH1):c.704A>T (p.Asp235Val)

SNV
Germline

Chr3:37014458

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Ovarian cancer
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA011774

rs_587781505

12 SubmittersRCV000129480 RCV000529021 RCV001030626 RCV001290582 RCV002285268 RCV003153416 RCV003997505 RCV005420563 RCV005359205

NM_000249.4(MLH1):c.622C>T (p.Pro208Ser)

SNV
Germline

Chr3:37012044

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA011264

rs_587781509

9 SubmittersRCV000129486 RCV000204556 RCV000212523 RCV001260299 RCV003997506 RCV005620905

NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)

SNV
Germline

Chr2:47798888

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 5
Lynch syndrome
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA016638

rs_587781510

13 SubmittersRCV000129487 RCV000168210 RCV000216085 RCV000589579 RCV000662957 RCV000708859 RCV005365018

NM_000249.4(MLH1):c.207+5G>C

SNV
Germline

Chr3:36996714

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008462

rs_587781518

3 SubmittersRCV000129504 RCV000491027

NM_000251.2(MSH2):c.-68G>A

SNV
Germline

Chr2:47403124

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA022022

rs_576303132

4 SubmittersRCV000129527 RCV000986640

NM_000179.3(MSH6):c.3604A>G (p.Met1202Val)

SNV
Germline

Chr2:47805665

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013509

rs_369778514

9 SubmittersRCV000129582 RCV000411815 RCV000479516 RCV000780465 RCV000810760 RCV003460896 RCV003997512

NM_000179.3(MSH6):c.3155A>G (p.Glu1052Gly)

SNV
Germline

Chr2:47801138

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA011668

rs_587781568

4 SubmittersRCV000129593 RCV000705750 RCV001293976 RCV003460897

NM_000179.3(MSH6):c.3026A>T (p.Lys1009Ile)

SNV
Germline

Chr2:47801009

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA011400

rs_587781593

10 SubmittersRCV000129648 RCV000459156 RCV000480608 RCV001354619 RCV003315879 RCV003997514 RCV004567091

NM_000179.3(MSH6):c.*1A>G

SNV
Germline

Chr2:47806861

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009540

rs_587781604

8 SubmittersRCV000129679 RCV000659885 RCV000679211 RCV003997516

NM_000179.3(MSH6):c.3361G>A (p.Glu1121Lys)

SNV
Germline

Chr2:47803608

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA012691

rs_587781609

5 SubmittersRCV000129694 RCV000212682 RCV000629979 RCV003467118 RCV005600713

NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser)

SNV
Germline

Chr2:47799797

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009251

rs_587781616

14 SubmittersRCV000129705 RCV000200701 RCV000587763 RCV000708871 RCV000765684 RCV004567094 RCV005600714

NM_000251.3(MSH2):c.1071G>C (p.Glu357Asp)

SNV
Germline

Chr2:47416424

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017034

rs_587781617

3 SubmittersRCV000129706 RCV001065111 RCV003997517

NM_000179.3(MSH6):c.3299C>G (p.Thr1100Arg)

SNV
Germline

Chr2:47803546

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012463

rs_63750442

7 SubmittersRCV000129716 RCV000222346 RCV001089139 RCV003997519

NM_000251.3(MSH2):c.1360A>G (p.Ile454Val)

SNV
Germline

Chr2:47445631

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA018091

rs_587781627

9 SubmittersRCV000129729 RCV000460057 RCV000588274 RCV000761179 RCV002267870

NM_000535.7(PMS2):c.2465T>C (p.Leu822Pro)

SNV
Germline

Chr7:5973523

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011547

rs_587781636

2 SubmittersRCV000129748 RCV003453067

NM_000179.3(MSH6):c.2906A>T (p.Tyr969Phe)

SNV
Germline

Chr2:47800889

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011081

rs_63749919

7 SubmittersRCV000129763 RCV000204094 RCV000410024 RCV002288628 RCV003997522

NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)

SNV
Germline

Chr2:47803491

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Condition: not provided
not specified
Ovarian cancer
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012124

rs_186240214

12 SubmittersRCV000129766 RCV000409325 RCV000464994 RCV000515187 RCV000586138 RCV001175358 RCV003153418 RCV003467119 RCV003997523

NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)

SNV
Germline

Chr2:47806781

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
not specified
Endometrial carcinoma
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA015298

rs_564434147

15 SubmittersRCV000129804 RCV000204360 RCV000409369 RCV000656905 RCV001375525 RCV003467121 RCV004532553

NM_000179.3(MSH6):c.3111C>A (p.Phe1037Leu)

SNV
Germline

Chr2:47801094

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011575

rs_587781673

6 SubmittersRCV000129832 RCV000221076 RCV000410297 RCV001298939 RCV003997528

NM_000251.3(MSH2):c.2439G>A (p.Met813Ile)

SNV
Germline

Chr2:47478500

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020596

rs_587781678

9 SubmittersRCV000129838 RCV000168339 RCV000482932 RCV003335115 RCV004532554 RCV003997529

NM_000179.3(MSH6):c.3557G>A (p.Gly1186Asp)

SNV
Germline

Chr2:47805618

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013435

rs_587781690

12 SubmittersRCV000129855 RCV000206364 RCV000485699 RCV000657043 RCV000764433 RCV003460903 RCV003997530

NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)

SNV
Germline

Chr7:5987077

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
not specified
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA010059

rs_63750668

15 SubmittersRCV000129896 RCV000478617 RCV000662634 RCV001081618 RCV001193855 RCV005359218

NM_000251.3(MSH2):c.698C>G (p.Ser233Cys)

SNV
Germline

Chr2:47412466

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA022041

rs_587781724

9 SubmittersRCV000129911 RCV000465942 RCV001551502 RCV003460906 RCV003997535 RCV006273542

NM_000179.3(MSH6):c.2226C>G (p.Asn742Lys)

SNV
Germline

Chr2:47800209

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Condition: not provided
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
not specified

Criteria Provided
Conflicting Classifications

CA009877

rs_587781739

7 SubmittersRCV000129942 RCV000693873 RCV001030494 RCV001552395 RCV005025211 RCV004782244

NM_000179.3(MSH6):c.2855T>C (p.Leu952Pro)

SNV
Germline

Chr2:47800838

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011015

rs_587781743

5 SubmittersRCV000129947 RCV000502711 RCV000629697 RCV001582602 RCV003997536

NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp)

SNV
Germline

Chr3:37020432

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004033

rs_587781750

10 SubmittersRCV000129956 RCV000196459 RCV000411750 RCV001568035 RCV003226208 RCV003997537

NM_000179.3(MSH6):c.677A>G (p.Glu226Gly)

SNV
Germline

Chr2:47798660

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016211

rs_587781777

7 SubmittersRCV000130018 RCV000410453 RCV000804545 RCV003997541

NM_000251.3(MSH2):c.409G>C (p.Gly137Arg)

SNV
Germline

Chr2:47410136

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021142

rs_587781795

15 SubmittersRCV000130057 RCV000202282 RCV000196356 RCV000679311 RCV001355466 RCV001798439 RCV003997545 RCV004734672 RCV005246662

NM_000535.7(PMS2):c.823C>G (p.Gln275Glu)

SNV
Germline

Chr7:5995614

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012928

rs_587780062

9 SubmittersRCV000130089 RCV000411073 RCV000486746 RCV001079273 RCV002265615 RCV003997548

NM_000535.7(PMS2):c.1424T>A (p.Val475Glu)

SNV
Germline

Chr7:5987341

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009659

rs_587781827

4 SubmittersRCV000130112 RCV000482982 RCV001059940 RCV003997551

NM_000251.3(MSH2):c.2503A>G (p.Asn835Asp)

SNV
Germline

Chr2:47480740

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020655

rs_41295296

9 SubmittersRCV000130169 RCV000198710 RCV000520077 RCV003460914 RCV003997554

NM_000179.3(MSH6):c.2600T>G (p.Val867Gly)

SNV
Germline

Chr2:47800583

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA010487

rs_139598980

9 SubmittersRCV000130173 RCV000222583 RCV000238642 RCV000524147 RCV003317097 RCV005425740

NM_000179.3(MSH6):c.984C>G (p.Ser328Arg)

SNV
Germline

Chr2:47798967

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016753

rs_138143769

8 SubmittersRCV000130197 RCV000630133 RCV000679242 RCV003460915 RCV004806077

NM_000535.7(PMS2):c.82T>C (p.Ser28Pro)

SNV
Germline

Chr7:6005973

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012958

rs_587781908

4 SubmittersRCV000130248 RCV000233273 RCV003998048

NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln)

SNV
Germline

Chr7:5982930

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Breast and/or ovarian cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010772

rs_587781909

13 SubmittersRCV000130250 RCV000222360 RCV000230692 RCV001251272 RCV001798443 RCV003467136 RCV005031638 RCV005359232

NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)

SNV
Germline

Chr7:5999181

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
not specified
Malignant tumor of breast
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA012455

rs_587781934

20 SubmittersRCV000130297 RCV000200665 RCV000212846 RCV000412393 RCV000781748 RCV001356210 RCV003998053 RCV005042254

NM_000535.7(PMS2):c.961G>A (p.Val321Ile)

SNV
Germline

Chr7:5992000

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome 4
PMS2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013376

rs_377043696

9 SubmittersRCV000130331 RCV000206806 RCV000222996 RCV001193814 RCV003460921 RCV004724826 RCV004806078

NM_000179.3(MSH6):c.998C>T (p.Thr333Ile)

SNV
Germline

Chr2:47798981

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA016780

rs_587781983

13 SubmittersRCV000130382 RCV000212639 RCV000475028 RCV000986711 RCV003460924 RCV005394477

NM_000251.3(MSH2):c.2459-3T>C

SNV
Germline

Chr2:47480693

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020621

rs_587781988

3 SubmittersRCV000130390 RCV000630147 RCV005246665

NM_000251.3(MSH2):c.2164G>A (p.Val722Ile)

SNV
Germline

Chr2:47476525

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020155

rs_587781996

13 SubmittersRCV000130409 RCV000168465 RCV000509191 RCV000487305 RCV003998056 RCV004532559 RCV005246666

NM_000535.7(PMS2):c.2276-10A>G

SNV
Germline

Chr7:5977767

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA011165

rs_573900018

11 SubmittersRCV000130505 RCV000203735 RCV000441367 RCV000662656 RCV001080492

NM_000535.7(PMS2):c.23+1G>T

SNV
Germline

Chr7:6008996

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA011233

rs_587782074

8 SubmittersRCV000130565 RCV000479138 RCV000529500 RCV003453076 RCV004556742 RCV005042257

NM_000179.3(MSH6):c.25A>G (p.Ser9Gly)

SNV
Germline

Chr2:47783258

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010478

rs_41294986

9 SubmittersRCV000130571 RCV000235178 RCV000475467 RCV001527050 RCV004567118 RCV003998064

NM_000179.3(MSH6):c.34C>A (p.Pro12Thr)

SNV
Germline

Chr2:47783267

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA013137

rs_587782084

11 SubmittersRCV000130582 RCV000484580 RCV000530606 RCV000986696 RCV002281956 RCV003998065 RCV004567119

NM_000249.4(MLH1):c.979C>G (p.Gln327Glu)

SNV
Germline

Chr3:37020404

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA013423

rs_587782087

10 SubmittersRCV000130590 RCV000199406 RCV000663060 RCV001564943 RCV003998066 RCV004767084

NM_000179.3(MSH6):c.1007C>G (p.Thr336Ser)

SNV
Germline

Chr2:47798990

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA007788

rs_587782102

5 SubmittersRCV000130615 RCV001219936 RCV001356288 RCV003998069

NM_000179.3(MSH6):c.369A>T (p.Lys123Asn)

SNV
Germline

Chr2:47791035

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013907

rs_587782106

8 SubmittersRCV000130622 RCV000202268 RCV000590479 RCV000807593 RCV003998070

NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr)

SNV
Germline

Chr2:47806482

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA014466

rs_587782109

13 SubmittersRCV000130625 RCV000589175 RCV001086478 RCV001260255 RCV003998071 RCV005420565

NM_000535.7(PMS2):c.1264G>A (p.Glu422Lys)

SNV
Germline

Chr7:5987501

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009437

rs_587782175

7 SubmittersRCV000130789 RCV000204417 RCV000590135 RCV003462001 RCV003998078

NM_000251.3(MSH2):c.1270C>T (p.His424Tyr)

SNV
Germline

Chr2:47429935

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017712

rs_587782278

9 SubmittersRCV000131137 RCV000464371 RCV000481281 RCV003447501 RCV003998086

NM_000251.3(MSH2):c.297A>T (p.Arg99Ser)

SNV
Germline

Chr2:47408486

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020986

rs_587782283

4 SubmittersRCV000131144 RCV000802284 RCV003998087

NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)

SNV
Germline

Chr2:47799347

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
not specified

Criteria Provided
Conflicting Classifications

CA008530

rs_200938360

11 SubmittersRCV000131161 RCV000196009 RCV000409980 RCV000524107 RCV000590712 RCV001355650 RCV002281960

NM_000179.3(MSH6):c.596C>T (p.Pro199Leu)

SNV
Germline

Chr2:47796032

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA015926

rs_587782315

6 SubmittersRCV000131212 RCV000477097 RCV002510790 RCV003998091 RCV005365032

NM_000179.3(MSH6):c.-2G>T

SNV
Germline

Chr2:47783232

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
MSH6-related disorder
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA011320

rs_374748889

12 SubmittersRCV000131214 RCV000199508 RCV000588323 RCV001818322 RCV003492616 RCV004532569 RCV005089646

NM_000179.3(MSH6):c.3014G>A (p.Arg1005Gln)

SNV
Germline

Chr2:47800997

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA011349

rs_587782324

9 SubmittersRCV000131231 RCV000764426 RCV001060704 RCV003998092 RCV004567127 RCV004777601 RCV005600732 RCV005237571

NM_000535.7(PMS2):c.2007-2A>C

SNV
Germline

Chr7:5982993

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA010693

rs_587782336

4 SubmittersRCV000131264 RCV000818298 RCV003453081 RCV005414463

NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)

SNV
Germline

Chr7:5987386

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 4
Condition: not provided
Endometrial carcinoma
Breast and/or ovarian cancer
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009586

rs_150201462

17 SubmittersRCV000131270 RCV000477201 RCV000483100 RCV000662638 RCV000767041 RCV001353427 RCV003492618 RCV003998095 RCV005042270

NM_000535.7(PMS2):c.2567T>G (p.Leu856Arg)

SNV
Germline

Chr7:5973421

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA011714

rs_587782342

5 SubmittersRCV000131279 RCV000467305 RCV001535447 RCV001596973

NM_000179.3(MSH6):c.1376C>G (p.Ser459Cys)

SNV
Germline

Chr2:47799359

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008555

rs_587782346

7 SubmittersRCV000131285 RCV000479474 RCV000548616 RCV002509239 RCV003998097

NM_000179.3(MSH6):c.3197A>G (p.Tyr1066Cys)

SNV
Germline

Chr2:47803444

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA011852

rs_372103816

10 SubmittersRCV000131293 RCV000234661 RCV001560125 RCV003398768 RCV003998098 RCV004567129 RCV005600733

NM_000179.3(MSH6):c.1607G>A (p.Ser536Asn)

SNV
Germline

Chr2:47799590

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA008866

rs_587782352

5 SubmittersRCV000131295 RCV000693545 RCV003998099 RCV005394485

NM_000251.3(MSH2):c.163C>G (p.Arg55Gly)

SNV
Germline

Chr2:47403354

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018773

rs_587782354

7 SubmittersRCV000131300 RCV000212579 RCV000545235 RCV004567130 RCV004700449 RCV003998100

NM_000251.3(MSH2):c.1530G>T (p.Gln510His)

SNV
Germline

Chr2:47466677

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA018566

rs_587782355

5 SubmittersRCV000131303 RCV000823121 RCV003315905

NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)

SNV
Germline

Chr2:47798633

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Lynch syndrome
not specified
Malignant tumor of breast
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA016133

rs_554012110

16 SubmittersRCV000131354 RCV000167904 RCV000212632 RCV000411184 RCV000708856 RCV001193124 RCV001355774 RCV001535792

NM_000179.3(MSH6):c.2926C>T (p.Arg976Cys)

SNV
Germline

Chr2:47800909

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011096

rs_587782386

8 SubmittersRCV000131393 RCV000212673 RCV000630013 RCV001355155 RCV001818325 RCV003462013 RCV003998102

NM_000251.3(MSH2):c.2178G>C (p.Met726Ile)

SNV
Germline

Chr2:47476539

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Carcinoma of colon
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 1
MSH2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA020172

rs_587782396

14 SubmittersRCV000131413 RCV000227062 RCV000486473 RCV000524379 RCV000767207 RCV003998103 RCV003467174 RCV004532570 RCV005861060

NM_000251.3(MSH2):c.792+2T>C

SNV
Germline

Chr2:47412562

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA022278

rs_587782408

2 SubmittersRCV000131446 RCV003453084

NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)

SNV
Germline

Chr7:5977677

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA011333

rs_576055272

22 SubmittersRCV000131526 RCV000218670 RCV000656951 RCV000662644 RCV001082079 RCV001798453

NM_000535.7(PMS2):c.1399G>A (p.Val467Ile)

SNV
Germline/somatic

Chr7:5987366

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch-like syndrome
Breast and/or ovarian cancer
Lynch syndrome
PMS2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA009624

rs_373611083

12 SubmittersRCV000131574 RCV000457616 RCV000656947 RCV001249988 RCV003149908 RCV003998108 RCV003894996 RCV005055602

NM_000535.7(PMS2):c.1551C>A (p.Ser517Arg)

SNV
Germline

Chr7:5987214

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009836

rs_587782479

8 SubmittersRCV000131593 RCV000696828 RCV001563355 RCV003998111 RCV005394488

NM_000251.3(MSH2):c.209C>T (p.Ala70Val)

SNV
Germline

Chr2:47403400

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020016

rs_587782481

4 SubmittersRCV000131596 RCV000805430 RCV002466443 RCV002466444

NM_000179.3(MSH6):c.622A>G (p.Met208Val)

SNV
Germline

Chr2:47796058

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015995

rs_369058374

8 SubmittersRCV000131629 RCV000554644 RCV000765681 RCV003462016 RCV003998113 RCV005406840 RCV004760394

NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr)

SNV
Germline

Chr2:47800810

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Lynch syndrome
MSH6-related disorder
not specified
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA010974

rs_143520357

11 SubmittersRCV000131640 RCV000205918 RCV000212672 RCV000412088 RCV001356309 RCV004739455 RCV005886933 RCV005862991

NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg)

SNV
Germline

Chr2:47800010

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma
MSH6-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA009570

rs_143643688

13 SubmittersRCV000131641 RCV000204601 RCV000212656 RCV000410949 RCV001354229 RCV003462017 RCV004739456 RCV005886934

NM_000179.3(MSH6):c.713C>A (p.Ser238Tyr)

SNV
Germline

Chr2:47798696

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016318

rs_587782510

12 SubmittersRCV000131657 RCV000214572 RCV000410793 RCV000472070 RCV000656889 RCV003467180 RCV003998114

NM_000251.3(MSH2):c.965G>T (p.Gly322Val)

SNV
Germline

Chr2:47416318

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Lynch syndrome
not specified
MSH2-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA022651

rs_4987188

16 SubmittersRCV000131668 RCV000203979 RCV000410421 RCV000482522 RCV001357874 RCV003150951 RCV004734676 RCV005600738

NM_000179.3(MSH6):c.698C>G (p.Pro233Arg)

SNV
Germline

Chr2:47798681

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016269

rs_142949377

8 SubmittersRCV000131704 RCV000212633 RCV000557767 RCV000663288 RCV003467182 RCV003998115

NM_000251.3(MSH2):c.900G>A (p.Met300Ile)

SNV
Germline

Chr2:47414376

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA022513

rs_587782530

6 SubmittersRCV000131729 RCV000487151 RCV001202065 RCV004806081 RCV005025217

NM_000535.7(PMS2):c.1243G>A (p.Val415Met)

SNV
Germline

Chr7:5987522

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome 4
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colon cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA009419

rs_138387687

20 SubmittersRCV000131757 RCV000198383 RCV000586259 RCV000855605 RCV000987834 RCV001355081 RCV001535477 RCV002275085 RCV003323294 RCV004742274

NM_000535.7(PMS2):c.2033T>C (p.Ile678Thr)

SNV
Germline

Chr7:5982965

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA010730

rs_587782553

7 SubmittersRCV000131767 RCV000196874 RCV000217701 RCV003462022

NM_000535.7(PMS2):c.2412G>C (p.Lys804Asn)

SNV
Germline

Chr7:5977621

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011460

rs_547715146

6 SubmittersRCV000131772 RCV000222535 RCV000689497 RCV001193254 RCV003467186

NM_000535.7(PMS2):c.877A>G (p.Asn293Asp)

SNV
Germline

Chr7:5995560

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4
not specified
PMS2-related disorder
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA013127

rs_530993704

15 SubmittersRCV000131778 RCV000238840 RCV000410031 RCV000486344 RCV000524482 RCV000765959 RCV001193967 RCV003415963 RCV005042275

NM_000251.3(MSH2):c.860G>C (p.Gly287Ala)

SNV
Germline

Chr2:47414336

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022444

rs_587782567

8 SubmittersRCV000131790 RCV000588299 RCV000688511 RCV000855651 RCV003467187 RCV003998117

NM_000251.3(MSH2):c.1568T>C (p.Phe523Ser)

SNV
Germline

Chr2:47466715

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA018632

rs_587782587

2 SubmittersRCV000131926 RCV003453086

NM_000179.3(MSH6):c.686A>G (p.Glu229Gly)

SNV
Germline

Chr2:47798669

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016255

rs_587782591

5 SubmittersRCV000131930 RCV000630110 RCV003987372 RCV003998121

NM_000179.3(MSH6):c.2653A>T (p.Lys885Ter)

SNV
Germline

Chr2:47800636

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA010661

rs_587782593

10 SubmittersRCV000131937 RCV000578967 RCV001046832 RCV003313781 RCV003453087 RCV005629498

NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu)

SNV
Germline

Chr7:5987284

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
not specified
Lynch syndrome
Mismatch repair cancer syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009752

rs_587782602

14 SubmittersRCV000131960 RCV000168413 RCV000223568 RCV000662631 RCV001193253 RCV003998124 RCV005359286 RCV005042276

NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)

SNV
Germline

Chr7:6005967

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA013182

rs_141577476

12 SubmittersRCV000131992 RCV000475400 RCV000521392 RCV000684779 RCV001175479 RCV001310205 RCV001197302 RCV002467441

NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr)

SNV
Germline

Chr3:37047562

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
MLH1-related disorder
not specified
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA006877

rs_587782621

14 SubmittersRCV000132004 RCV000199682 RCV000483590 RCV000524250 RCV000662692 RCV003407556 RCV004596073 RCV005031644

NM_000179.3(MSH6):c.3452C>G (p.Ala1151Gly)

SNV
Germline

Chr2:47804923

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA012948

rs_587782625

10 SubmittersRCV000132010 RCV000234247 RCV000412120 RCV000484116 RCV000708888 RCV005394492

NM_000251.3(MSH2):c.1846C>T (p.Pro616Ser)

SNV
Germline

Chr2:47475111

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019428

rs_587782627

5 SubmittersRCV000132012 RCV000629677 RCV001030712 RCV003129784 RCV003998127

NM_000535.7(PMS2):c.766G>A (p.Gly256Ser)

SNV
Germline

Chr7:5997363

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012773

rs_587782633

12 SubmittersRCV000132021 RCV000167945 RCV000588881 RCV000765961 RCV000663252 RCV003998128

NM_000179.3(MSH6):c.3800T>C (p.Met1267Thr)

SNV
Germline

Chr2:47806357

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA014348

rs_148445930

12 SubmittersRCV000132022 RCV000230512 RCV000508216 RCV000589302 RCV000662794 RCV003462026 RCV003998129

NM_000179.3(MSH6):c.727C>T (p.Arg243Cys)

SNV
Germline

Chr2:47798710

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Ovarian cancer
Endometrial carcinoma
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016337

rs_377216828

10 SubmittersRCV000132028 RCV000410426 RCV000464603 RCV000480539 RCV003153428 RCV003462027 RCV004689622 RCV003998130

NM_000535.7(PMS2):c.1253C>T (p.Ser418Phe)

SNV
Germline

Chr7:5987512

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009424

rs_587782640

11 SubmittersRCV000132033 RCV000204928 RCV000485028 RCV000656946 RCV003998131 RCV004567148

NM_000251.3(MSH2):c.1772C>T (p.Pro591Leu)

SNV
Germline

Chr2:47475037

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA019258

rs_587782643

6 SubmittersRCV000132041 RCV000204826 RCV002466445 RCV004567149 RCV006273556

NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)

SNV
Germline

Chr7:5973429

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011680

rs_371673459

16 SubmittersRCV000132047 RCV000199501 RCV000479601 RCV000656953 RCV003149910 RCV003483508 RCV005359288

NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)

SNV
Germline/somatic

Chr2:47799064

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA007972

rs_587782651

9 SubmittersRCV000132064 RCV000230863 RCV000589862 RCV000758606 RCV001420719

NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)

SNV
Germline

Chr2:47403402

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Carcinoma of colon
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA020066

rs_587782659

9 SubmittersRCV000132075 RCV000503476 RCV000535324 RCV000985801 RCV001353465 RCV003453090

NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu)

SNV
Germline

Chr7:5977595

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
not specified
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011492

rs_587782665

12 SubmittersRCV000132085 RCV000231154 RCV000478307 RCV003467189 RCV004689623 RCV005031645

NM_000535.7(PMS2):c.836G>T (p.Gly279Val)

SNV
Germline

Chr7:5995601

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012989

rs_587782668

4 SubmittersRCV000132089 RCV000212853 RCV000532624 RCV005420567

NM_000179.3(MSH6):c.3847A>G (p.Ile1283Val)

SNV
Germline

Chr2:47806497

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA014555

rs_144714869

5 SubmittersRCV000132112 RCV000168184 RCV000708894

NM_000251.3(MSH2):c.942+2T>C

SNV
Germline

Chr2:47414420

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA022578

rs_587779195

3 SubmittersRCV000132128 RCV001378835 RCV003453091

NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr)

SNV
Germline/somatic

Chr2:47416429

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA017103

rs_63751604

7 SubmittersRCV000132158 RCV000225952 RCV001249911 RCV003477557 RCV003453092 RCV005055604

NM_000179.3(MSH6):c.1450G>C (p.Glu484Gln)

SNV
Germline

Chr2:47799433

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA008646

rs_587782706

6 SubmittersRCV000132161 RCV000203804 RCV000480825 RCV003998134 RCV004567151

NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys)

SNV
Germline

Chr2:47804940

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA012982

rs_587779264

10 SubmittersRCV000132174 RCV000541079 RCV001267890 RCV002514752 RCV003462035 RCV005031646 RCV005237573

NM_000535.7(PMS2):c.1A>T (p.Met1Leu)

SNV
Germline

Chr7:6009019

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA010652

rs_587779333

11 SubmittersRCV000132181 RCV000218553 RCV000527509 RCV000500454 RCV003453093 RCV004806082

NM_000535.7(PMS2):c.1058C>T (p.Ala353Val)

SNV
Germline

Chr7:5989886

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009147

rs_543676323

9 SubmittersRCV000132276 RCV000629818 RCV001818331 RCV002281059 RCV003462041 RCV003998139

NM_000251.3(MSH2):c.116G>C (p.Arg39Pro)

SNV
Germline

Chr2:47403307

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017407

rs_587782759

8 SubmittersRCV000132280 RCV000780435 RCV000800194 RCV001753517 RCV003462042 RCV003998140

NM_000249.4(MLH1):c.117-2A>G

SNV
Germline

Chr3:36996617

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004620

rs_267607712

7 SubmittersRCV000132299 RCV000200647 RCV000478069 RCV000780423 RCV001255219 RCV003453096

NM_000251.3(MSH2):c.131C>A (p.Thr44Lys)

SNV
Germline

Chr2:47403322

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA017976

rs_587779085

4 SubmittersRCV000132327 RCV000540791 RCV004567153

NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg)

SNV
Germline

Chr7:5987554

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
not specified
PMS2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009336

rs_536111818

19 SubmittersRCV000132334 RCV000168006 RCV000479344 RCV000987836 RCV001193252 RCV003389704 RCV003998143

NM_000251.2(MSH2):c.-116G>T

SNV
Germline

Chr2:47403076

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA017413

rs_587782786

2 SubmittersRCV000132335 RCV000405263

NM_000535.7(PMS2):c.2531C>A (p.Pro844His)

SNV
Germline

Chr7:5973457

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided
PMS2-related disorder
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA011663

rs_587782787

9 SubmittersRCV000132336 RCV000469886 RCV002279947 RCV003477560 RCV003894999 RCV005055606

NM_000535.7(PMS2):c.1204C>A (p.Gln402Lys)

SNV
Germline

Chr7:5987561

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009322

rs_587782789

5 SubmittersRCV000132338 RCV000687885 RCV001775627 RCV005394494

NM_000251.3(MSH2):c.586C>T (p.Pro196Ser)

SNV
Germline

Chr2:47410313

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021484

rs_587782804

6 SubmittersRCV000132363 RCV000629706 RCV003998144 RCV004815197

NM_000179.3(MSH6):c.2147C>T (p.Thr716Ile)

SNV
Germline

Chr2:47800130

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009755

rs_587782805

7 SubmittersRCV000132365 RCV000212659 RCV000411918 RCV000468830 RCV003998145

NM_000249.4(MLH1):c.1489C>T (p.Arg497Trp)

SNV
Germline

Chr3:37028863

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA005559

rs_200830026

9 SubmittersRCV000132432 RCV000168002 RCV000588886 RCV001535466 RCV003998147 RCV004567155

NM_000535.7(PMS2):c.936G>A (p.Met312Ile)

SNV
Germline

Chr7:5992025

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
PMS2-related disorder
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA013317

rs_139194813

14 SubmittersRCV000132451 RCV000590247 RCV000662505 RCV001085599 RCV001260258 RCV001270440 RCV003415967 RCV005359304

NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)

SNV
Germline

Chr7:5991978

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided
Lynch syndrome
PMS2-related disorder
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA013395

rs_587782852

14 SubmittersRCV000132452 RCV000214828 RCV000226690 RCV000411483 RCV000656944 RCV000708988 RCV003390826 RCV005394495

NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)

SNV
Germline

Chr3:37012048

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
MLH1-related disorder
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA011273

rs_150478207

17 SubmittersRCV000132489 RCV000200318 RCV000480315 RCV000662374 RCV001804854 RCV003398776 RCV003998148 RCV005365041

NM_000249.4(MLH1):c.1172A>G (p.Gln391Arg)

SNV
Germline

Chr3:37025770

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004626

rs_587782884

8 SubmittersRCV000132521 RCV000202075 RCV000759079 RCV000811189 RCV003998150

NM_000179.3(MSH6):c.2161A>G (p.Arg721Gly)

SNV
Germline

Chr2:47800144

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA009782

rs_537604099

9 SubmittersRCV000132526 RCV000469296 RCV001201355 RCV003462049 RCV003320574 RCV006273561

NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser)

SNV
Germline

Chr2:47478436

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA020519

rs_587782891

9 SubmittersRCV000132529 RCV000409026 RCV000540856 RCV001354926 RCV001650987 RCV001818334

NM_000179.3(MSH6):c.2189A>G (p.Tyr730Cys)

SNV
Germline

Chr2:47800172

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009841

rs_587782900

5 SubmittersRCV000132542 RCV002228511 RCV003998152 RCV004567156

NM_000535.7(PMS2):c.452G>A (p.Arg151His)

SNV
Germline

Chr7:6002538

Conflicting classifications of pathogenicity

Lynch syndrome 1
not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012106

rs_35629870

8 SubmittersRCV000144643 RCV000160896 RCV000456758 RCV000561546 RCV000766584 RCV003462055 RCV003998161

NM_002354.3(EPCAM):c.556-14A>G

SNV
Germline

Chr2:47378939

Pathogenic/Likely pathogenic

Congenital diarrhea 5 with tufting enteropathy
Congenital diarrhea 5 with tufting enteropathy
Lynch syndrome 8
EPCAM-related disorder
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA171016

rs_376155665

16 SubmittersRCV000144936 RCV000763487 RCV004751287 RCV003654209 RCV005359310

NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)

SNV
Germline

Chr2:47475192

Conflicting classifications of pathogenicity

Ovarian cancer
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
not specified
Lynch syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA019583

rs_374840361

14 SubmittersRCV000148637 RCV000160596 RCV000204646 RCV000589876 RCV000765671 RCV002509245 RCV003483522 RCV004567167 RCV003998170 RCV004532666 RCV005359313

NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)

SNV
Germline

Chr2:47476564

Conflicting classifications of pathogenicity

Ovarian cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
MSH2-related disorder
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA020218

rs_2229061

12 SubmittersRCV000148638 RCV000471467 RCV000411526 RCV000491584 RCV000588732 RCV001175338 RCV004532667 RCV005359314

NM_000535.7(PMS2):c.1144+1G>A

SNV
Germline

Chr7:5989799

Pathogenic/Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA009232

rs_373885654

11 SubmittersRCV000149895 RCV000213090 RCV001044002 RCV002453477 RCV003453108 RCV005359315

NM_000251.3(MSH2):c.-9G>C

SNV
Germline

Chr2:47403183

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
MSH2-related disorder
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA022727

rs_547444746

11 SubmittersRCV000160647 RCV000410517 RCV000732070 RCV001850270 RCV003998488 RCV003584558 RCV004734755 RCV005025247

NM_000251.3(MSH2):c.14C>T (p.Pro5Leu)

SNV
Germline

Chr2:47403205

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018467

rs_56170584

7 SubmittersRCV000160589 RCV000559215 RCV002390391 RCV003325191 RCV003998472

NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)

SNV
Germline

Chr2:47403246

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary nonpolyposis colon cancer
Breast and/or ovarian cancer
MSH2-related disorder
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA021396

rs_141711342

17 SubmittersRCV000160635 RCV000409531 RCV000588459 RCV001084278 RCV001255213 RCV003323295 RCV003492654 RCV004528902 RCV005359372

NM_000251.3(MSH2):c.62G>A (p.Arg21His)

SNV
Germline

Chr2:47403253

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021613

rs_730881760

5 SubmittersRCV000160594 RCV000539963 RCV001025106 RCV003998475 RCV005429003

NM_000251.3(MSH2):c.126C>G (p.Phe42Leu)

SNV
Germline

Chr2:47403317

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA017708

rs_730881766

10 SubmittersRCV000160605 RCV000212577 RCV000559519 RCV001192614 RCV003998479 RCV004567210 RCV005359368

NM_000251.3(MSH2):c.147C>G (p.Asp49Glu)

SNV
Germline

Chr2:47403338

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA018396

rs_730881771

6 SubmittersRCV000160616 RCV000196255 RCV000565780 RCV003998483 RCV004567213

NM_000251.3(MSH2):c.198C>T (p.Tyr66=)

SNV
Germline

Chr2:47403389

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Condition: not provided
Carcinoma of colon
Breast and/or ovarian cancer
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA019673

rs_730881784

17 SubmittersRCV000160652 RCV000206199 RCV000212580 RCV000409186 RCV001284171 RCV001354005 RCV003492655 RCV003998489 RCV004544470

NM_000251.3(MSH2):c.368C>G (p.Ala123Gly)

SNV
Germline

Chr2:47410095

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021080

rs_730881767

7 SubmittersRCV000160606 RCV000212582 RCV000531566 RCV003998480 RCV004567211

NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)

SNV
Germline

Chr2:47410110

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021103

rs_730881768

13 SubmittersRCV000197978 RCV000217291 RCV000590606 RCV000515278 RCV000662843 RCV003330516 RCV003998481

NM_000251.3(MSH2):c.386C>G (p.Ser129Cys)

SNV
Germline

Chr2:47410113

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021106

rs_587779972

10 SubmittersRCV000492034 RCV000587688 RCV000629990 RCV000986650 RCV003998482

NM_000251.3(MSH2):c.481G>A (p.Val161Ile)

SNV
Germline

Chr2:47410208

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA021193

rs_149511545

12 SubmittersRCV000160612 RCV000212587 RCV000477198 RCV001002118 RCV003444208 RCV004734754

NM_000251.3(MSH2):c.544G>T (p.Asp182Tyr)

SNV
Germline

Chr2:47410271

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021347

rs_730881770

6 SubmittersRCV000160614 RCV001024126 RCV001348083 RCV005055651 RCV005025245

NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)

SNV
Germline

Chr2:47410293

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Mismatch repair cancer syndrome 2
Lynch syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021433

rs_141021599

12 SubmittersRCV000233177 RCV000410808 RCV000565216 RCV000590509 RCV001251062 RCV003483528 RCV002478486 RCV003998484

NM_000251.3(MSH2):c.581T>C (p.Ile194Thr)

SNV
Germline

Chr2:47410308

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021473

rs_730881778

9 SubmittersRCV000160638 RCV000212589 RCV000556928 RCV001356798 RCV004567214

NM_000251.3(MSH2):c.592G>T (p.Glu198Ter)

SNV
Germline

Chr2:47410319

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA021507

rs_587779166

5 SubmittersRCV000491751 RCV001212954 RCV003453269 RCV005031675

NM_000251.3(MSH2):c.701C>T (p.Thr234Ile)

SNV
Germline

Chr2:47412469

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA022053

rs_730881773

10 SubmittersRCV000160625 RCV000473583 RCV000562874 RCV000663301 RCV004806115 RCV005359370

NM_000251.3(MSH2):c.716A>G (p.Gln239Arg)

SNV
Germline

Chr2:47412484

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA022091

rs_199676483

17 SubmittersRCV000160626 RCV000198252 RCV000411135 RCV000491808 RCV000656873 RCV000708828 RCV005359371

NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)

SNV
Germline

Chr2:47412534

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA022219

rs_377403073

11 SubmittersRCV000160627 RCV000196535 RCV000491536 RCV000662661 RCV002265637 RCV005394556

NM_000251.3(MSH2):c.898A>G (p.Met300Val)

SNV
Germline

Chr2:47414374

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA022496

rs_730881753

5 SubmittersRCV000160578 RCV000203837 RCV002444666 RCV003467247

NM_000251.3(MSH2):c.1139T>C (p.Leu380Ser)

SNV
Germline

Chr2:47429804

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017337

rs_730881755

6 SubmittersRCV000160581 RCV000203771 RCV000215764 RCV000780458 RCV004806114

NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu)

SNV
Germline

Chr2:47429854

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Lynch syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA017431

rs_63750611

11 SubmittersRCV000160634 RCV000233011 RCV000491315 RCV001257466 RCV001269197 RCV003998485 RCV005025246

NM_000251.3(MSH2):c.1276+11A>G

SNV
Germline

Chr2:47429952

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA017737

rs_189015988

7 SubmittersRCV000160644 RCV000410246 RCV000580774 RCV002053928 RCV005359373

NM_000251.3(MSH2):c.1382A>C (p.Asp461Ala)

SNV
Germline

Chr2:47445653

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018117

rs_730881756

9 SubmittersRCV000160583 RCV000198641 RCV000492025 RCV000662679 RCV002265636 RCV003998470

NM_000251.3(MSH2):c.1483A>G (p.Thr495Ala)

SNV
Germline

Chr2:47463127

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018401

rs_730881757

5 SubmittersRCV000160587 RCV000573867 RCV000821313 RCV003998471

NM_000251.3(MSH2):c.1530G>C (p.Gln510His)

SNV
Germline

Chr2:47466677

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA018560

rs_587782355

12 SubmittersRCV000160591 RCV000235175 RCV000548522 RCV001137232 RCV003998473 RCV004544469 RCV006268640

NM_000251.3(MSH2):c.1571G>A (p.Arg524His)

SNV
Germline

Chr2:47466718

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Breast carcinoma
Breast and/or ovarian cancer
Lynch syndrome 1
Muir-Torré syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA018637

rs_63751207

13 SubmittersRCV000160592 RCV000218047 RCV000228006 RCV000708832 RCV002243830 RCV003492653 RCV003467248 RCV005359367 RCV005025244

NM_000251.3(MSH2):c.1617T>A (p.Phe539Leu)

SNV
Germline

Chr2:47466764

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018746

rs_730881759

6 SubmittersRCV000160593 RCV000774571 RCV001067826 RCV003462090 RCV003998474

NM_000251.3(MSH2):c.1813G>A (p.Val605Ile)

SNV
Germline

Chr2:47475078

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA019367

rs_730881777

8 SubmittersRCV000160636 RCV000212610 RCV000462601 RCV000986680 RCV004700495

NM_000251.3(MSH2):c.1973A>G (p.Glu658Gly)

SNV
Germline

Chr2:47475238

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019625

rs_200827721

3 SubmittersRCV000160637 RCV001013808 RCV003998486

NM_000251.3(MSH2):c.2041C>G (p.Gln681Glu)

SNV
Germline

Chr2:47476402

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019878

rs_730881762

8 SubmittersRCV000160598 RCV000203996 RCV001014194 RCV003467249 RCV003998476

NM_000251.3(MSH2):c.2043A>T (p.Gln681His)

SNV
Germline

Chr2:47476404

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019887

rs_730881763

5 SubmittersRCV000160599 RCV000219973 RCV000813805 RCV004567209

NM_000251.3(MSH2):c.2110A>G (p.Ile704Val)

SNV
Germline

Chr2:47476471

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020041

rs_730881764

8 SubmittersRCV000160601 RCV000590168 RCV000796598 RCV002247555 RCV003998477 RCV004734753

NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr)

SNV
Germline

Chr2:47476481

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Malignant tumor of breast
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

Criteria Provided
Conflicting Classifications

CA020070

rs_373226409

14 SubmittersRCV000160602 RCV000410402 RCV000491763 RCV000761096 RCV001085231 RCV001193853 RCV001354130 RCV004813065

NM_000251.3(MSH2):c.2171C>T (p.Thr724Met)

SNV
Germline

Chr2:47476532

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020167

rs_63751125

5 SubmittersRCV000160603 RCV000492028 RCV000629694 RCV003462091 RCV003998478

NM_000251.3(MSH2):c.2288C>T (p.Ala763Val)

SNV
Germline

Chr2:47478349

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020406

rs_144412585

6 SubmittersRCV000160609 RCV000218725 RCV000456427 RCV003453268

NM_000251.3(MSH2):c.2377C>G (p.Gln793Glu)

SNV
Germline

Chr2:47478438

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020523

rs_730881769

9 SubmittersRCV000160611 RCV000212618 RCV000542071 RCV000656881 RCV001357332 RCV004567212

NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)

SNV
Germline

Chr2:47480774

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Condition: not provided
Hereditary cancer
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA020697

rs_140754514

14 SubmittersRCV000160621 RCV000168241 RCV000235176 RCV000663089 RCV000656883 RCV004700494 RCV005359369

NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu)

SNV
Germline

Chr2:47480843

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
not specified
Carcinoma of colon
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020801

rs_730881772

12 SubmittersRCV000203841 RCV000565478 RCV000708846 RCV000759828 RCV001193897 RCV001354344 RCV003467250

NM_000179.3(MSH6):c.-6G>T

SNV
Germline

Chr2:47783228

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Lynch syndrome
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA016277

rs_730881822

8 SubmittersRCV000160736 RCV000580307 RCV001311926 RCV003315963 RCV003998518 RCV005365052

NM_000179.3(MSH6):c.67G>A (p.Ala23Thr)

SNV
Germline/somatic

Chr2:47783300

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch-like syndrome
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA016226

rs_730881810

13 SubmittersRCV000160706 RCV000212626 RCV000464022 RCV000780487 RCV001249978 RCV003998508 RCV004567219 RCV005600761

NM_000179.3(MSH6):c.97C>T (p.Arg33Cys)

SNV
Germline

Chr2:47783330

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016738

rs_730881811

5 SubmittersRCV000160708 RCV000490935 RCV001043688 RCV003320579 RCV003998509

NM_000179.3(MSH6):c.532C>T (p.Arg178Cys)

SNV
Germline

Chr2:47795968

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Hereditary breast ovarian cancer syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015802

rs_730881813

14 SubmittersRCV000160711 RCV000217717 RCV000456306 RCV000986705 RCV000781604 RCV001030488 RCV003467255 RCV003998510

NM_000179.3(MSH6):c.728G>A (p.Arg243His)

SNV
Germline

Chr2:47798711

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Lynch syndrome
Endometrial carcinoma
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA016346

rs_370157832

12 SubmittersRCV000160655 RCV000459365 RCV000568587 RCV001030489 RCV001270441 RCV003462092 RCV003230421 RCV005420574

NM_000179.3(MSH6):c.831A>C (p.Glu277Asp)

SNV
Germline

Chr2:47798814

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
not specified
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA016522

rs_374486449

16 SubmittersRCV000160656 RCV000196039 RCV000235181 RCV000411901 RCV000781597 RCV002484996 RCV003462093 RCV003998490 RCV004535042

NM_000179.3(MSH6):c.866G>C (p.Gly289Ala)

SNV
Germline

Chr2:47798849

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016568

rs_368318845

8 SubmittersRCV000160658 RCV000581246 RCV001220946 RCV004567215 RCV004806116

NM_000179.3(MSH6):c.979A>G (p.Thr327Ala)

SNV
Germline

Chr2:47798962

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016717

rs_730881814

6 SubmittersRCV000160712 RCV000214500 RCV000499861 RCV000818095 RCV004806122

NM_000179.3(MSH6):c.1050C>T (p.Ala350=)

SNV
Germline

Chr2:47799033

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA007877

rs_730881802

20 SubmittersRCV000160690 RCV000212643 RCV000409759 RCV000586411 RCV001080910 RCV001356437 RCV003149978 RCV003998501

NM_000179.3(MSH6):c.1054G>A (p.Val352Ile)

SNV
Germline

Chr2:47799037

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary breast ovarian cancer syndrome
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA007915

rs_730881787

15 SubmittersRCV000160662 RCV000656893 RCV000780471 RCV000986713 RCV001082336 RCV003323296 RCV005089799 RCV005359374 RCV004739503

NM_000179.3(MSH6):c.1061G>T (p.Gly354Val)

SNV
Germline

Chr2:47799044

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Breast and/or ovarian cancer
not specified
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA007928

rs_730881788

13 SubmittersRCV000160663 RCV000198861 RCV000212644 RCV000662570 RCV001798553 RCV002271427 RCV003998491 RCV004739504

NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)

SNV
Germline

Chr2:47799173

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Lynch syndrome
Hereditary breast ovarian cancer syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA008291

rs_63750065

18 SubmittersRCV000160665 RCV000206352 RCV000565934 RCV000656894 RCV000662428 RCV000708864 RCV001030492 RCV002484997 RCV004567216

NM_000179.3(MSH6):c.1214C>G (p.Ser405Cys)

SNV
Germline

Chr2:47799197

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008320

rs_730881790

7 SubmittersRCV000160666 RCV000195871 RCV000563544 RCV000780479 RCV003998492

NM_000179.3(MSH6):c.1618C>G (p.Leu540Val)

SNV
Germline

Chr2:47799601

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008916

rs_201996928

5 SubmittersRCV000160667 RCV000468959 RCV000491381 RCV004806119

NM_000179.3(MSH6):c.1661G>A (p.Arg554His)

SNV
Germline

Chr2:47799644

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA009015

rs_730881791

10 SubmittersRCV000160668 RCV000571101 RCV000560061 RCV000708869 RCV000767214 RCV005031676

NM_000179.3(MSH6):c.1667A>G (p.Tyr556Cys)

SNV
Germline

Chr2:47799650

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Endometrial carcinoma
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA009030

rs_63751312

9 SubmittersRCV000160669 RCV000811291 RCV001012627 RCV001354487 RCV004567217 RCV004806120 RCV005888576

NM_000179.3(MSH6):c.1757T>C (p.Val586Ala)

SNV
Germline

Chr2:47799740

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009128

rs_730881792

6 SubmittersRCV000160670 RCV000545304 RCV000774598 RCV000781596 RCV003998493

NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter)

SNV
Germline

Chr2:47799788

Pathogenic

Condition: not provided
Lynch syndrome
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
MSH6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA009231

rs_730881816

11 SubmittersRCV000160715 RCV000231648 RCV000409404 RCV000491316 RCV000627696 RCV004739507

NM_000179.3(MSH6):c.1822A>G (p.Ile608Val)

SNV
Germline

Chr2:47799805

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009270

rs_201613780

12 SubmittersRCV000196510 RCV000491442 RCV000589796 RCV000757926 RCV002271428 RCV005600758

NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)

SNV
Germline

Chr2:47799827

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
not specified
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 3
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA009314

rs_730881793

17 SubmittersRCV000160673 RCV000212653 RCV000304378 RCV000410091 RCV000524120 RCV001193697 RCV001798554 RCV005359375 RCV004739505

NM_000179.3(MSH6):c.1974G>A (p.Val658=)

SNV
Germline

Chr2:47799957

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009504

rs_372916347

10 SubmittersRCV000160674 RCV000212655 RCV001083661 RCV002271429 RCV003998494 RCV005420575

NM_000179.3(MSH6):c.1999G>C (p.Asp667His)

SNV
Germline

Chr2:47799982

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009534

rs_151086192

8 SubmittersRCV000160675 RCV000214441 RCV000233389 RCV000662835 RCV003998495

NM_000179.3(MSH6):c.2141C>G (p.Ser714Cys)

SNV
Germline

Chr2:47800124

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA009720

rs_730881796

11 SubmittersRCV000160678 RCV000212658 RCV000542696 RCV001174633 RCV003467252 RCV004806121 RCV005600759 RCV005394557

NM_000179.3(MSH6):c.2249C>A (p.Thr750Lys)

SNV
Germline

Chr2:47800232

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009894

rs_730881817

8 SubmittersRCV000205769 RCV000491170 RCV000587383 RCV000663327 RCV004567220

NM_000179.3(MSH6):c.2260A>C (p.Thr754Pro)

SNV
Germline

Chr2:47800243

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009921

rs_545057945

7 SubmittersRCV000160679 RCV000821022 RCV000772630 RCV003998496 RCV005600760

NM_000179.3(MSH6):c.2341C>A (p.Pro781Thr)

SNV
Germline

Chr2:47800324

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010074

rs_587779235

5 SubmittersRCV000160680 RCV000491573 RCV000659892 RCV001850271 RCV006259068

NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys)

SNV
Germline

Chr2:47800400

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010210

rs_372990379

12 SubmittersRCV000160717 RCV000409643 RCV000570608 RCV000629702 RCV001354913 RCV001582637 RCV003998511

NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn)

SNV
Germline

Chr2:47800647

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA010696

rs_730881798

12 SubmittersRCV000160683 RCV000205971 RCV000759138 RCV000781587 RCV001142302 RCV003998497 RCV003462094

NM_000179.3(MSH6):c.2940A>G (p.Glu980=)

SNV
Germline

Chr2:47800923

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011134

rs_730881818

13 SubmittersRCV000160724 RCV000491957 RCV000679230 RCV001084653 RCV001142303 RCV003998514

NM_000179.3(MSH6):c.2941A>G (p.Ile981Val)

SNV
Germline

Chr2:47800924

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 1

Criteria Provided
Conflicting Classifications

CA011143

rs_730881799

8 SubmittersRCV000160684 RCV000469541 RCV000565911 RCV002247557 RCV003462095 RCV005863010

NM_000179.3(MSH6):c.2992T>A (p.Ser998Thr)

SNV
Germline

Chr2:47800975

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA011310

rs_730881800

9 SubmittersRCV000160685 RCV000168112 RCV000579908 RCV000662434 RCV003998498 RCV005394558

NM_000179.3(MSH6):c.3071G>A (p.Arg1024Gln)

SNV
Germline

Chr2:47801054

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011493

rs_372705506

8 SubmittersRCV000160686 RCV000212674 RCV000411475 RCV000475900 RCV000766283 RCV003998499

NM_000179.3(MSH6):c.3104G>T (p.Arg1035Leu)

SNV
Germline

Chr2:47801087

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA011566

rs_730881801

9 SubmittersRCV000160688 RCV000198759 RCV000223597 RCV001175452 RCV003462096 RCV003998500 RCV005420576

NM_000179.3(MSH6):c.3111C>G (p.Phe1037Leu)

SNV
Germline

Chr2:47801094

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA011584

rs_587781673

6 SubmittersRCV000160689 RCV000564450 RCV000691133 RCV005420577

NM_000179.3(MSH6):c.3220A>G (p.Met1074Val)

SNV
Germline

Chr2:47803467

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome
Endometrial carcinoma
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA012035

rs_730881804

10 SubmittersRCV000232219 RCV000562784 RCV000587626 RCV003488409 RCV003998502 RCV004567218 RCV004739506

NM_000179.3(MSH6):c.3439-10T>A

SNV
Germline

Chr2:47804900

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
MSH6-related disorder
Cervical cancer

Criteria Provided
Conflicting Classifications

CA012890

rs_730881819

13 SubmittersRCV000160728 RCV000227561 RCV000410182 RCV000580444 RCV003477576 RCV003998515 RCV004535044 RCV005888577

NM_000179.3(MSH6):c.3517G>A (p.Val1173Met)

SNV
Germline

Chr2:47804988

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013259

rs_730881806

7 SubmittersRCV000160695 RCV000464912 RCV000573393 RCV003998503

NM_000179.3(MSH6):c.3686A>G (p.Asn1229Ser)

SNV
Germline

Chr2:47806243

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013811

rs_730881807

9 SubmittersRCV000160697 RCV000226708 RCV000564770 RCV000663071 RCV001175454 RCV003467253 RCV003998504

NM_000179.3(MSH6):c.4039G>C (p.Ala1347Pro)

SNV
Germline

Chr2:47806816

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Breast and/or ovarian cancer
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015325

rs_730881809

11 SubmittersRCV000160703 RCV000229406 RCV000576090 RCV000663168 RCV000766290 RCV001798555 RCV003462097 RCV003998506

NM_000179.3(MSH6):c.4068G>C (p.Leu1356Phe)

SNV
Germline

Chr2:47806845

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015417

rs_192740549

9 SubmittersRCV000160704 RCV000168081 RCV000212694 RCV000662520 RCV003330517 RCV003998507

NM_000249.4(MLH1):c.-14C>T

SNV
Germline

Chr3:36993534

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA005596

rs_730881744

5 SubmittersRCV000160546 RCV000776169 RCV005359365 RCV003998467

NM_000249.4(MLH1):c.5C>T (p.Ser2Leu)

SNV
Germline

Chr3:36993552

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified

Criteria Provided
Conflicting Classifications

CA011236

rs_587779029

12 SubmittersRCV000160548 RCV000221241 RCV000555345 RCV000708910 RCV001147827 RCV002229427

NM_000249.4(MLH1):c.362A>G (p.Asp121Gly)

SNV
Germline

Chr3:37004456

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009916

rs_730881735

6 SubmittersRCV000160519 RCV000580426 RCV001239323 RCV003998463

NM_000249.4(MLH1):c.371G>A (p.Cys124Tyr)

SNV
Germline

Chr3:37004465

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA009937

rs_730881736

8 SubmittersRCV000160520 RCV000475201 RCV000573907 RCV003998464 RCV005025243 RCV005600756

NM_000249.4(MLH1):c.776T>C (p.Leu259Ser)

SNV
Germline

Chr3:37014530

Conflicting classifications of pathogenicity

Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012003

rs_56250509

11 SubmittersRCV000160527 RCV000411294 RCV000525411 RCV000562377 RCV000780420 RCV003998465

NM_000249.4(MLH1):c.843A>C (p.Ala281=)

SNV
Germline

Chr3:37017558

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
MLH1-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012580

rs_146796765

16 SubmittersRCV000160556 RCV000212527 RCV000586205 RCV001145068 RCV001079243 RCV001798552 RCV003952800 RCV003998468

NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn)

SNV
Germline

Chr3:37025841

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Breast and/or ovarian cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA004818

rs_373767220

10 SubmittersRCV000160532 RCV000198513 RCV000212533 RCV000515376 RCV003149975 RCV003467246 RCV004806113 RCV006268639

NM_000249.4(MLH1):c.1628A>G (p.His543Arg)

SNV
Germline

Chr3:37040255

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Endometrial carcinoma
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA006185

rs_730881742

11 SubmittersRCV000160537 RCV000206589 RCV000212541 RCV000409504 RCV001354460 RCV003998466 RCV005031674 RCV005237596

NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter)

SNV
Germline

Chr3:37048979

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA008366

rs_41542214

5 SubmittersRCV000160542 RCV000531300 RCV000708931 RCV002415704 RCV003453267

NM_000535.7(PMS2):c.751G>A (p.Val251Met)

SNV
Germline

Chr7:5997378

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
PMS2-related disorder
Lynch syndrome
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA012744

rs_142434011

15 SubmittersRCV000160885 RCV000206870 RCV000587187 RCV000567432 RCV003462102 RCV003927529 RCV003998523 RCV005888580

NM_000535.7(PMS2):c.706-13T>C

SNV
Germline

Chr7:5997436

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012608

rs_730881918

6 SubmittersRCV000160899 RCV001187146 RCV001354065 RCV003998527 RCV005420581

NM_000535.7(PMS2):c.647G>T (p.Cys216Phe)

SNV
Germline

Chr7:5999166

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012464

rs_730881908

8 SubmittersRCV000160882 RCV000574055 RCV000629988 RCV000781737 RCV004567223 RCV003998520

NM_000535.7(PMS2):c.506G>A (p.Arg169His)

SNV
Germline/somatic

Chr7:6002484

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 1
PMS2-related disorder
Lynch syndrome 4
not specified

Criteria Provided
Conflicting Classifications

CA012229

rs_730881917

11 SubmittersRCV000160898 RCV000215633 RCV000465290 RCV000758687 RCV000765966 RCV003416029 RCV003454388 RCV006273576

NM_000535.7(PMS2):c.241G>A (p.Glu81Lys)

SNV
Germline

Chr7:6003981

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
not specified
Mismatch repair cancer syndrome 4
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA011475

rs_730881919

15 SubmittersRCV000160904 RCV000206458 RCV000575606 RCV000662544 RCV000781760 RCV003315414 RCV003998530 RCV005042321

NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)

SNV
Germline

Chr7:6004007

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA010938

rs_730881915

9 SubmittersRCV000168187 RCV000656942 RCV000663221 RCV000567463 RCV001316571

NM_000535.7(PMS2):c.2T>A (p.Met1Lys)

SNV
Germline

Chr7:6009018

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 1
PMS2-related disorder
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA011803

rs_587780059

18 SubmittersRCV000160895 RCV000212834 RCV000500749 RCV000781734 RCV000763593 RCV003407599 RCV004017444 RCV005208550

NM_000179.3(MSH6):c.1668T>C (p.Tyr556=)

SNV
Germline

Chr2:47799651

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA009044

rs_730882130

11 SubmittersRCV000161937 RCV000164263 RCV000426588 RCV000627737 RCV001697086 RCV003998535 RCV004544474

NM_001048174.2(MUTYH):c.730C>T (p.Pro244Ser)

SNV
Germline

Chr1:45332285

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014368

rs_786201772

8 SubmittersRCV000164236 RCV000411809 RCV002463653 RCV006259096

NM_000251.3(MSH2):c.-181G>A

SNV
Germline

Chr2:47403011

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Familial cancer of breast
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA021770

rs_786201698

7 SubmittersRCV000164108 RCV000410088 RCV001346811 RCV001536270 RCV005359463 RCV002492654 RCV004535093

NM_000251.3(MSH2):c.51C>A (p.Val17=)

SNV
Germline

Chr2:47403242

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021282

rs_397515879

7 SubmittersRCV000165795 RCV000613219 RCV000920244 RCV003477619 RCV003995455

NM_000251.3(MSH2):c.73G>T (p.Gly25Cys)

SNV
Germline

Chr2:47403264

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA022143

rs_746259256

5 SubmittersRCV000165126 RCV000464538 RCV001762374 RCV002498818

NM_000251.3(MSH2):c.74G>A (p.Gly25Asp)

SNV
Germline

Chr2:47403265

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 1
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA022180

rs_767747378

10 SubmittersRCV000164134 RCV000525136 RCV001193893 RCV001762365 RCV003462126 RCV003995317 RCV005359466

NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)

SNV
Germline

Chr2:47403271

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary nonpolyposis colon cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022338

rs_750746034

13 SubmittersRCV000164692 RCV000228123 RCV000235224 RCV000412025 RCV001374485 RCV003226226 RCV003993847 RCV003995359

NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)

SNV
Germline

Chr2:47403280

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022507

rs_757892928

10 SubmittersRCV000164508 RCV000411131 RCV000233615 RCV001762369 RCV003114313 RCV004806131

NM_000251.3(MSH2):c.115C>A (p.Arg39=)

SNV
Germline

Chr2:47403306

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017385

rs_786202334

9 SubmittersRCV000165094 RCV000233469 RCV000427878 RCV000663112 RCV001704201 RCV003995390

NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)

SNV
Germline

Chr2:47403314

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017623

rs_761960690

11 SubmittersRCV000166062 RCV000228645 RCV000589227 RCV000662660 RCV001357474 RCV003995476

NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)

SNV
Germline

Chr2:47403351

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018738

rs_749212640

13 SubmittersRCV000164978 RCV000200570 RCV000663139 RCV000781570 RCV001589031 RCV003995379

NM_000251.3(MSH2):c.376G>A (p.Gly126Ser)

SNV
Germline

Chr2:47410103

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021086

rs_767371843

9 SubmittersRCV000166502 RCV000199020 RCV000515190 RCV003995507 RCV004589798 RCV004567305

NM_000251.3(MSH2):c.403C>G (p.Leu135Val)

SNV
Germline

Chr2:47410130

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021133

rs_193096019

14 SubmittersRCV000166792 RCV000546078 RCV000997136 RCV001357296 RCV002053989 RCV002267920 RCV002291583

NM_000251.3(MSH2):c.437G>T (p.Gly146Val)

SNV
Germline

Chr2:47410164

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021161

rs_772052262

8 SubmittersRCV000166585 RCV000205937 RCV000662555 RCV003995514

NM_000251.3(MSH2):c.606C>G (p.Pro202=)

SNV
Germline

Chr2:47410333

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH2-related disorder
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021556

rs_63750600

13 SubmittersRCV000162431 RCV000281902 RCV000423282 RCV000524416 RCV001079211 RCV003995195 RCV004535052 RCV005394568

NM_000251.3(MSH2):c.820A>G (p.Ile274Val)

SNV
Germline

Chr2:47414296

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
not specified
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA022377

rs_371944271

13 SubmittersRCV000167160 RCV000198455 RCV000587804 RCV000663108 RCV001248898 RCV003995565 RCV004535135

NM_000251.3(MSH2):c.830T>G (p.Leu277Ter)

SNV
Germline

Chr2:47414306

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA022392

rs_786203424

4 SubmittersRCV000166723 RCV001205245 RCV003454416

NM_000251.3(MSH2):c.964G>A (p.Gly322Ser)

SNV
Germline

Chr2:47416317

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022638

rs_773301485

11 SubmittersRCV000167081 RCV000199307 RCV000588197 RCV003468799 RCV003995555

NM_000251.3(MSH2):c.968C>T (p.Ser323Phe)

SNV
Germline

Chr2:47416321

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022667

rs_63750732

12 SubmittersRCV000166896 RCV000472836 RCV000590192 RCV000662856 RCV004535130 RCV003995543

NM_000251.3(MSH2):c.1032G>C (p.Gln344His)

SNV
Germline

Chr2:47416385

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016922

rs_375799148

5 SubmittersRCV000163983 RCV000473165 RCV003462124 RCV003995306

NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg)

SNV
Germline

Chr2:47416396

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA016968

rs_773177076

9 SubmittersRCV000167409 RCV000410781 RCV000700524 RCV001355074 RCV001731496 RCV003128589

NM_000251.3(MSH2):c.1166G>A (p.Arg389Gln)

SNV
Germline

Chr2:47429831

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA017397

rs_757276241

6 SubmittersRCV000167351 RCV000629828 RCV003329248 RCV003444210

NM_000251.3(MSH2):c.1315C>T (p.Pro439Ser)

SNV
Germline

Chr2:47445586

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017943

rs_786203116

6 SubmittersRCV000166280 RCV000197715 RCV000985794 RCV003995495

NM_000251.3(MSH2):c.1351C>T (p.Gln451Ter)

SNV
Germline

Chr2:47445622

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA018061

rs_786201066

4 SubmittersRCV000162487 RCV000202208 RCV000629700 RCV003454394

NM_000251.3(MSH2):c.1387-4G>C

SNV
Germline

Chr2:47463027

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA018191

rs_376796243

10 SubmittersRCV000162829 RCV000590179 RCV001086424 RCV004535061 RCV005246683 RCV005406860

NM_000251.3(MSH2):c.1413A>C (p.Lys471Asn)

SNV
Germline

Chr2:47463057

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018242

rs_745874745

7 SubmittersRCV000166506 RCV000629905 RCV001355772 RCV003477630 RCV003995508

NM_000251.3(MSH2):c.1484C>T (p.Thr495Ile)

SNV
Germline

Chr2:47463128

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018409

rs_756516114

5 SubmittersRCV000164768 RCV000167935 RCV000486548 RCV003995363

NM_000251.3(MSH2):c.1597C>G (p.Leu533Val)

SNV
Germline

Chr2:47466744

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA018694

rs_786202987

6 SubmittersRCV000166086 RCV000689634 RCV000761063 RCV005365083

NM_000251.3(MSH2):c.1686G>C (p.Glu562Asp)

SNV
Germline

Chr2:47470989

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA019004

rs_786203850

7 SubmittersRCV000167337 RCV000464235 RCV000482582 RCV003995584 RCV004567342 RCV005406873

NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly)

SNV
Germline

Chr2:47471009

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019085

rs_786201077

10 SubmittersRCV000162561 RCV000168102 RCV000585899 RCV000663034 RCV000761166 RCV004777607

NM_000251.3(MSH2):c.1760-3C>T

SNV
Germline

Chr2:47475022

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019215

rs_786202843

7 SubmittersRCV000165870 RCV000204380 RCV000759825 RCV003995461 RCV005246726

NM_000251.3(MSH2):c.1784T>G (p.Leu595Arg)

SNV
Germline

Chr2:47475049

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA019291

rs_786201590

4 SubmittersRCV000163932 RCV000554840 RCV001267891

NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)

SNV
Germline

Chr2:47475055

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
not specified
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA019316

rs_548407418

14 SubmittersRCV000162476 RCV000167995 RCV000409730 RCV000480972 RCV000781560 RCV000708834 RCV004535054

NM_000251.3(MSH2):c.1828C>T (p.His610Tyr)

SNV
Germline

Chr2:47475093

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019408

rs_267607980

7 SubmittersRCV000163537 RCV000484226 RCV000657098 RCV000794229 RCV003467279 RCV003995260

NM_000251.3(MSH2):c.1854A>G (p.Pro618=)

SNV
Germline

Chr2:47475119

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA019442

rs_786203744

9 SubmittersRCV000167180 RCV000195465 RCV000662377 RCV001721089 RCV003995571 RCV004700515

NM_000251.3(MSH2):c.1863A>T (p.Arg621=)

SNV
Germline

Chr2:47475128

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019465

rs_786203119

8 SubmittersRCV000166283 RCV000679298 RCV001083110 RCV003995496 RCV005246730

NM_000251.3(MSH2):c.1897A>G (p.Ile633Val)

SNV
Germline

Chr2:47475162

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019526

rs_771695599

11 SubmittersRCV000163067 RCV000168408 RCV000662475 RCV000759104 RCV001804892 RCV003995232

NM_000251.3(MSH2):c.1939G>C (p.Glu647Gln)

SNV
Germline

Chr2:47475204

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA019596

rs_63750078

5 SubmittersRCV000165743 RCV000529191 RCV003332132 RCV004567283 RCV006452465

NM_000251.3(MSH2):c.1945G>A (p.Ala649Thr)

SNV
Germline

Chr2:47475210

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019600

rs_786201822

5 SubmittersRCV000164307 RCV001059239 RCV001762366 RCV003467289

NM_000251.3(MSH2):c.2006-4G>A

SNV
Germline

Chr2:47476363

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1

Criteria Provided
Conflicting Classifications

CA019756

rs_369853630

13 SubmittersRCV000162418 RCV000202240 RCV000409960 RCV000679300 RCV001083364 RCV001198846

NM_000251.3(MSH2):c.2015T>G (p.Met672Arg)

SNV
Germline

Chr2:47476376

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019820

rs_786203126

7 SubmittersRCV000166295 RCV000468110 RCV003227685 RCV003995498 RCV004567299

NM_000251.3(MSH2):c.2038C>G (p.Arg680Gly)

SNV
Germline

Chr2:47476399

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019866

rs_63749932

9 SubmittersRCV000165747 RCV000589676 RCV000693732 RCV003995449 RCV004567284

NM_000251.3(MSH2):c.2043A>G (p.Gln681=)

SNV
Germline

Chr2:47476404

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Lynch syndrome
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
not specified

Criteria Provided
Conflicting Classifications

CA019883

rs_730881763

11 SubmittersRCV000163402 RCV000679301 RCV001085062 RCV003149999 RCV003995254 RCV005246690 RCV005394586 RCV006452459

NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)

SNV
Germline

Chr2:47476451

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer

Reviewed By Expert Panel

CA019995

rs_63750398

5 SubmittersRCV000167253 RCV000490613 RCV000817438 RCV001270946

NM_000251.3(MSH2):c.2106G>A (p.Val702=)

SNV
Germline

Chr2:47476467

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020029

rs_786201108

7 SubmittersRCV000162679 RCV000831558 RCV001078875 RCV001140257 RCV003995211

NM_000251.3(MSH2):c.2271C>T (p.Tyr757=)

SNV
Germline

Chr2:47478332

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Breast and/or ovarian cancer
Malignant tumor of breast
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020386

rs_56076152

16 SubmittersRCV000163040 RCV000759113 RCV001080852 RCV001140259 RCV001358733 RCV001798566 RCV001357863 RCV004535062 RCV003995227

NM_000251.3(MSH2):c.2296A>G (p.Ile766Val)

SNV
Germline

Chr2:47478357

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020456

rs_374399939

7 SubmittersRCV000165690 RCV000202197 RCV000766654 RCV000798203 RCV003462184 RCV004806138

NM_000251.3(MSH2):c.2354A>C (p.His785Pro)

SNV
Germline

Chr2:47478415

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020494

rs_200252727

12 SubmittersRCV000165012 RCV000196615 RCV000522265 RCV000587565 RCV003462160 RCV003995381 RCV004734760

NM_000251.3(MSH2):c.2528G>A (p.Cys843Tyr)

SNV
Germline

Chr2:47480765

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome
Lynch syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA020680

rs_747700106

10 SubmittersRCV000166329 RCV000232782 RCV001194027 RCV001594863 RCV003995501 RCV005246733 RCV005396487

NM_000251.3(MSH2):c.2684C>G (p.Pro895Arg)

SNV
Germline

Chr2:47482828

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020884

rs_786203553

5 SubmittersRCV000166913 RCV000484021 RCV001058479 RCV004567319

NM_000251.3(MSH2):c.2717T>G (p.Ile906Arg)

SNV
Germline

Chr2:47482861

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020901

rs_587780687

5 SubmittersRCV000167178 RCV000706985 RCV001356340 RCV003995570

NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)

SNV
Germline

Chr2:47783243

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Carcinoma of colon
Breast and/or ovarian cancer
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma
MSH6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA008028

rs_786201042

21 SubmittersRCV000162425 RCV000202232 RCV000199142 RCV000202528 RCV000524100 RCV001254934 RCV001353573 RCV001798562 RCV002478495 RCV003462113 RCV004528905

NM_000179.3(MSH6):c.33C>G (p.Phe11Leu)

SNV
Germline

Chr2:47783266

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
MSH6-related disorder
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA012766

rs_747802641

10 SubmittersRCV000166008 RCV000679237 RCV001085290 RCV001264551 RCV003995471 RCV004739532 RCV005420680

NM_000179.3(MSH6):c.43C>T (p.Pro15Ser)

SNV
Germline

Chr2:47783276

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015522

rs_776745497

6 SubmittersRCV000164343 RCV000793874 RCV001795287 RCV003462130 RCV004806129

NM_000179.3(MSH6):c.147C>T (p.Ala49=)

SNV
Germline

Chr2:47783380

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Carcinoma of colon
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008685

rs_768803986

15 SubmittersRCV000163365 RCV000679215 RCV001087499 RCV001139579 RCV001192486 RCV001357225 RCV003995251

NM_000179.3(MSH6):c.148T>C (p.Trp50Arg)

SNV
Germline

Chr2:47783381

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA008708

rs_374597395

9 SubmittersRCV000166759 RCV000203855 RCV001358151 RCV001548024 RCV002281987 RCV005235077

NM_000179.3(MSH6):c.255C>G (p.Pro85=)

SNV
Germline

Chr2:47783488

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA010396

rs_587779242

9 SubmittersRCV000163956 RCV000421645 RCV000544230 RCV003235081 RCV003995299 RCV005420624

NM_000179.3(MSH6):c.283T>G (p.Leu95Val)

SNV
Germline

Chr2:47790949

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA010990

rs_786202397

6 SubmittersRCV000165188 RCV000630219 RCV003105803 RCV003995400 RCV004586584

NM_000179.3(MSH6):c.503C>G (p.Ala168Gly)

SNV
Germline

Chr2:47795939

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA015744

rs_774162322

10 SubmittersRCV000164360 RCV000230583 RCV000485808 RCV000662903 RCV000657018 RCV003150015

NM_000179.3(MSH6):c.526A>G (p.Met176Val)

SNV
Germline

Chr2:47795962

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA015793

rs_750327994

5 SubmittersRCV000167309 RCV000535861 RCV003995581 RCV004739544

NM_000179.3(MSH6):c.743G>A (p.Arg248Gln)

SNV
Germline

Chr2:47798726

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA016402

rs_764870249

9 SubmittersRCV000164341 RCV000469980 RCV001775642 RCV002228583 RCV003995335 RCV005025254

NM_000179.3(MSH6):c.893G>A (p.Arg298Gln)

SNV
Germline/somatic

Chr2:47798876

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA016611

rs_765237563

16 SubmittersRCV000165781 RCV000168235 RCV000588989 RCV000758602 RCV003320582 RCV003468757 RCV005420673

NM_000179.3(MSH6):c.980C>G (p.Thr327Ser)

SNV
Germline

Chr2:47798963

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Breast and/or ovarian cancer
MSH6-related disorder
Lynch syndrome
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA016745

rs_369568820

12 SubmittersRCV000164123 RCV000204780 RCV000479969 RCV003137692 RCV003150013 RCV004528909 RCV003995316 RCV005359464

NM_000179.3(MSH6):c.989C>A (p.Ser330Ter)

SNV
Germline

Chr2:47798972

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA016771

rs_786202848

6 SubmittersRCV000165878 RCV001382641 RCV003454409 RCV003468759 RCV005025263

NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe)

SNV
Germline

Chr2:47799020

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA007847

rs_567785169

9 SubmittersRCV000167468 RCV000454816 RCV000524097 RCV000662908 RCV000657019

NM_000179.3(MSH6):c.1170T>C (p.Asp390=)

SNV
Germline

Chr2:47799153

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Condition: not provided
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA008223

rs_55882234

11 SubmittersRCV000165797 RCV000228538 RCV000602595 RCV000662624 RCV001311927 RCV004535119

NM_000179.3(MSH6):c.1238G>A (p.Trp413Ter)

SNV
Germline

Chr2:47799221

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Condition: not provided
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA008349

rs_786201049

5 SubmittersRCV000162446 RCV001044962 RCV001357169 RCV003233476 RCV003454390

NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)

SNV
Germline

Chr2:47799278

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
not specified
Lynch syndrome 5
Lynch syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA008453

rs_750528093

12 SubmittersRCV000162486 RCV000479506 RCV000553513 RCV000500646 RCV000582500 RCV003454393 RCV003995199 RCV004525833

NM_000179.3(MSH6):c.1347G>A (p.Leu449=)

SNV
Germline

Chr2:47799330

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008523

rs_786201760

10 SubmittersRCV000164216 RCV000409350 RCV000418542 RCV000534629 RCV001704192 RCV003995325

NM_000179.3(MSH6):c.1554C>T (p.Thr518=)

SNV
Germline

Chr2:47799537

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome
MSH6-related disorder
Lynch syndrome 5
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA008774

rs_786201471

11 SubmittersRCV000163707 RCV000205874 RCV000614181 RCV001707544 RCV003995275 RCV004739511 RCV005420613 RCV005394591

NM_000179.3(MSH6):c.1586G>T (p.Gly529Val)

SNV
Germline

Chr2:47799569

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008825

rs_786201964

7 SubmittersRCV000164520 RCV000204361 RCV003235082 RCV003462137 RCV003995346

NM_000179.3(MSH6):c.1732C>T (p.His578Tyr)

SNV
Germline

Chr2:47799715

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009101

rs_768854566

9 SubmittersRCV000164895 RCV000663227 RCV001037948 RCV002281982 RCV002255308 RCV004567256 RCV003995375

NM_000179.3(MSH6):c.1763A>G (p.His588Arg)

SNV
Germline

Chr2:47799746

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009144

rs_786202725

8 SubmittersRCV000165680 RCV000206412 RCV000662615 RCV001547984 RCV003462183 RCV005396485

NM_000179.3(MSH6):c.1794A>G (p.Lys598=)

SNV
Germline

Chr2:47799777

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009223

rs_786201210

8 SubmittersRCV000163091 RCV000458721 RCV001721034 RCV003995233 RCV005237601 RCV005420599

NM_000179.3(MSH6):c.1844G>T (p.Cys615Phe)

SNV
Germline

Chr2:47799827

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009321

rs_730881793

13 SubmittersRCV000165560 RCV000168072 RCV000479956 RCV002469035 RCV003462180 RCV003995427 RCV005420663

NM_000179.3(MSH6):c.1875C>A (p.Ser625=)

SNV
Germline

Chr2:47799858

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA009385

rs_63749886

5 SubmittersRCV000166130 RCV000932654 RCV004760412 RCV005420686

NM_000179.3(MSH6):c.1915G>A (p.Glu639Lys)

SNV
Germline

Chr2:47799898

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Endometrial carcinoma
MSH6-related disorder
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA009445

rs_143517321

15 SubmittersRCV000164891 RCV000200231 RCV000480270 RCV000524126 RCV000781602 RCV001094683 RCV003462152 RCV004528912 RCV005025258

NM_000179.3(MSH6):c.2168G>C (p.Gly723Ala)

SNV
Germline

Chr2:47800151

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009788

rs_759403696

6 SubmittersRCV000166842 RCV001041140 RCV001552358 RCV001797654 RCV003995537 RCV004567315

NM_000179.3(MSH6):c.2291C>A (p.Thr764Asn)

SNV
Germline

Chr2:47800274

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009966

rs_561198849

11 SubmittersRCV000163700 RCV000480884 RCV000662379 RCV000630065 RCV002307420 RCV003462122 RCV003995273

NM_000179.3(MSH6):c.2418C>T (p.Ser806=)

SNV
Germline

Chr2:47800401

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA010219

rs_770992427

11 SubmittersRCV000162791 RCV000178055 RCV000590110 RCV001082493 RCV003995219 RCV005420594

NM_000179.3(MSH6):c.2520C>T (p.Ser840=)

SNV
Germline

Chr2:47800503

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA010342

rs_781241667

4 SubmittersRCV000165662 RCV000693525 RCV001284517 RCV005420669

NM_000179.3(MSH6):c.2550C>A (p.Tyr850Ter)

SNV
Germline

Chr2:47800533

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA010381

rs_374230313

3 SubmittersRCV000166285 RCV003454413 RCV005089824

NM_000179.3(MSH6):c.2579C>T (p.Ser860Phe)

SNV
Germline

Chr2:47800562

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010453

rs_370412074

5 SubmittersRCV000164156 RCV000478111 RCV000693101 RCV003995320

NM_000179.3(MSH6):c.2624T>C (p.Met875Thr)

SNV
Germline

Chr2:47800607

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
not specified
Endometrial carcinoma
MSH6-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010617

rs_774774596

10 SubmittersRCV000164528 RCV000205577 RCV000662485 RCV001580460 RCV002271437 RCV003462138 RCV004739521 RCV004806132

NM_000179.3(MSH6):c.2701C>T (p.Arg901Cys)

SNV
Germline

Chr2:47800684

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5
not specified

Criteria Provided
Conflicting Classifications

CA010754

rs_772514245

8 SubmittersRCV000166149 RCV000456613 RCV001775649 RCV003462201 RCV003995483 RCV005600787 RCV005406872

NM_000179.3(MSH6):c.2875C>T (p.Arg959Cys)

SNV
Germline

Chr2:47800858

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011024

rs_751973865

8 SubmittersRCV000165958 RCV000214010 RCV000473325 RCV001526922 RCV003468765 RCV003995466

NM_000179.3(MSH6):c.2876G>A (p.Arg959His)

SNV
Germline/somatic

Chr2:47800859

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Lynch syndrome
Condition: not provided
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA011033

rs_757653982

12 SubmittersRCV000165726 RCV000204562 RCV000506421 RCV000662759 RCV000758673 RCV001840209 RCV003462188

NM_000179.3(MSH6):c.2950A>C (p.Asn984His)

SNV
Germline

Chr2:47800933

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
not specified
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA011176

rs_146359682

15 SubmittersRCV000166094 RCV000206584 RCV000524150 RCV000662779 RCV000759855 RCV001375566 RCV003462200

NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala)

SNV
Germline

Chr2:47800942

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA011202

rs_746631156

13 SubmittersRCV000166654 RCV000198691 RCV000214752 RCV000662610 RCV000764425 RCV000767216 RCV004567308 RCV005396491

NM_000179.3(MSH6):c.3113A>G (p.Tyr1038Cys)

SNV
Germline

Chr2:47801096

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA011594

rs_773357672

9 SubmittersRCV000165541 RCV000410356 RCV000483409 RCV000685194 RCV002267913 RCV005365081

NM_000179.3(MSH6):c.3215G>T (p.Gly1072Val)

SNV
Germline

Chr2:47803462

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011990

rs_781243845

5 SubmittersRCV000167108 RCV000213713 RCV000805949 RCV003995558

NM_000179.3(MSH6):c.3227G>A (p.Arg1076His)

SNV
Germline/somatic

Chr2:47803474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA012072

rs_779617676

12 SubmittersRCV000165943 RCV000198283 RCV000202247 RCV000588416 RCV000758680 RCV003462194 RCV005237623

NM_000179.3(MSH6):c.3246G>A (p.Pro1082=)

SNV
Germline

Chr2:47803493

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA012143

rs_3136351

20 SubmittersRCV000163801 RCV000202109 RCV000410558 RCV000724321 RCV001085889 RCV001798576 RCV003995283 RCV004535083

NM_000179.3(MSH6):c.3246G>C (p.Pro1082=)

SNV
Germline

Chr2:47803493

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012154

rs_3136351

8 SubmittersRCV000165764 RCV000231535 RCV000409954 RCV001194367 RCV003995454

NM_000179.3(MSH6):c.3328C>T (p.Pro1110Ser)

SNV
Germline

Chr2:47803575

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA012609

rs_374070511

6 SubmittersRCV000166804 RCV000701255 RCV003995533 RCV004719728

NM_000179.3(MSH6):c.3349T>C (p.Cys1117Arg)

SNV
Germline

Chr2:47803596

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA012661

rs_786202829

6 SubmittersRCV000165846 RCV001233478 RCV005031685 RCV005255571

NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)

SNV
Germline

Chr2:47804949

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
MSH6-related disorder
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA013029

rs_376799914

17 SubmittersRCV000165060 RCV000201982 RCV000410385 RCV000656900 RCV001082754 RCV003323297 RCV004739524 RCV005396480

NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)

SNV
Germline

Chr2:47804949

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA013053

rs_376799914

10 SubmittersRCV000164110 RCV000466573 RCV000506000 RCV000589252 RCV000663282 RCV005237610

NM_000179.3(MSH6):c.3619C>G (p.His1207Asp)

SNV
Germline

Chr2:47805680

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA013567

rs_760391254

5 SubmittersRCV000166850 RCV000484988 RCV000629789 RCV005396493

NM_000179.3(MSH6):c.3782C>T (p.Ala1261Val)

SNV
Germline

Chr2:47806339

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA014254

rs_773171352

6 SubmittersRCV000165125 RCV000459296 RCV001527033 RCV003995394 RCV004567261

NM_000179.3(MSH6):c.3801+5G>A

SNV
Germline

Chr2:47806363

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA014374

rs_201080919

13 SubmittersRCV000166530 RCV000203730 RCV000411771 RCV000524188 RCV000587152 RCV001260253

NM_000179.3(MSH6):c.3893A>G (p.Tyr1298Cys)

SNV
Germline

Chr2:47806543

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA014634

rs_786202520

6 SubmittersRCV000165367 RCV000482477 RCV000630080 RCV001262375 RCV003995412

NM_000179.3(MSH6):c.4000C>T (p.Arg1334Trp)

SNV
Germline

Chr2:47806650

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015093

rs_773763465

10 SubmittersRCV000163638 RCV000198598 RCV000409323 RCV000657088 RCV001706075 RCV003462121 RCV003995266

NM_000179.3(MSH6):c.4001+5C>G

SNV
Germline

Chr2:47806656

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA015172

rs_786202305

5 SubmittersRCV000165049 RCV000600753 RCV001352220 RCV005420653

NM_000179.3(MSH6):c.4002-4T>C

SNV
Germline

Chr2:47806775

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA015278

rs_370428032

11 SubmittersRCV000164128 RCV000412285 RCV000458512 RCV000859424 RCV001721060 RCV004535094

NM_000179.3(MSH6):c.4068G>A (p.Leu1356=)

SNV
Germline

Chr2:47806845

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
MSH6-related disorder
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA015408

rs_192740549

7 SubmittersRCV000167043 RCV000870729 RCV001818396 RCV002281065 RCV004535132 RCV005420705

NM_000179.3(MSH6):c.*3T>C

SNV
Germline

Chr2:47806863

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA015085

rs_786203308

4 SubmittersRCV000166555 RCV003477631 RCV005420703

NM_000249.4(MLH1):c.9C>G (p.Phe3Leu)

SNV
Germline

Chr3:36993556

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013506

rs_779759678

12 SubmittersRCV000165278 RCV000459216 RCV000483373 RCV001193240 RCV002291579 RCV003995409

NM_000249.4(MLH1):c.415C>G (p.Pro139Ala)

SNV
Germline

Chr3:37007025

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA010313

rs_779562531

11 SubmittersRCV000166916 RCV000204264 RCV000521531 RCV000524299 RCV000662504 RCV005365091

NM_000249.4(MLH1):c.452C>T (p.Thr151Met)

SNV
Germline

Chr3:37007062

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
MLH1-related disorder
Ovarian cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010475

rs_776969475

11 SubmittersRCV000165547 RCV000473875 RCV001569830 RCV003398846 RCV003153446 RCV003462179 RCV003995426

NM_000249.4(MLH1):c.454G>A (p.Val152Met)

SNV
Germline

Chr3:37008814

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010615

rs_748417604

7 SubmittersRCV000163977 RCV000222401 RCV000540116 RCV003447510 RCV003995305

NM_000249.4(MLH1):c.601G>C (p.Val201Leu)

SNV
Germline

Chr3:37012023

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
not specified
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA011246

rs_534184145

10 SubmittersRCV000165537 RCV000221109 RCV000472998 RCV000663069 RCV003995425 RCV005055660 RCV005359512

NM_000249.4(MLH1):c.682C>A (p.Leu228Met)

SNV
Germline

Chr3:37014436

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA011677

rs_751628735

15 SubmittersRCV000163166 RCV000202192 RCV000409697 RCV000558825 RCV000587335 RCV003995237 RCV004748610

NM_000249.4(MLH1):c.786C>G (p.Ile262Met)

SNV
Germline

Chr3:37014540

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA012058

rs_748553134

7 SubmittersRCV000167152 RCV000205244 RCV000479410 RCV001000651 RCV003995564 RCV004567332

NM_000249.4(MLH1):c.954C>A (p.His318Gln)

SNV
Germline

Chr3:37020379

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Familial cancer of breast
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013266

rs_146777069

7 SubmittersRCV000167219 RCV000702569 RCV001005036 RCV003468801 RCV003995574

NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu)

SNV
Germline/somatic

Chr3:37025701

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified

Criteria Provided
Conflicting Classifications

CA004353

rs_201673334

12 SubmittersRCV000162449 RCV000483837 RCV000476166 RCV000758575 RCV003462116 RCV005434661

NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)

SNV
Germline

Chr3:37025715

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA004380

rs_766904735

17 SubmittersRCV000166495 RCV000226857 RCV000484742 RCV000662540 RCV000708919 RCV000764487 RCV005230017 RCV005361016

NM_000249.4(MLH1):c.1191G>A (p.Leu397=)

SNV
Germline

Chr3:37025789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA004669

rs_35164771

8 SubmittersRCV000165602 RCV000536405 RCV001193242 RCV001709508 RCV003995438 RCV005246723

NM_000249.4(MLH1):c.1236C>T (p.Val412=)

SNV
Germline

Chr3:37025834

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA004803

rs_369576099

8 SubmittersRCV000163670 RCV000943642 RCV001147917 RCV001704174 RCV003995269 RCV005359434

NM_000249.4(MLH1):c.1303C>A (p.Pro435Thr)

SNV
Germline

Chr3:37025901

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004941

rs_786202922

4 SubmittersRCV000165992 RCV000808405 RCV004806140

NM_000249.4(MLH1):c.1370A>T (p.Glu457Val)

SNV
Germline

Chr3:37025968

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA005123

rs_786203236

5 SubmittersRCV000166461 RCV000701056 RCV003995504 RCV005025267

NM_000249.4(MLH1):c.1415G>A (p.Arg472Lys)

SNV
Germline

Chr3:37028789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
MLH1-related disorder
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA005379

rs_63750498

9 SubmittersRCV000162406 RCV000541695 RCV000588918 RCV003998540 RCV003467275 RCV004748609 RCV005359389

NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu)

SNV
Germline

Chr3:37028861

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA005541

rs_63750226

15 SubmittersRCV000164380 RCV000473679 RCV000455152 RCV000662426 RCV001529648 RCV003995339

NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn)

SNV
Germline

Chr3:37028888

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA005635

rs_771044689

14 SubmittersRCV000164523 RCV000205482 RCV000481882 RCV000663072 RCV000708926 RCV001526980

NM_000249.4(MLH1):c.1558+4C>T

SNV
Germline/somatic

Chr3:37028936

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA005849

rs_531873434

6 SubmittersRCV000167439 RCV000199499 RCV000418566 RCV000758645 RCV001535409

NM_000249.4(MLH1):c.1572G>T (p.Met524Ile)

SNV
Germline

Chr3:37040199

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA005977

rs_587779953

9 SubmittersRCV000167029 RCV000459950 RCV000521886 RCV000663082 RCV000764494 RCV003987389 RCV003995549

NM_000249.4(MLH1):c.1620G>A (p.Leu540=)

SNV
Germline

Chr3:37040247

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA006151

rs_786202409

7 SubmittersRCV000165205 RCV000547299 RCV001149458 RCV003995403 RCV004596086

NM_000249.4(MLH1):c.1642T>C (p.Tyr548His)

SNV
Germline

Chr3:37040269

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA006210

rs_780317287

8 SubmittersRCV000167107 RCV000818386 RCV003491914 RCV003995557 RCV004700514 RCV005867975

NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)

SNV
Germline

Chr3:37040294

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Familial cancer of breast
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colon cancer
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA006285

rs_63751596

9 SubmittersRCV000164556 RCV000822496 RCV002463655 RCV003477610 RCV004806133 RCV005237615 RCV005359479

NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe)

SNV
Germline

Chr3:37042290

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA006418

rs_786202693

14 SubmittersRCV000165630 RCV000229336 RCV000478918 RCV000662425 RCV001800495 RCV003995440 RCV005396484

NM_000249.4(MLH1):c.1743G>A (p.Pro581=)

SNV
Germline

Chr3:37047530

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
MLH1-related disorder
Lynch syndrome
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA006676

rs_567838745

14 SubmittersRCV000165449 RCV000420605 RCV000662457 RCV000759810 RCV001084862 RCV003975235 RCV003995418 RCV005359508

NM_000249.4(MLH1):c.1770A>C (p.Leu590Phe)

SNV
Germline

Chr3:37047557

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA006853

rs_769239969

9 SubmittersRCV000164192 RCV000685901 RCV003441761 RCV003995322 RCV005645028 RCV005420634 RCV005396467

NM_000249.4(MLH1):c.2002G>A (p.Glu668Lys)

SNV
Germline

Chr3:37048916

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA008155

rs_63750292

7 SubmittersRCV000167113 RCV000460446 RCV001552446 RCV003995560 RCV004567329

NM_000249.4(MLH1):c.2094A>G (p.Ser698=)

SNV
Germline

Chr3:37049008

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA008580

rs_786202433

9 SubmittersRCV000165242 RCV000226776 RCV000420728 RCV003995408 RCV005246718 RCV006259108

NM_000249.4(MLH1):c.2221C>A (p.Leu741Met)

SNV
Germline

Chr3:37050603

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA009131

rs_786203583

7 SubmittersRCV000166962 RCV000215072 RCV000560309 RCV003995546 RCV004567323

NM_000535.7(PMS2):c.*3G>A

SNV
Germline

Chr7:5973396

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
PMS2-related disorder
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012074

rs_776493195

9 SubmittersRCV000165323 RCV000506179 RCV000589954 RCV004786465 RCV004742292 RCV005420659

NM_000535.7(PMS2):c.*2C>T

SNV
Germline

Chr7:5973397

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011793

rs_764124442

6 SubmittersRCV000167363 RCV000507661 RCV001552440 RCV005425781

NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter)

SNV
Germline

Chr7:5973482

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA011600

rs_786201039

6 SubmittersRCV000162416 RCV000657711 RCV001066692 RCV003317111 RCV003454389

NM_000535.7(PMS2):c.2457G>T (p.Gly819=)

SNV
Germline

Chr7:5973531

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA011535

rs_786203315

5 SubmittersRCV000166569 RCV000793206 RCV005425773 RCV005365087

NM_000535.7(PMS2):c.2445G>A (p.Ser815=)

SNV
Germline

Chr7:5977588

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
not specified
Breast and/or ovarian cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA011510

rs_753199796

12 SubmittersRCV000163748 RCV000859086 RCV001084869 RCV000987819 RCV001420820 RCV003492679 RCV005394592

NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)

SNV
Germline

Chr7:5977686

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 4
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011316

rs_553286217

12 SubmittersRCV000165312 RCV000230774 RCV000222502 RCV000662655 RCV000767022 RCV001354621

NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys)

SNV
Germline

Chr7:5978624

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011125

rs_200824831

7 SubmittersRCV000165433 RCV000461355 RCV000759199 RCV003454404

NM_000535.7(PMS2):c.2174C>T (p.Ala725Val)

SNV
Germline

Chr7:5982824

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided
Lynch syndrome
not specified
Endometrial carcinoma
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA010984

rs_150630090

12 SubmittersRCV000164743 RCV000206423 RCV000410095 RCV000486892 RCV000761045 RCV000781746 RCV001358129 RCV004786458

NM_000535.7(PMS2):c.1981G>T (p.Glu661Ter)

SNV
Germline

Chr7:5986784

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA010597

rs_778531080

6 SubmittersRCV000165222 RCV001201579 RCV003454403 RCV004721281 RCV006263704

NM_000535.7(PMS2):c.1980C>T (p.Ala660=)

SNV
Germline

Chr7:5986785

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010587

rs_368928783

11 SubmittersRCV000163931 RCV000196833 RCV000436373 RCV000587189 RCV001084012 RCV003995296

NM_000535.7(PMS2):c.1929G>T (p.Gln643His)

SNV
Germline

Chr7:5986836

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA010468

rs_786203379

6 SubmittersRCV000166658 RCV000549602 RCV000218174 RCV004567309

NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)

SNV
Germline

Chr7:5987048

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided
not specified
Breast and/or ovarian cancer
PMS2-related disorder
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA010161

rs_63751211

15 SubmittersRCV000163099 RCV000199342 RCV000410142 RCV000512920 RCV000781750 RCV003149997 RCV003407602 RCV003995234 RCV005031677 RCV005359407

NM_000535.7(PMS2):c.1715C>T (p.Ala572Val)

SNV
Germline

Chr7:5987050

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
not specified
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA010152

rs_770625733

10 SubmittersRCV000167204 RCV000537772 RCV000679353 RCV001824658 RCV002465554 RCV003995573 RCV004742297

NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)

SNV
Germline

Chr7:5987051

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
not specified
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 4
Lynch syndrome
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA010143

rs_63751023

13 SubmittersRCV000165566 RCV000513405 RCV000662642 RCV001193214 RCV003150024 RCV003483538 RCV003995430 RCV005031683

NM_000535.7(PMS2):c.1705A>G (p.Thr569Ala)

SNV
Germline

Chr7:5987060

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
PMS2-related disorder
Lynch syndrome
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA010109

rs_762151417

10 SubmittersRCV000164382 RCV000231487 RCV003150960 RCV003223615 RCV003416035 RCV003995340 RCV005889608

NM_000535.7(PMS2):c.1673C>T (p.Thr558Ile)

SNV
Germline

Chr7:5987092

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
PMS2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010024

rs_114037612

7 SubmittersRCV000165670 RCV000463752 RCV000759198 RCV004742294 RCV004806137

NM_000535.7(PMS2):c.1632C>A (p.Asp544Glu)

SNV
Germline

Chr7:5987133

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009953

rs_786203439

6 SubmittersRCV000166744 RCV000525179 RCV003332134 RCV005361024

NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly)

SNV
Germline

Chr7:5987188

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009897

rs_143235330

9 SubmittersRCV000166743 RCV000462922 RCV000483914 RCV000780624 RCV004567313 RCV005042341

NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr)

SNV
Germline

Chr7:5987189

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009889

rs_63750686

11 SubmittersRCV000165677 RCV000227646 RCV000679352 RCV001175050 RCV002492663 RCV003462182 RCV003995445

NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)

SNV
Germline

Chr7:5987206

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 4
not specified
Breast and/or ovarian cancer
Lynch syndrome 5
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009861

rs_63751300

17 SubmittersRCV000164554 RCV000200307 RCV000411039 RCV000486349 RCV000515358 RCV000781744 RCV001798585 RCV003338434 RCV003995349 RCV005396474

NM_000535.7(PMS2):c.1519A>G (p.Ser507Gly)

SNV
Germline

Chr7:5987246

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA009797

rs_63751028

6 SubmittersRCV000165919 RCV000532007 RCV001775646 RCV003995464 RCV006273605

NM_000535.7(PMS2):c.1444A>G (p.Ser482Gly)

SNV
Germline

Chr7:5987321

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009691

rs_786203510

6 SubmittersRCV000166845 RCV000474121 RCV000522983 RCV003995538

NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly)

SNV
Germline

Chr7:5987333

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Malignant tumor of breast
Lynch syndrome 4
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009665

rs_144389038

9 SubmittersRCV000166020 RCV000200794 RCV000423126 RCV001354397 RCV000987830 RCV001721076 RCV003995472

NM_000535.7(PMS2):c.1417G>A (p.Glu473Lys)

SNV
Germline

Chr7:5987348

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA009646

rs_786203427

6 SubmittersRCV000166727 RCV000630121 RCV002466458 RCV003995528 RCV005042340

NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg)

SNV
Germline

Chr7:5987371

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009618

rs_141084758

9 SubmittersRCV000165567 RCV000546976 RCV000662635 RCV003995431 RCV004794370

NM_000535.7(PMS2):c.1372A>C (p.Thr458Pro)

SNV
Germline

Chr7:5987393

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009572

rs_779306532

6 SubmittersRCV000164358 RCV000486161 RCV000703974 RCV003230260 RCV003995336

NM_000535.7(PMS2):c.1364C>T (p.Ser455Phe)

SNV
Germline

Chr7:5987401

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009556

rs_748698776

9 SubmittersRCV000167069 RCV000226423 RCV000454673 RCV001753568 RCV003995554

NM_000535.7(PMS2):c.1344A>T (p.Gly448=)

SNV
Germline

Chr7:5987421

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009531

rs_759192470

11 SubmittersRCV000164596 RCV000229726 RCV000442013 RCV000998766 RCV003995352 RCV005396476 RCV005425768

NM_000535.7(PMS2):c.1303C>T (p.His435Tyr)

SNV
Germline

Chr7:5987462

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009489

rs_148956636

6 SubmittersRCV000164657 RCV000168171 RCV001582647 RCV003467302

NM_000535.7(PMS2):c.1280G>A (p.Arg427His)

SNV
Germline

Chr7:5987485

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 4
Condition: not provided
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009478

rs_112902065

12 SubmittersRCV000164844 RCV000206128 RCV000433523 RCV000987833 RCV001358227 RCV002485018

NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)

SNV
Germline

Chr7:5987497

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009455

rs_756883400

14 SubmittersRCV000164345 RCV000234512 RCV000486789 RCV000524430 RCV000657013 RCV005042328

NM_000535.7(PMS2):c.1170G>A (p.Ala390=)

SNV
Germline

Chr7:5987595

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009278

rs_755578413

16 SubmittersRCV000164461 RCV000232574 RCV000781743 RCV001080100 RCV001162266 RCV003150016 RCV005396471

NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)

SNV
Germline

Chr7:5989864

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA009178

rs_567102013

12 SubmittersRCV000165734 RCV000217127 RCV000411319 RCV000656945 RCV001083209 RCV003907523

NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)

SNV
Germline

Chr7:5992017

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Mismatch repair cancer syndrome 4
Lynch syndrome 4
PMS2-related disorder
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA013345

rs_116314131

20 SubmittersRCV000163216 RCV000197131 RCV000412322 RCV000524485 RCV000679365 RCV000780629 RCV002492646 RCV003389705 RCV003492673

NM_000535.7(PMS2):c.924G>C (p.Glu308Asp)

SNV
Germline

Chr7:5992037

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
not specified
Breast and/or ovarian cancer
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013290

rs_114185660

14 SubmittersRCV000165430 RCV000481332 RCV000471981 RCV001356004 RCV001193854 RCV001798589 RCV003462172 RCV003995415

NM_000535.7(PMS2):c.917T>C (p.Val306Ala)

SNV
Germline

Chr7:5992044

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013256

rs_786201878

12 SubmittersRCV000164381 RCV000213750 RCV000470824 RCV000588443 RCV000662825 RCV000708990

NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)

SNV
Germline

Chr7:5995628

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary nonpolyposis colon cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA012910

rs_786201047

11 SubmittersRCV000162437 RCV000629674 RCV000657645 RCV001192582 RCV001262168 RCV005365055

NM_000535.7(PMS2):c.784G>A (p.Ala262Thr)

SNV
Germline

Chr7:5997345

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast neoplasm
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012842

rs_779625900

7 SubmittersRCV000167024 RCV000481531 RCV000707037 RCV001262425 RCV003995548

NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)

SNV
Germline

Chr7:5997364

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
PMS2-related disorder
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA012753

rs_573125799

17 SubmittersRCV000162412 RCV000168447 RCV000413496 RCV000627717 RCV003147375 RCV003407601 RCV005042322

NM_000535.7(PMS2):c.735G>T (p.Leu245=)

SNV
Germline

Chr7:5997394

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012689

rs_373366661

9 SubmittersRCV000166111 RCV000828397 RCV001087207 RCV003235086 RCV003995480 RCV005420685

NM_000535.7(PMS2):c.687T>C (p.Ser229=)

SNV
Germline

Chr7:5999126

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012533

rs_786201508

8 SubmittersRCV000163775 RCV000659069 RCV001084511 RCV003995281 RCV005425762

NM_000535.7(PMS2):c.608C>G (p.Thr203Ser)

SNV
Germline

Chr7:5999205

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome 4
Lynch syndrome
Mismatch repair cancer syndrome 4
PMS2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012411

rs_779946576

12 SubmittersRCV000166541 RCV000463624 RCV000509403 RCV002267919 RCV003462217 RCV003483547 RCV003954985 RCV003995510

NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)

SNV
Germline/somatic

Chr7:5999218

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided
not specified
Lynch syndrome
PMS2-related disorder
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012356

rs_372297364

18 SubmittersRCV000167249 RCV000233931 RCV000410857 RCV000512735 RCV000722125 RCV000758686 RCV003927555 RCV005396495

NM_000535.7(PMS2):c.354C>T (p.Ser118=)

SNV
Germline

Chr7:6002636

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Lynch syndrome
not specified
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011977

rs_760615315

11 SubmittersRCV000165593 RCV000587468 RCV000630377 RCV003150025 RCV003995437 RCV003479038 RCV005420664

NM_000535.7(PMS2):c.354-1G>A

SNV
Germline

Chr7:6002637

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA011931

rs_786203954

6 SubmittersRCV000167479 RCV001850369 RCV003328562 RCV003333740

NM_000535.7(PMS2):c.354-2A>G

SNV
Germline

Chr7:6002638

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA011940

rs_786202098

10 SubmittersRCV000164744 RCV000552914 RCV000759205 RCV003454400 RCV003995362

NM_000535.7(PMS2):c.299A>C (p.Gln100Pro)

SNV
Germline

Chr7:6003744

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011782

rs_747771951

6 SubmittersRCV000165733 RCV000470281 RCV003995446 RCV004589775 RCV005600784

NM_000535.7(PMS2):c.251-2A>T

SNV
Germline

Chr7:6003794

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Hereditary nonpolyposis colon cancer
Breast and/or ovarian cancer
PMS2-related disorder
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Multiple Submitters
No Conflicts

CA011631

rs_587779340

19 SubmittersRCV000162757 RCV000205731 RCV000216802 RCV000524468 RCV000515494 RCV000763591 RCV001255210 RCV003149993 RCV004742289 RCV005252784

NM_000535.7(PMS2):c.197T>C (p.Ile66Thr)

SNV
Germline

Chr7:6004025

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010578

rs_769554577

13 SubmittersRCV000165451 RCV000197855 RCV000662452 RCV000759917 RCV003150022 RCV003995419

NM_000535.7(PMS2):c.164-1G>C

SNV
Germline

Chr7:6004059

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA009964

rs_763308607

11 SubmittersRCV000165585 RCV000484767 RCV000576564 RCV000792721 RCV003995434

NM_000535.7(PMS2):c.113C>T (p.Ala38Val)

SNV
Germline

Chr7:6005942

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Breast and/or ovarian cancer
Lynch syndrome
PMS2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA009226

rs_148270248

14 SubmittersRCV000167349 RCV000229343 RCV000759911 RCV000987853 RCV002478518 RCV003150031 RCV003995585 RCV004724963 RCV005437972

NM_000535.7(PMS2):c.101G>T (p.Ser34Ile)

SNV
Germline

Chr7:6005954

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009103

rs_370612538

11 SubmittersRCV000166613 RCV000231923 RCV000485924 RCV000780635 RCV003468789 RCV003995518

NM_000535.7(PMS2):c.89A>G (p.Gln30Arg)

SNV
Germline

Chr7:6005966

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013191

rs_56203955

10 SubmittersRCV000164904 RCV000198290 RCV000410641 RCV000482199 RCV002247569 RCV003995377

NM_000535.7(PMS2):c.-4A>G

SNV
Germline

Chr7:6009023

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012197

rs_544503598

7 SubmittersRCV000166563 RCV000406414 RCV001704221 RCV003995513

NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)

SNV
Germline

Chr2:47403258

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA021742

rs_372619120

14 SubmittersRCV000213945 RCV000417652 RCV000759120 RCV001083940 RCV000986642 RCV001358277 RCV003491920

NM_000251.3(MSH2):c.174C>A (p.Phe58Leu)

SNV
Germline

Chr2:47403365

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019166

rs_372189599

9 SubmittersRCV000168388 RCV000568410 RCV003468832 RCV003995625 RCV004767115

NM_000251.3(MSH2):c.491G>A (p.Gly164Glu)

SNV
Germline

Chr2:47410218

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA021218

rs_786204082

4 SubmittersRCV000167977 RCV000223301 RCV000240465 RCV003454423

NM_000251.3(MSH2):c.956A>T (p.Asp319Val)

SNV
Germline

Chr2:47416309

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022616

rs_786204185

6 SubmittersRCV000168245 RCV001019487 RCV003995617 RCV006259145

NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala)

SNV
Germline

Chr2:47416423

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017027

rs_150503781

11 SubmittersRCV000168008 RCV000236761 RCV000568153 RCV000662371 RCV001553594 RCV003995602

NM_000251.3(MSH2):c.1442T>A (p.Leu481Ter)

SNV
Germline

Chr2:47463086

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA018278

rs_786203036

2 SubmittersRCV001386660 RCV003454424

NM_000251.3(MSH2):c.1670C>G (p.Thr557Ser)

SNV
Germline

Chr2:47470973

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018965

rs_139920308

4 SubmittersRCV000168437 RCV001012659 RCV001034658 RCV004806153

NM_000251.3(MSH2):c.2354A>G (p.His785Arg)

SNV
Germline

Chr2:47478415

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer
not specified
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020496

rs_200252727

12 SubmittersRCV000168313 RCV000213407 RCV000589584 RCV000735967 RCV001580463 RCV003462262 RCV003995623 RCV004734764

NM_000251.3(MSH2):c.2393A>G (p.Asn798Ser)

SNV
Germline

Chr2:47478454

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020537

rs_786204073

6 SubmittersRCV000167962 RCV000773069 RCV000986688 RCV001762391 RCV004806152

NM_000179.3(MSH6):c.533G>A (p.Arg178His)

SNV
Germline

Chr2:47795969

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
not specified
Condition: not provided
Malignant tumor of breast
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015812

rs_786204186

12 SubmittersRCV000168249 RCV000220140 RCV000411795 RCV000781571 RCV000759151 RCV001355537 RCV003468827 RCV003995618

NM_000179.3(MSH6):c.956C>T (p.Thr319Met)

SNV
Germline

Chr2:47798939

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016673

rs_188252826

9 SubmittersRCV000168389 RCV000220509 RCV000656996 RCV003316071 RCV003995626

NM_000179.3(MSH6):c.1498G>A (p.Ala500Thr)

SNV
Germline

Chr2:47799481

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA008716

rs_786204127

8 SubmittersRCV000168089 RCV000578381 RCV000657123 RCV001011904

NM_000179.3(MSH6):c.2203C>A (p.Leu735Ile)

SNV
Germline

Chr2:47800186

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA009870

rs_786204071

9 SubmittersRCV000167959 RCV000409734 RCV000491880 RCV000759851 RCV003468820 RCV003995600 RCV006456766

NM_000179.3(MSH6):c.3711G>C (p.Glu1237Asp)

SNV
Germline

Chr2:47806268

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013945

rs_754289472

3 SubmittersRCV001020953 RCV001373676 RCV003995614

NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp)

SNV
Germline

Chr2:47806782

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015307

rs_786204130

12 SubmittersRCV000168100 RCV000213342 RCV000663216 RCV001800508 RCV003462256 RCV003987391 RCV003995607

NM_000249.4(MLH1):c.319A>G (p.Ile107Val)

SNV
Germline

Chr3:37004413

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA009774

rs_572906317

8 SubmittersRCV000167889 RCV000583427 RCV000586116 RCV001357822 RCV005031688

NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn)

SNV
Germline

Chr3:37025957

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified

Criteria Provided
Conflicting Classifications

CA005076

rs_756099600

12 SubmittersRCV000167968 RCV000214998 RCV000590046 RCV003995601 RCV004567360 RCV005361046 RCV006273612

NM_000249.4(MLH1):c.1591G>A (p.Val531Met)

SNV
Germline

Chr3:37040218

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA006013

rs_764663152

8 SubmittersRCV000168065 RCV000573554 RCV000662490 RCV001284165 RCV003995604

NM_000535.7(PMS2):c.1901A>G (p.His634Arg)

SNV
Germline

Chr7:5986864

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010440

rs_767904893

8 SubmittersRCV000168211 RCV000220002 RCV003318558 RCV003995612

NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu)

SNV
Germline

Chr7:5986937

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA010309

rs_199700509

11 SubmittersRCV000168273 RCV000486825 RCV000574365 RCV003468829 RCV003995619 RCV004668829

NM_000535.7(PMS2):c.1819G>A (p.Val607Ile)

SNV
Germline

Chr7:5986946

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA010297

rs_786204109

7 SubmittersRCV000168042 RCV000482215 RCV000562276 RCV003995603 RCV004786481

NM_000535.7(PMS2):c.433C>A (p.Gln145Lys)

SNV
Germline

Chr7:6002557

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012095

rs_786204133

8 SubmittersRCV000168105 RCV000222089 RCV000585952 RCV003995608

NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)

SNV
Germline

Chr2:47475249

Pathogenic

Carcinoma of colon
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA019647

rs_786204321

6 SubmittersRCV000168729 RCV000480108 RCV001239760 RCV001192611 RCV002415717 RCV003454427

NM_000249.4(MLH1):c.791-1G>A

SNV
Germline

Chr3:37017505

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA012269

rs_267607795

5 SubmittersRCV000168716 RCV000692531 RCV002415716 RCV003454426

NM_000249.4(MLH1):c.37G>A (p.Glu13Lys)

SNV
Germline

Chr3:36993584

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Malignant tumor of breast
Condition: not provided
not specified
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010013

rs_587779008

12 SubmittersRCV000172808 RCV000220749 RCV000629831 RCV000662433 RCV001355919 RCV002472961 RCV003150964 RCV003150044 RCV003995677

NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)

SNV
Germline/somatic

Chr7:5978689

Conflicting classifications of pathogenicity

Lynch syndrome 1
not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA011001

rs_141893001

13 SubmittersRCV000172820 RCV000239355 RCV000555261 RCV000567860 RCV000758628 RCV001357402 RCV001798624 RCV004706609

NM_000535.7(PMS2):c.2002A>G (p.Ile668Val)

SNV
Germline

Chr7:5986763

Pathogenic/Likely pathogenic

Mismatch repair cancer syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA358701

rs_869320619

9 SubmittersRCV000172908 RCV000630142 RCV001179765 RCV001284205 RCV001804905 RCV003454446 RCV005396516

NM_000535.7(PMS2):c.2127C>T (p.Phe709=)

SNV
Germline

Chr7:5982871

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA010873

rs_199943748

14 SubmittersRCV000213544 RCV000588071 RCV000855625 RCV001085912 RCV003150046 RCV005361067

NM_000179.3(MSH6):c.742C>G (p.Arg248Gly)

SNV
Germline

Chr2:47798725

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA016385

rs_63749980

8 SubmittersRCV000178052 RCV000215538 RCV000226497 RCV004567381 RCV003996572 RCV005425787

NM_000251.3(MSH2):c.2459G>A (p.Gly820Asp)

SNV
Germline

Chr2:47480696

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020624

rs_794729229

6 SubmittersRCV000184050 RCV000466235 RCV000561295 RCV000708845

NM_002354.3(EPCAM):c.304A>G (p.Ser102Gly)

SNV
Germline

Chr2:47373927

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338473

rs_34474955

4 SubmittersRCV002444801 RCV003316106 RCV003539813

NM_000251.3(MSH2):c.199A>G (p.Met67Val)

SNV
Germline

Chr2:47403390

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA032335

rs_768824654

6 SubmittersRCV000195508 RCV000581797 RCV001770148 RCV003114359 RCV003997016

NM_000251.3(MSH2):c.470G>C (p.Gly157Ala)

SNV
Germline

Chr2:47410197

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038898

rs_765489269

9 SubmittersRCV000197496 RCV000579889 RCV000780448 RCV000662894 RCV001569704 RCV001798671 RCV003997024

NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)

SNV
Germline

Chr2:47429919

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Condition: not provided
Lynch syndrome 1
not specified
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA027308

rs_751431238

10 SubmittersRCV000200127 RCV000564423 RCV000765666 RCV001589078 RCV003316110 RCV003155118 RCV003997012 RCV004528987

NM_000251.3(MSH2):c.1331G>T (p.Arg444Leu)

SNV
Germline

Chr2:47445602

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027957

rs_557339938

8 SubmittersRCV000196756 RCV000214843 RCV000409612 RCV000586261 RCV003997013

NM_000251.3(MSH2):c.1547G>A (p.Ser516Asn)

SNV
Germline

Chr2:47466694

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA338107

rs_373564353

5 SubmittersRCV000774569 RCV000986673 RCV001201365 RCV004806190

NM_000251.3(MSH2):c.1813G>T (p.Val605Phe)

SNV
Germline

Chr2:47475078

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA031537

rs_730881777

11 SubmittersRCV000235488 RCV000199035 RCV000412070 RCV000566201 RCV003997014 RCV003323451 RCV005361147

NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)

SNV
Germline

Chr2:47476409

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA339026

rs_755920849

17 SubmittersRCV000199994 RCV000410314 RCV000485278 RCV000490871 RCV000767061 RCV003997017 RCV005031745

NM_000251.3(MSH2):c.2072T>C (p.Ile691Thr)

SNV
Germline

Chr2:47476433

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA033486

rs_754824872

7 SubmittersRCV000195748 RCV000579733 RCV002307442 RCV003997018 RCV005031746

NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr)

SNV
Germline

Chr2:47476558

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Malignant tumor of breast
Ovarian cancer
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA034588

rs_772662439

16 SubmittersRCV000236347 RCV000491392 RCV000524380 RCV000656998 RCV000662875 RCV001358322 RCV003153472 RCV004530190

NM_000251.3(MSH2):c.2211-6C>A

SNV
Germline

Chr2:47478266

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Breast and/or ovarian cancer
Lung cancer

Criteria Provided
Conflicting Classifications

CA035050

rs_267608003

14 SubmittersRCV000236903 RCV000410446 RCV000590535 RCV000771124 RCV001080259 RCV003997015 RCV003491944 RCV005893593

NM_000251.3(MSH2):c.2211-5T>G

SNV
Germline

Chr2:47478267

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA035039

rs_368596736

10 SubmittersRCV000409905 RCV000568854 RCV000588531 RCV001086513 RCV001844084 RCV004541280

NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala)

SNV
Germline

Chr2:47478321

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035098

rs_757268664

10 SubmittersRCV000196465 RCV000560982 RCV000589091 RCV001140258 RCV002500622 RCV003997019

NM_000251.3(MSH2):c.2293G>A (p.Ala765Thr)

SNV
Germline

Chr2:47478354

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA338683

rs_63750368

7 SubmittersRCV000199509 RCV000215183 RCV000411596 RCV004689671 RCV004806191

NM_000251.3(MSH2):c.2379G>T (p.Gln793His)

SNV
Germline

Chr2:47478440

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 1
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA035514

rs_767520406

9 SubmittersRCV000198539 RCV000569330 RCV002273983 RCV002288815 RCV003462325 RCV003997020 RCV003493487

NM_000251.3(MSH2):c.2387C>T (p.Thr796Ile)

SNV
Germline

Chr2:47478448

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA339316

rs_863224641

5 SubmittersRCV000200437 RCV000216489 RCV001577165 RCV003997021

NM_000251.3(MSH2):c.2726A>G (p.Lys909Arg)

SNV
Germline

Chr2:47482870

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA037327

rs_34319539

6 SubmittersRCV000197107 RCV000491688 RCV001550881 RCV001798670 RCV003997022 RCV004567432

NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile)

SNV
Germline

Chr2:47482870

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA037340

rs_34319539

10 SubmittersRCV000198941 RCV000223226 RCV000235290 RCV000412048 RCV003997023 RCV005237706

NM_000179.3(MSH6):c.41C>T (p.Ser14Phe)

SNV
Germline

Chr2:47783274

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Breast and/or ovarian cancer
Endometrial carcinoma
Lynch syndrome
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA336718

rs_863224628

11 SubmittersRCV000196789 RCV000575547 RCV000662898 RCV001564528 RCV003150088 RCV003462323 RCV003997002 RCV005396613

NM_000179.3(MSH6):c.94G>T (p.Gly32Cys)

SNV
Germline

Chr2:47783327

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
not specified
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA073625

rs_776859837

11 SubmittersRCV000198127 RCV000480324 RCV000564851 RCV000663156 RCV003317146 RCV003997005 RCV004530189

NM_000179.3(MSH6):c.131C>T (p.Pro44Leu)

SNV
Germline

Chr2:47783364

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338295

rs_863224615

6 SubmittersRCV000198916 RCV000570887 RCV003996992 RCV005396611 RCV004760427

NM_000179.3(MSH6):c.136G>C (p.Gly46Arg)

SNV
Germline

Chr2:47783369

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
Endometrial carcinoma
Lynch syndrome
Mismatch repair cancer syndrome 3
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA337552

rs_863224616

9 SubmittersRCV000197947 RCV000575386 RCV000765677 RCV004567424 RCV003996993 RCV005361145 RCV005025324 RCV005632310

NM_000179.3(MSH6):c.208A>G (p.Lys70Glu)

SNV
Germline

Chr2:47783441

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA338570

rs_863224621

11 SubmittersRCV000199329 RCV000445836 RCV001589077 RCV004567426 RCV003996997 RCV005396612 RCV005868090

NM_000179.3(MSH6):c.521G>A (p.Arg174Lys)

SNV
Germline

Chr2:47795957

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Conflicting Classifications

CA339365

rs_863224629

6 SubmittersRCV000409062 RCV000491997 RCV001337371 RCV004998406

NM_000179.3(MSH6):c.643G>A (p.Val215Ile)

SNV
Germline

Chr2:47798626

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Lynch syndrome
Condition: not provided
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA073285

rs_145959653

14 SubmittersRCV000197162 RCV000220344 RCV000582427 RCV000663025 RCV000761118 RCV001699153 RCV003468905

NM_000179.3(MSH6):c.899G>A (p.Arg300Gln)

SNV
Germline

Chr2:47798882

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Endometrial carcinoma
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA073560

rs_55760494

13 SubmittersRCV000199066 RCV000214218 RCV000586061 RCV002267932 RCV003462324 RCV003491942 RCV005031743 RCV003997003 RCV006633904

NM_000179.3(MSH6):c.905G>A (p.Arg302Lys)

SNV
Germline

Chr2:47798888

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA073568

rs_587781510

7 SubmittersRCV000195580 RCV000219538 RCV000521245 RCV000845040 RCV003997004 RCV004782309

NM_000179.3(MSH6):c.1045C>T (p.Gln349Ter)

SNV
Germline

Chr2:47799028

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA336780

rs_863224473

6 SubmittersRCV000196898 RCV001781579 RCV002399745 RCV003454497

NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu)

SNV
Germline

Chr2:47799279

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA337394

rs_863224614

5 SubmittersRCV000485339 RCV001312494 RCV002381687 RCV003454502 RCV005361144

NM_000179.3(MSH6):c.1450G>A (p.Glu484Lys)

SNV
Germline

Chr2:47799433

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA338881

rs_587782706

4 SubmittersRCV001011654 RCV001340457 RCV003996994 RCV004782308

NM_000179.3(MSH6):c.1740G>T (p.Ser580=)

SNV
Germline

Chr2:47799723

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Thyroid cancer, nonmedullary, 1
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA068098

rs_762089407

7 SubmittersRCV000198145 RCV000579551 RCV003996995 RCV005893591 RCV005425800

NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu)

SNV
Germline

Chr2:47799877

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
not specified
Malignant tumor of breast
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068250

rs_755847154

10 SubmittersRCV000198361 RCV000213164 RCV000411644 RCV000781573 RCV001357273 RCV001580468 RCV003996996

NM_000179.3(MSH6):c.2318T>C (p.Leu773Pro)

SNV
Germline

Chr2:47800301

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA337352

rs_863224623

4 SubmittersRCV001313045 RCV001190573 RCV003454503

NM_000179.3(MSH6):c.3101G>A (p.Arg1034Gln)

SNV
Germline

Chr2:47801084

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Breast and/or ovarian cancer
Endometrial carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA070049

rs_181727939

10 SubmittersRCV000199786 RCV000215044 RCV001194335 RCV003996999 RCV003491941 RCV004567427 RCV004725055

NM_000179.3(MSH6):c.3104G>A (p.Arg1035Gln)

SNV
Germline

Chr2:47801087

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA070064

rs_730881801

11 SubmittersRCV000196222 RCV000568269 RCV000759859 RCV002272172 RCV003320595 RCV003997000 RCV004567428

NM_000179.3(MSH6):c.3142C>G (p.Gln1048Glu)

SNV
Germline

Chr2:47801125

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070092

rs_200492211

4 SubmittersRCV000573297 RCV001339225 RCV004567429 RCV004806189

NM_000179.3(MSH6):c.3348C>G (p.Gly1116=)

SNV
Germline

Chr2:47803595

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA335828

rs_771833309

5 SubmittersRCV000195667 RCV001187923 RCV003150087 RCV005420746

NM_000179.3(MSH6):c.3705T>C (p.Leu1235=)

SNV
Germline

Chr2:47806262

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA339009

rs_545552712

10 SubmittersRCV000199972 RCV000524184 RCV000561429 RCV001284019 RCV001824679 RCV003996955 RCV004739582

NM_000179.3(MSH6):c.4062G>C (p.Leu1354=)

SNV
Germline

Chr2:47806839

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338095

rs_863224335

7 SubmittersRCV000198669 RCV000561257 RCV000614588 RCV003996958 RCV005425794 RCV006259162

NM_000179.3(MSH6):c.4064C>G (p.Thr1355Ser)

SNV
Germline

Chr2:47806841

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary cancer
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA339279

rs_863224627

8 SubmittersRCV000200387 RCV000482736 RCV001021786 RCV003997001 RCV004701257 RCV004567430

NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)

SNV
Germline

Chr3:36993627

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA038485

rs_138705565

11 SubmittersRCV000197307 RCV000573727 RCV000662868 RCV000587717 RCV003997011 RCV005893592

NM_000249.4(MLH1):c.762G>A (p.Lys254=)

SNV
Germline

Chr3:37014516

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA339243

rs_863224341

8 SubmittersRCV000200322 RCV000587140 RCV001026642 RCV001636721 RCV003996959 RCV005246762

NM_000249.4(MLH1):c.1564C>T (p.Arg522Trp)

SNV
Germline

Chr3:37040191

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA029672

rs_63751703

12 SubmittersRCV000195882 RCV000216499 RCV000412186 RCV000587282 RCV003997006

NM_000249.4(MLH1):c.1850A>C (p.Lys617Thr)

SNV
Germline

Chr3:37047637

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA031040

rs_780199021

9 SubmittersRCV000196169 RCV000234867 RCV000586570 RCV003468906 RCV003997009

NM_000535.7(PMS2):c.2085C>T (p.Ile695=)

SNV
Germline

Chr7:5982913

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA046541

rs_757157176

7 SubmittersRCV000195796 RCV000576048 RCV000780622 RCV001689732 RCV005420737 RCV005361133

NM_000535.7(PMS2):c.2007-6C>G

SNV
Germline

Chr7:5982997

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 4
Breast and/or ovarian cancer
Condition: not provided
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA338369

rs_376018314

9 SubmittersRCV000199056 RCV000587224 RCV000662636 RCV003150086 RCV003477659 RCV003584561 RCV005361132

NM_000535.7(PMS2):c.1733G>A (p.Arg578His)

SNV
Germline

Chr7:5987032

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA045451

rs_63750770

11 SubmittersRCV000199546 RCV000218135 RCV001544673 RCV003491945 RCV003320596 RCV003462329

NM_000535.7(PMS2):c.1642G>A (p.Asp548Asn)

SNV
Germline

Chr7:5987123

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA044914

rs_374591423

6 SubmittersRCV000195742 RCV000775362 RCV001546990 RCV004806192

NM_000535.7(PMS2):c.1632C>T (p.Asp544=)

SNV
Germline

Chr7:5987133

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA339583

rs_786203439

3 SubmittersRCV001439425 RCV003165462 RCV005420736

NM_000535.7(PMS2):c.1555T>C (p.Tyr519His)

SNV
Germline

Chr7:5987210

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA044339

rs_370236216

8 SubmittersRCV000199090 RCV000221963 RCV000486619 RCV000780620 RCV000987826 RCV005042426

NM_000535.7(PMS2):c.1435C>G (p.His479Asp)

SNV
Germline

Chr7:5987330

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA043547

rs_376344586

8 SubmittersRCV000197213 RCV000216807 RCV000487350 RCV001160657 RCV001192581 RCV003997027

NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter)

SNV
Germline

Chr7:5987468

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA337884

rs_863224496

8 SubmittersRCV000708622 RCV001268094 RCV001389426 RCV003454500 RCV004806187

NM_000535.7(PMS2):c.935T>C (p.Met312Thr)

SNV
Germline

Chr7:5992026

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
not specified
Lynch syndrome
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA052531

rs_530021751

9 SubmittersRCV000563510 RCV000588576 RCV001081365 RCV001357920 RCV003479057 RCV003996962 RCV005365124

NM_000535.7(PMS2):c.537+1G>A

SNV
Germline

Chr7:6002452

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4
PMS2-related disorder
Condition: not provided
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA339064

rs_863224450

7 SubmittersRCV001377722 RCV002345713 RCV003454495 RCV002485315 RCV004725052 RCV004786533 RCV005418014

NM_000535.7(PMS2):c.412G>C (p.Asp138His)

SNV
Germline

Chr7:6002578

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA336630

rs_863224678

9 SubmittersRCV000196680 RCV000215200 RCV000662394 RCV000759921 RCV004767144

NM_000535.7(PMS2):c.58C>T (p.Arg20Trp)

SNV
Germline

Chr7:6005997

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
not specified
Condition: not provided
PMS2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA050487

rs_573374779

11 SubmittersRCV000198784 RCV000218260 RCV000410798 RCV000781747 RCV001562874 RCV003401082 RCV003997030

NM_000251.3(MSH2):c.793-1G>A

SNV
Germline

Chr2:47414268

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Inherited MMR deficiency (Lynch syndrome)
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279694

rs_863225397

8 SubmittersRCV000202050 RCV000491505 RCV000703166 RCV001257468 RCV005863043 RCV005365134

NM_000251.3(MSH2):c.1177A>T (p.Lys393Ter)

SNV
Germline

Chr2:47429842

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA279759

rs_863225386

4 SubmittersRCV000202154 RCV002327056 RCV003454513 RCV003758724

NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter)

SNV
Germline

Chr2:47429902

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA279693

rs_863225387

6 SubmittersRCV000202046 RCV000490844 RCV003454514 RCV003593936

NM_000251.3(MSH2):c.1276+2T>C

SNV
Germline

Chr2:47429943

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Familial cancer of breast
Uterine corpus endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA027509

rs_267607953

12 SubmittersRCV000202216 RCV000460835 RCV000492023 RCV000576479 RCV005361164 RCV005893616

NM_000251.3(MSH2):c.1481C>G (p.Ser494Ter)

SNV
Germline

Chr2:47463125

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA248506

rs_370970617

4 SubmittersRCV000202035 RCV000694104 RCV003454517 RCV005672340

NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)

SNV
Germline

Chr2:47475127

Pathogenic/Likely pathogenic

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA210371

rs_759263820

8 SubmittersRCV000201977 RCV000205853 RCV000491320 RCV000656880 RCV003226247 RCV003462356

NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter)

SNV
Germline

Chr2:47478361

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279719

rs_863225395

4 SubmittersRCV000202080 RCV000491337 RCV000800051 RCV003454522

NM_000251.3(MSH2):c.2494G>T (p.Glu832Ter)

SNV
Germline

Chr2:47480731

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279661

rs_863225396

3 SubmittersRCV000201967 RCV002426955 RCV003454523

NM_000179.3(MSH6):c.261-1G>C

SNV
Germline

Chr2:47790926

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA279746

rs_863225402

7 SubmittersRCV000202130 RCV000203910 RCV000222011 RCV003114364 RCV003454527

NM_000179.3(MSH6):c.1883G>A (p.Trp628Ter)

SNV
Germline

Chr2:47799866

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA279790

rs_863225401

6 SubmittersRCV000202222 RCV000664275 RCV001354409 RCV003454526

NM_000179.3(MSH6):c.3172G>C (p.Asp1058His)

SNV
Germline

Chr2:47801155

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Carcinoma of colon
Lynch syndrome 5

Reviewed By Expert Panel

CA279731

rs_863225404

6 SubmittersRCV000491378 RCV001039124 RCV000202089 RCV000501351 RCV001353871 RCV005600811

NM_000249.4(MLH1):c.116+5G>A

SNV
Germline

Chr3:36993668

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027435

rs_267607710

12 SubmittersRCV000202146 RCV000561710 RCV000663218 RCV000630192 RCV000766594 RCV003997045

NM_000249.4(MLH1):c.583A>T (p.Lys195Ter)

SNV
Germline

Chr3:37011857

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA279752

rs_863225383

7 SubmittersRCV000202144 RCV000216838 RCV002517340 RCV004017484 RCV003454512

NM_000179.3(MSH6):c.3100C>T (p.Arg1034Trp)

SNV
Germline

Chr2:47801083

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA070044

rs_587779930

11 SubmittersRCV000203004 RCV000219542 RCV000410374 RCV000524152 RCV000774606

NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro)

SNV
Germline

Chr2:47805693

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5
Condition: not provided

Reviewed By Expert Panel

CA350757

rs_864622041

9 SubmittersRCV000206750 RCV000215362 RCV000471873 RCV003462359 RCV003454537 RCV003477675

NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro)

SNV
Germline

Chr3:37042276

Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA348372

rs_63750059

5 SubmittersRCV000204126 RCV000522242 RCV001853279 RCV002399757 RCV003454536

NM_000249.4(MLH1):c.2263A>G (p.Arg755Gly)

SNV
Germline

Chr3:37050645

Pathogenic

Lynch syndrome 1

Reviewed By Expert Panel

CA350722

rs_267607900

1 SubmittersRCV000206724

NM_000251.3(MSH2):c.507A>G (p.Ile169Met)

SNV
Germline

Chr2:47410234

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039056

rs_748762580

10 SubmittersRCV000203760 RCV000662969 RCV000771214 RCV001569238 RCV003997617

NM_000251.3(MSH2):c.508C>G (p.Gln170Glu)

SNV
Germline

Chr2:47410235

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039073

rs_63750843

12 SubmittersRCV000204442 RCV000214137 RCV000759837 RCV002485345 RCV003315420 RCV003320603 RCV003997618

NM_000251.3(MSH2):c.576C>T (p.Ile192=)

SNV
Germline

Chr2:47410303

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA348791

rs_864622381

9 SubmittersRCV000204572 RCV000568612 RCV000615464 RCV003997612 RCV004998429 RCV005246793

NM_000251.3(MSH2):c.589A>G (p.Lys197Glu)

SNV
Germline

Chr2:47410316

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA348678

rs_778573140

6 SubmittersRCV000204459 RCV000480096 RCV000772140 RCV003997653

NM_000251.3(MSH2):c.641G>T (p.Arg214Ile)

SNV
Germline

Chr2:47410368

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA039588

rs_763298811

8 SubmittersRCV000204214 RCV000565649 RCV001556775 RCV003315421 RCV003997641 RCV005361190

NM_000251.3(MSH2):c.646-3T>C

SNV
Germline

Chr2:47412411

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Breast and/or ovarian cancer
MSH2-related disorder
not specified
Familial cancer of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039878

rs_267607930

13 SubmittersRCV000203689 RCV000565426 RCV000662873 RCV001722122 RCV001798681 RCV004530227 RCV003235128 RCV005361183 RCV003997616

NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)

SNV
Germline

Chr2:47412516

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA348603

rs_864622183

5 SubmittersRCV000204356 RCV000490946 RCV001527063 RCV003454540

NM_000251.3(MSH2):c.812C>G (p.Ser271Cys)

SNV
Germline

Chr2:47414288

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA349912

rs_139891783

9 SubmittersRCV000205795 RCV000481152 RCV000657148 RCV001180058 RCV003997604 RCV005396638

NM_000251.3(MSH2):c.842C>G (p.Ser281Ter)

SNV
Germline

Chr2:47414318

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349474

rs_63749991

5 SubmittersRCV000205315 RCV000491522 RCV003454542 RCV003155123 RCV006259191

NM_000251.3(MSH2):c.934C>G (p.Leu312Val)

SNV
Germline

Chr2:47414410

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA041178

rs_756398636

6 SubmittersRCV000205023 RCV000565881 RCV000662459 RCV003997573

NM_000251.3(MSH2):c.1013G>C (p.Gly338Ala)

SNV
Germline

Chr2:47416366

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA349698

rs_587779065

4 SubmittersRCV000663023 RCV001320681

NM_000251.3(MSH2):c.1124C>T (p.Thr375Ile)

SNV
Germline

Chr2:47429789

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA027026

rs_774539871

9 SubmittersRCV000206649 RCV000216074 RCV001582711 RCV003462383 RCV003997643 RCV005230082

NM_000251.3(MSH2):c.1172C>T (p.Ala391Val)

SNV
Germline

Chr2:47429837

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA349270

rs_864622674

5 SubmittersRCV000220404 RCV001367259 RCV004567484 RCV003997657

NM_000251.3(MSH2):c.1276+7A>G

SNV
Germline

Chr2:47429948

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA027597

rs_748554540

9 SubmittersRCV000204444 RCV000600314 RCV000776439 RCV003454539

NM_000251.3(MSH2):c.1511-41G>C

SNV
Germline

Chr2:47466617

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA029317

rs_202215396

10 SubmittersRCV000455376 RCV000663053 RCV001520677 RCV001812214 RCV002257512 RCV004529007

NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter)

SNV
Germline

Chr2:47466710

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA349667

rs_63750330

4 SubmittersRCV000205506 RCV000574279 RCV003454548

NM_000251.3(MSH2):c.1622C>T (p.Thr541Ile)

SNV
Germline

Chr2:47466769

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Breast and/or ovarian cancer
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA348608

rs_864622079

9 SubmittersRCV000204365 RCV000478447 RCV000570070 RCV001193995 RCV003462360 RCV003150090 RCV003997558 RCV004530216

NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg)

SNV
Germline

Chr2:47475067

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA031443

rs_779447213

8 SubmittersRCV000205243 RCV000567614 RCV000765669 RCV002469065 RCV003477681 RCV004806198

NM_000251.3(MSH2):c.1804C>G (p.Leu602Val)

SNV
Germline

Chr2:47475069

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA031475

rs_748797209

10 SubmittersRCV000205416 RCV000221565 RCV000235312 RCV000663070 RCV001356036 RCV003997576

NM_000251.3(MSH2):c.1817T>C (p.Val606Ala)

SNV
Germline

Chr2:47475082

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA348303

rs_376044376

4 SubmittersRCV000204031 RCV000663175 RCV001013294

NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr)

SNV
Germline

Chr2:47475163

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA350189

rs_864622093

9 SubmittersRCV000206123 RCV000519579 RCV000562458 RCV001201177 RCV003997560 RCV004567449 RCV005396632

NM_000251.3(MSH2):c.2150G>A (p.Ser717Asn)

SNV
Germline

Chr2:47476511

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA034373

rs_752883472

6 SubmittersRCV000206475 RCV001181937 RCV003230453 RCV003468962 RCV005429232

NM_000251.3(MSH2):c.2309T>C (p.Ile770Thr)

SNV
Germline

Chr2:47478370

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035315

rs_371718349

7 SubmittersRCV000206397 RCV000219799 RCV000759827 RCV004567467 RCV004806203

NM_000251.3(MSH2):c.2417C>T (p.Thr806Ile)

SNV
Germline

Chr2:47478478

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035718

rs_758889557

8 SubmittersRCV000205485 RCV000480146 RCV000568311 RCV000708843

NM_000251.3(MSH2):c.2525A>T (p.Glu842Val)

SNV
Germline

Chr2:47480762

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA349143

rs_373393954

11 SubmittersRCV000204953 RCV000565136 RCV000662576 RCV001558974 RCV003997640 RCV005396648 RCV005893709

NM_000251.3(MSH2):c.2542G>T (p.Ala848Ser)

SNV
Germline

Chr2:47480779

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA036472

rs_746972142

8 SubmittersRCV000204877 RCV000491044 RCV001570632 RCV003997603 RCV004734856

NM_000179.3(MSH6):c.136G>A (p.Gly46Arg)

SNV
Germline

Chr2:47783369

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Mismatch repair cancer syndrome 1
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA348361

rs_863224616

9 SubmittersRCV000204112 RCV000484712 RCV000561391 RCV000663157 RCV000765676 RCV003997571

NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)

SNV
Germline

Chr2:47783420

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
Endometrial carcinoma
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA068241

rs_763702846

12 SubmittersRCV000206061 RCV000217423 RCV000491346 RCV000663184 RCV000656886 RCV000765679 RCV003462390 RCV004530239

NM_000179.3(MSH6):c.240A>G (p.Val80=)

SNV
Germline

Chr2:47783473

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA348418

rs_864622281

12 SubmittersRCV000410492 RCV000565482 RCV000588097 RCV000855621 RCV001080007 RCV001354250

NM_000179.3(MSH6):c.267C>G (p.Asp89Glu)

SNV
Germline

Chr2:47790933

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069427

rs_762818044

9 SubmittersRCV000204000 RCV000491184 RCV000587576 RCV000662780 RCV003997628

NM_000179.3(MSH6):c.334A>G (p.Asn112Asp)

SNV
Germline

Chr2:47791000

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Hepatoblastoma
Hereditary cancer
not specified
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA348775

rs_864622397

8 SubmittersRCV000204549 RCV000491364 RCV001753613 RCV001843493 RCV003491957 RCV003493500 RCV005025332

NM_000179.3(MSH6):c.361C>T (p.Arg121Cys)

SNV
Germline

Chr2:47791027

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071503

rs_763593669

12 SubmittersRCV000205461 RCV000483247 RCV000567183 RCV000662497 RCV001193121 RCV004567457 RCV004806200

NM_000179.3(MSH6):c.647C>T (p.Thr216Ile)

SNV
Germline

Chr2:47798630

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA073299

rs_765195534

7 SubmittersRCV000204219 RCV000216919 RCV000588780 RCV003997621 RCV005600816

NM_000179.3(MSH6):c.659A>G (p.Glu220Gly)

SNV
Germline

Chr2:47798642

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073311

rs_764478569

4 SubmittersRCV000206769 RCV000216982 RCV003997670

NM_000179.3(MSH6):c.733A>T (p.Ile245Leu)

SNV
Germline

Chr2:47798716

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA073402

rs_762168786

10 SubmittersRCV000204923 RCV000485879 RCV000657010 RCV001026289 RCV001142203

NM_000179.3(MSH6):c.1141G>A (p.Glu381Lys)

SNV
Germline

Chr2:47799124

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067195

rs_142111387

4 SubmittersRCV000206259 RCV002460058 RCV003462380 RCV004806205

NM_000179.3(MSH6):c.1162C>G (p.His388Asp)

SNV
Germline

Chr2:47799145

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA067228

rs_770386388

11 SubmittersRCV000204403 RCV000519465 RCV000574858 RCV002243887 RCV003997568 RCV003462366 RCV006456838

NM_000179.3(MSH6):c.1387G>T (p.Glu463Ter)

SNV
Germline

Chr2:47799370

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA350847

rs_864622435

4 SubmittersRCV000206852 RCV000491980 RCV003454546

NM_000179.3(MSH6):c.1529G>A (p.Arg510Lys)

SNV
Germline

Chr2:47799512

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA348991

rs_864622572

3 SubmittersRCV000204800 RCV000584293 RCV005600817

NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)

SNV
Germline

Chr2:47799674

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Breast and/or ovarian cancer
MSH6-related disorder
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA349097

rs_864622153

11 SubmittersRCV000204908 RCV000481005 RCV000491176 RCV000576302 RCV001270947 RCV004530217 RCV005629513

NM_000179.3(MSH6):c.1708A>G (p.Ile570Val)

SNV
Germline

Chr2:47799691

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
not specified

Criteria Provided
Conflicting Classifications

CA068049

rs_61748081

6 SubmittersRCV001012760 RCV001360388 RCV003997648 RCV005025333 RCV005237721

NM_000179.3(MSH6):c.2156C>T (p.Thr719Ile)

SNV
Germline

Chr2:47800139

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA068506

rs_373418713

10 SubmittersRCV000205525 RCV000214718 RCV000985830 RCV002254688 RCV003993891 RCV003997625 RCV004567469

NM_000179.3(MSH6):c.2241G>A (p.Leu747=)

SNV
Germline

Chr2:47800224

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA348015

rs_377722465

11 SubmittersRCV000203714 RCV000410196 RCV000566554 RCV001355981 RCV001797677 RCV003997626 RCV004541290

NM_000179.3(MSH6):c.2320C>G (p.Leu774Val)

SNV
Germline

Chr2:47800303

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
not specified
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA348302

rs_864622324

11 SubmittersRCV000204030 RCV000570810 RCV000662629 RCV001553643 RCV001589090 RCV004567463 RCV003997597

NM_000179.3(MSH6):c.3312T>A (p.Phe1104Leu)

SNV
Germline

Chr2:47803559

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
not specified

Criteria Provided
Conflicting Classifications

CA070636

rs_747441460

7 SubmittersRCV000205915 RCV000216977 RCV000486074 RCV000764432 RCV003155125

NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn)

SNV
Germline

Chr2:47803581

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
MSH6-related disorder
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA070677

rs_773955368

18 SubmittersRCV000206715 RCV000508319 RCV000571369 RCV000663075 RCV000985259 RCV003468963 RCV004528997 RCV005861080

NM_000179.3(MSH6):c.3354G>A (p.Glu1118=)

SNV
Germline

Chr2:47803601

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070715

rs_35642130

14 SubmittersRCV000206593 RCV000429486 RCV000491525 RCV001086511 RCV001137559 RCV003997659

NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg)

SNV
Germline

Chr2:47803678

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA350840

rs_864622607

5 SubmittersRCV000206842 RCV000220316 RCV000482863 RCV001034622

NM_000179.3(MSH6):c.3526A>T (p.Arg1176Ter)

SNV
Germline

Chr2:47804997

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA348519

rs_786203968

3 SubmittersRCV000204275 RCV000564868 RCV003454545

NM_000179.3(MSH6):c.3598A>G (p.Ile1200Val)

SNV
Germline

Chr2:47805659

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA071451

rs_781627838

10 SubmittersRCV000204738 RCV000566750 RCV000791410 RCV002243889 RCV002277568 RCV003462389

NM_000179.3(MSH6):c.3634G>A (p.Val1212Met)

SNV
Germline

Chr2:47805695

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA348626

rs_864622748

6 SubmittersRCV000204393 RCV000662541 RCV000781594 RCV001020770

NM_000179.3(MSH6):c.3802-8T>G

SNV
Germline

Chr2:47806444

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350752

rs_864622195

6 SubmittersRCV000206747 RCV000438354 RCV000662918 RCV006259184 RCV005401379

NM_000179.3(MSH6):c.3836G>A (p.Ser1279Asn)

SNV
Germline

Chr2:47806486

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
not specified
Lynch syndrome
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA349759

rs_864622400

11 SubmittersRCV000205628 RCV000481950 RCV000562735 RCV000662811 RCV002247633 RCV003997619 RCV005396640

NM_000179.3(MSH6):c.3843G>T (p.Glu1281Asp)

SNV
Germline

Chr2:47806493

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA349179

rs_864622384

7 SubmittersRCV000205009 RCV000773068 RCV000780468 RCV003314577 RCV003462376 RCV005031776

NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser)

SNV
Germline

Chr2:47806630

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA072431

rs_780187989

12 SubmittersRCV000205455 RCV000217289 RCV000519500 RCV001711360 RCV003997660 RCV005025335

NM_000179.3(MSH6):c.4002-8A>C

SNV
Germline

Chr2:47806771

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Condition: not provided
not specified
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA072767

rs_778957100

9 SubmittersRCV000205656 RCV000579624 RCV001354582 RCV001711614 RCV002267938 RCV003997591 RCV005420756

NM_000249.4(MLH1):c.44T>C (p.Val15Ala)

SNV
Germline

Chr3:36993591

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349380

rs_864622396

7 SubmittersRCV000205194 RCV001022596 RCV004567466 RCV003997614 RCV006270358

NM_000249.4(MLH1):c.552A>T (p.Ser184=)

SNV
Germline

Chr3:37011826

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
MLH1-related disorder
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA349361

rs_35225190

10 SubmittersRCV000205167 RCV000445067 RCV000571731 RCV001284648 RCV003897445 RCV003997605 RCV005246790

NM_000249.4(MLH1):c.1122T>G (p.Ser374Arg)

SNV
Germline

Chr3:37025720

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA027194

rs_759868546

9 SubmittersRCV000206536 RCV000411042 RCV001009894 RCV001174565 RCV003997595 RCV006259192

NM_000249.4(MLH1):c.1216A>G (p.Ser406Gly)

SNV
Germline

Chr3:37025814

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA348373

rs_864622687

8 SubmittersRCV000204128 RCV000483134 RCV000572725 RCV000987169 RCV001798691 RCV003997658

NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr)

SNV
Germline

Chr3:37025868

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA028060

rs_377433038

13 SubmittersRCV000206553 RCV000485106 RCV000562644 RCV000657001 RCV000987172 RCV003997623 RCV005396641

NM_000249.4(MLH1):c.1351A>G (p.Thr451Ala)

SNV
Germline

Chr3:37025949

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA348858

rs_864622145

4 SubmittersRCV001324571 RCV001507620 RCV002381702 RCV003997567

NM_000249.4(MLH1):c.1558+1G>A

SNV
Germline

Chr3:37028933

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348840

rs_267607832

7 SubmittersRCV000204627 RCV000223493 RCV000781542 RCV001507621 RCV003454544

NM_000249.4(MLH1):c.1775G>A (p.Ser592Asn)

SNV
Germline

Chr3:37047562

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA348448

rs_587782621

7 SubmittersRCV000204209 RCV000213242 RCV000581549 RCV000764495 RCV003401106 RCV003997598

NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser)

SNV
Germline

Chr7:5977653

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Lynch syndrome 4
not specified
Condition: not provided
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA348346

rs_773393960

13 SubmittersRCV000204089 RCV000568777 RCV000662637 RCV000764721 RCV001328413 RCV001753620 RCV003150094 RCV005361196

NM_000535.7(PMS2):c.1864A>G (p.Met622Val)

SNV
Germline

Chr7:5986901

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA045710

rs_370853512

10 SubmittersRCV000221658 RCV000588546 RCV001080254 RCV005396655

NM_000535.7(PMS2):c.1849C>T (p.Pro617Ser)

SNV
Germline

Chr7:5986916

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA348389

rs_864622096

6 SubmittersRCV000204145 RCV001013406 RCV001775669 RCV003462361 RCV004806196

NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys)

SNV
Germline

Chr7:5987213

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA044318

rs_376142390

9 SubmittersRCV000206422 RCV000213296 RCV000587309 RCV000765957 RCV001160656 RCV003997572

NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg)

SNV
Germline

Chr7:5987327

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA043581

rs_146848345

11 SubmittersRCV000205844 RCV000215100 RCV000219384 RCV000780614 RCV003491960 RCV003997637

NM_000535.7(PMS2):c.1423G>A (p.Val475Met)

SNV
Germline

Chr7:5987342

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA349875

rs_864622579

4 SubmittersRCV001312363 RCV003165499 RCV003997645

NM_000535.7(PMS2):c.1225G>C (p.Gly409Arg)

SNV
Germline

Chr7:5987540

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA350571

rs_864622553

6 SubmittersRCV000206547 RCV000217628 RCV000519330 RCV004596109 RCV004806206

NM_000535.7(PMS2):c.1103A>G (p.Asn368Ser)

SNV
Germline

Chr7:5989841

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA041948

rs_777814445

7 SubmittersRCV000205079 RCV000479052 RCV000584467 RCV004806197 RCV005042438 RCV004567451

NM_000535.7(PMS2):c.962T>C (p.Val321Ala)

SNV
Germline

Chr7:5991999

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Lynch syndrome 1
not specified
Ovarian cancer
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA052638

rs_186448384

15 SubmittersRCV000206591 RCV000213107 RCV000588695 RCV000662446 RCV001093690 RCV001328038 RCV003153482 RCV002485340 RCV003997584

NM_000535.7(PMS2):c.903+4T>C

SNV
Germline

Chr7:5995530

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA052313

rs_753803330

5 SubmittersRCV000204838 RCV001018688 RCV004806199 RCV006259183

NM_000535.7(PMS2):c.139C>G (p.Leu47Val)

SNV
Germline

Chr7:6005916

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
not specified
Ovarian cancer
Lynch syndrome
Condition: not provided
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA043361

rs_766203500

12 SubmittersRCV000205693 RCV000575149 RCV000662464 RCV001193970 RCV003153480 RCV003997581 RCV004820000 RCV005042440

NM_000535.7(PMS2):c.121G>T (p.Glu41Ter)

SNV
Germline

Chr7:6005934

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA348188

rs_3209663

4 SubmittersRCV001381485 RCV003454541 RCV004782311 RCV005396635

NM_000251.3(MSH2):c.1191A>T (p.Gln397His)

SNV
Germline

Chr2:47429856

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA357776

rs_768694189

9 SubmittersRCV000210074 RCV000482758 RCV000568248 RCV000629900 RCV002267950 RCV003468974

NM_000251.3(MSH2):c.1659C>T (p.Asn553=)

SNV
Germline

Chr2:47466806

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Conflicting Classifications

CA357817

rs_869312796

5 SubmittersRCV000210193 RCV000491646 RCV000920254 RCV004767155

NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser)

SNV
Germline

Chr2:47475061

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
not specified
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA031393

rs_747504492

13 SubmittersRCV000210095 RCV000219087 RCV000530644 RCV000662912 RCV000520524 RCV003330582 RCV004541299

NM_000179.3(MSH6):c.1046A>G (p.Gln349Arg)

SNV
Germline

Chr2:47799029

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA357784

rs_869312797

6 SubmittersRCV000210099 RCV000220598 RCV000523088 RCV000524098

NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys)

SNV
Germline

Chr2:47799830

Conflicting classifications of pathogenicity

Lynch syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA068191

rs_772363120

11 SubmittersRCV000210205 RCV000410099 RCV000524121 RCV000575424 RCV001284178 RCV003479062

NM_000179.3(MSH6):c.2210C>T (p.Ala737Val)

SNV
Germline

Chr2:47800193

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA357802

rs_869312798

5 SubmittersRCV000210157 RCV000215593 RCV001044010

NM_000179.3(MSH6):c.2701C>A (p.Arg901Ser)

SNV
Germline

Chr2:47800684

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA069480

rs_772514245

7 SubmittersRCV000210111 RCV000217860 RCV000693978 RCV002469072 RCV004567494

NM_000249.4(MLH1):c.545G>C (p.Arg182Thr)

SNV
Germline

Chr3:37008905

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA357827

rs_587779021

3 SubmittersRCV000210209 RCV000698424 RCV003454550

NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg)

SNV
Germline

Chr7:5987062

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
not specified

Criteria Provided
Conflicting Classifications

CA357814

rs_869312801

9 SubmittersRCV000210189 RCV000217199 RCV000479827 RCV000524444 RCV003468975 RCV003493511

NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter)

SNV
Germline

Chr2:47445655

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10576596

rs_876657701

6 SubmittersRCV000220084 RCV000492035 RCV000630030 RCV001264489 RCV003454595 RCV004760441

NM_000179.3(MSH6):c.248C>G (p.Ala83Gly)

SNV
Germline

Chr2:47783481

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA10577249

rs_876661197

7 SubmittersRCV000586562 RCV000700193 RCV001015680 RCV003998641 RCV005396733

NM_000179.3(MSH6):c.359T>C (p.Ile120Thr)

SNV
Germline

Chr2:47791025

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA071457

rs_775971872

12 SubmittersRCV000214442 RCV000589961 RCV000629813 RCV000708853 RCV000986701 RCV003462406

NM_000179.3(MSH6):c.599C>G (p.Ser200Ter)

SNV
Germline

Chr2:47796035

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10577254

rs_63751077

5 SubmittersRCV000217643 RCV000491993 RCV000692262 RCV003463614 RCV003454671

NM_000179.3(MSH6):c.898C>T (p.Arg300Trp)

SNV
Germline

Chr2:47798881

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA073553

rs_779858670

9 SubmittersRCV000220107 RCV000465049 RCV000566281 RCV001798725 RCV002229338 RCV003998626 RCV004567681

NM_000179.3(MSH6):c.1858G>A (p.Gly620Ser)

SNV
Germline

Chr2:47799841

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
MSH6-related disorder
Endometrial carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA10577265

rs_876661043

12 SubmittersRCV000215890 RCV000225881 RCV000569553 RCV000662360 RCV003998620 RCV004541361 RCV004567677 RCV005895073

NM_000179.3(MSH6):c.910G>A (p.Val304Met)

SNV
Germline

Chr2:47798893

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA10577267

rs_876661207

9 SubmittersRCV000220303 RCV000540281 RCV000663285 RCV000771395 RCV004806249 RCV005396734

NM_000179.3(MSH6):c.1729C>G (p.Arg577Gly)

SNV
Germline

Chr2:47799712

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome
MSH6-related disorder
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA068077

rs_542838372

11 SubmittersRCV000223441 RCV000555846 RCV000564916 RCV000766399 RCV003469114 RCV003998645 RCV004739624 RCV005025371

NM_000179.3(MSH6):c.2195G>A (p.Arg732Gln)

SNV
Germline/somatic

Chr2:47800178

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068599

rs_749746725

7 SubmittersRCV000223534 RCV000532996 RCV000564357 RCV000758666

NM_000179.3(MSH6):c.2673C>G (p.Ile891Met)

SNV
Germline

Chr2:47800656

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069419

rs_146006741

4 SubmittersRCV000215122 RCV000473265 RCV001016279 RCV003998617

NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys)

SNV
Germline

Chr2:47800889

Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome 5
Gastric cancer
Endometrial carcinoma

Reviewed By Expert Panel

CA069803

rs_63749919

9 SubmittersRCV000218181 RCV000458194 RCV000491101 RCV000623975 RCV002467444 RCV003165582 RCV003463615

NM_000179.3(MSH6):c.2693C>G (p.Pro898Arg)

SNV
Germline

Chr2:47800676

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
not specified
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA10577281

rs_876661281

9 SubmittersRCV000530480 RCV000563804 RCV000588498 RCV000708880 RCV001375486 RCV005361361

NM_000179.3(MSH6):c.2963G>A (p.Arg988His)

SNV
Germline

Chr2:47800946

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA069876

rs_115386788

8 SubmittersRCV000214813 RCV000534216 RCV000566696 RCV001354499 RCV003998623 RCV005420864

NM_000179.3(MSH6):c.2899A>G (p.Ile967Val)

SNV
Germline

Chr2:47800882

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577283

rs_876661067

8 SubmittersRCV000214691 RCV000461768 RCV000573070 RCV000657064 RCV003153515 RCV003998622

NM_000179.3(MSH6):c.3257C>T (p.Pro1086Leu)

SNV
Germline

Chr2:47803504

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577285

rs_780345806

8 SubmittersRCV000222192 RCV000536806 RCV000562792 RCV001174616 RCV005031804 RCV003998628

NM_000179.3(MSH6):c.3703C>G (p.Leu1235Val)

SNV
Germline

Chr2:47806260

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10577292

rs_876661084

9 SubmittersRCV000218152 RCV000570599 RCV000630095 RCV003998627 RCV005361356

NM_000179.3(MSH6):c.3946G>C (p.Gly1316Arg)

SNV
Germline

Chr2:47806596

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA072354

rs_773675555

4 SubmittersRCV000221062 RCV001205042 RCV002354622 RCV003333744

NM_000179.3(MSH6):c.3979A>C (p.Asn1327His)

SNV
Germline

Chr2:47806629

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA072425

rs_756216566

10 SubmittersRCV000216522 RCV000567812 RCV000630217 RCV001201279 RCV003463610 RCV003998616 RCV005396732

NM_000249.4(MLH1):c.157G>A (p.Glu53Lys)

SNV
Germline

Chr3:36996659

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577301

rs_63751199

5 SubmittersRCV000219506 RCV000581145 RCV000701302 RCV003998631

NM_000249.4(MLH1):c.392C>G (p.Ser131Ter)

SNV
Germline

Chr3:37007002

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10577305

rs_63749818

5 SubmittersRCV000220277 RCV001380045 RCV002354620 RCV001804961 RCV003454662

NM_000249.4(MLH1):c.307-2A>G

SNV
Germline

Chr3:37004399

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary breast ovarian cancer syndrome
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Multiple Submitters
No Conflicts

CA10577306

rs_267607732

6 SubmittersRCV000214340 RCV000567906 RCV001379076 RCV003454676 RCV004794378 RCV006277756

NM_000249.4(MLH1):c.991G>A (p.Glu331Lys)

SNV
Germline

Chr3:37020416

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
MLH1-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039274

rs_550914672

14 SubmittersRCV000213338 RCV000222012 RCV000537429 RCV001257463 RCV001818518 RCV003417783 RCV003997823

NM_000249.4(MLH1):c.1490G>A (p.Arg497Gln)

SNV
Germline

Chr3:37028864

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA029036

rs_754554026

9 SubmittersRCV000214903 RCV000462302 RCV000774707 RCV001264530 RCV003998618 RCV004567675

NM_000249.4(MLH1):c.1245T>G (p.Asp415Glu)

SNV
Germline

Chr3:37025843

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027881

rs_750563193

7 SubmittersRCV000217953 RCV000568159 RCV001060734 RCV001328459 RCV004786612 RCV004806250

NM_000249.4(MLH1):c.1538T>C (p.Ile513Thr)

SNV
Germline

Chr3:37028912

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577313

rs_876658689

7 SubmittersRCV000219458 RCV000220692 RCV001420849 RCV001214215 RCV003462446 RCV003997854

NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu)

SNV
Germline

Chr3:37047663

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA031166

rs_377241633

13 SubmittersRCV000214440 RCV000216958 RCV000462112 RCV000708930 RCV003475015 RCV003330588 RCV005365155

NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr)

SNV
Germline/somatic

Chr7:5973428

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch-like syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA048880

rs_574371474

8 SubmittersRCV000217218 RCV000222472 RCV000530024 RCV000764718 RCV001249991 RCV005600833

NM_000535.7(PMS2):c.2445+1G>T

SNV
Germline

Chr7:5977587

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Carcinoma of colon
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Lynch syndrome
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Multiple Submitters
No Conflicts

CA10577331

rs_876661113

19 SubmittersRCV000219334 RCV000228982 RCV000507182 RCV000575263 RCV001193818 RCV001358436 RCV002494606 RCV002288907 RCV004017528 RCV005863058

NM_000535.7(PMS2):c.2011A>G (p.Thr671Ala)

SNV
Germline

Chr7:5982987

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA10577333

rs_876661087

4 SubmittersRCV000217200 RCV001054379 RCV002415911 RCV004567682

NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn)

SNV
Germline

Chr7:5978605

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA047182

rs_762206330

9 SubmittersRCV000223544 RCV000465930 RCV001014982 RCV001527024 RCV003469106

NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter)

SNV
Germline

Chr7:5973466

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10577334

rs_876661203

4 SubmittersRCV000217259 RCV000533097 RCV002429081 RCV004020709

NM_000535.7(PMS2):c.1430C>A (p.Ser477Tyr)

SNV
Germline

Chr7:5987335

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577343

rs_876661291

6 SubmittersRCV000217395 RCV000472890 RCV000563463 RCV003153517 RCV003998648

NM_000535.7(PMS2):c.675A>C (p.Glu225Asp)

SNV
Germline

Chr7:5999138

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4
not specified
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA10577348

rs_876661233

10 SubmittersRCV000217891 RCV000563797 RCV000698159 RCV000765964 RCV003230461 RCV003998642 RCV004567686

NM_000535.7(PMS2):c.631C>T (p.Arg211Ter)

SNV
Germline

Chr7:5999182

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4
Gastric cancer
Mismatch repair cancer syndrome 4
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Multiple Submitters
No Conflicts

CA050695

rs_760228510

14 SubmittersRCV000222317 RCV000473579 RCV000568505 RCV001174885 RCV003454666 RCV003165579 RCV003315238 RCV006277755

NM_000535.7(PMS2):c.353+1G>A

SNV
Germline

Chr7:6003689

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA10577352

rs_113517055

8 SubmittersRCV000217968 RCV000476751 RCV000776211 RCV002265698 RCV003153516 RCV005431562

NM_000535.7(PMS2):c.321G>C (p.Arg107=)

SNV
Germline

Chr7:6003722

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA10577358

rs_756420858

7 SubmittersRCV000213219 RCV001019303 RCV001487947 RCV003998635 RCV005420866

NM_000535.7(PMS2):c.7C>T (p.Arg3Ter)

SNV
Germline

Chr7:6009013

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10577360

rs_763939668

7 SubmittersRCV000222827 RCV001069268 RCV002415912 RCV003454674

NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)

SNV
Germline

Chr7:6009009

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA042517

rs_745361721

15 SubmittersRCV000214339 RCV000222258 RCV000230374 RCV000657052 RCV000662535 RCV001354151 RCV003997985

NM_000251.3(MSH2):c.-82G>C

SNV
Germline

Chr2:47403110

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Breast and/or ovarian cancer
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA10577908

rs_866991159

7 SubmittersRCV000219414 RCV001267894 RCV001549839 RCV003491972 RCV005361286 RCV005090087

NM_000251.3(MSH2):c.11A>T (p.Gln4Leu)

SNV
Germline

Chr2:47403202

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA027207

rs_754562075

6 SubmittersRCV000219790 RCV000235807 RCV000473744 RCV000663256

NM_000251.3(MSH2):c.149C>A (p.Ala50Glu)

SNV
Germline

Chr2:47403340

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA10577920

rs_876658582

5 SubmittersRCV000215229 RCV000554733 RCV002264919 RCV005365149

NM_000251.3(MSH2):c.157G>T (p.Ala53Ser)

SNV
Germline

Chr2:47403348

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA029624

rs_755931648

6 SubmittersRCV000222303 RCV000708826 RCV000813496 RCV003469045 RCV005438360

NM_000251.3(MSH2):c.160G>A (p.Ala54Thr)

SNV
Germline

Chr2:47403351

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10577921

rs_749212640

8 SubmittersRCV000220104 RCV000814579 RCV000679293 RCV003997771 RCV005025356

NM_000251.3(MSH2):c.183G>T (p.Gln61His)

SNV
Germline

Chr2:47403374

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA031694

rs_751082926

6 SubmittersRCV000216596 RCV000537297 RCV001753678 RCV005396726

NM_000251.3(MSH2):c.200T>A (p.Met67Lys)

SNV
Germline

Chr2:47403391

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10577924

rs_876660001

7 SubmittersRCV000222393 RCV000550333 RCV000662879 RCV001762495

NM_000251.3(MSH2):c.260C>A (p.Ser87Tyr)

SNV
Germline

Chr2:47408449

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577927

rs_587781447

6 SubmittersRCV000216857 RCV000235359 RCV001320134 RCV002254690 RCV003997919

NM_000251.3(MSH2):c.266T>C (p.Val89Ala)

SNV
Germline

Chr2:47408455

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
not specified
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10577929

rs_876659747

7 SubmittersRCV000215101 RCV000227027 RCV001030705 RCV001532987 RCV003997972 RCV005420821

NM_000251.3(MSH2):c.272A>T (p.Asp91Val)

SNV
Germline

Chr2:47408461

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577931

rs_876660914

6 SubmittersRCV000218027 RCV000629774 RCV002288900 RCV003463604 RCV003998605

NM_000251.3(MSH2):c.320C>G (p.Ala107Gly)

SNV
Germline

Chr2:47408509

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10577932

rs_876658935

5 SubmittersRCV000221016 RCV000702606 RCV003469023 RCV004822018

NM_000251.3(MSH2):c.433A>G (p.Ile145Val)

SNV
Germline

Chr2:47410160

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577937

rs_876659264

8 SubmittersRCV000221599 RCV000465648 RCV000483760 RCV000662917 RCV000780457 RCV003997912

NM_000251.3(MSH2):c.488T>C (p.Val163Ala)

SNV
Germline

Chr2:47410215

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577939

rs_63750214

4 SubmittersRCV000221949 RCV001365859 RCV003997762

NM_000251.3(MSH2):c.755A>C (p.Gln252Pro)

SNV
Germline

Chr2:47412523

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10577948

rs_370906735

7 SubmittersRCV000221892 RCV000538161 RCV001139363 RCV003997867 RCV006547838

NM_000251.3(MSH2):c.763A>G (p.Ser255Gly)

SNV
Germline

Chr2:47412531

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA040330

rs_761529282

6 SubmittersRCV000222095 RCV000526634 RCV000757937 RCV005246832

NM_000251.3(MSH2):c.812C>A (p.Ser271Tyr)

SNV
Germline

Chr2:47414288

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577954

rs_139891783

4 SubmittersRCV000214470 RCV000819833 RCV003156236 RCV004806232

NM_000251.3(MSH2):c.816G>A (p.Ala272=)

SNV
Germline

Chr2:47414292

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA040753

rs_368912987

9 SubmittersRCV000214094 RCV000545840 RCV001139364 RCV001558615 RCV003998022

NM_000251.3(MSH2):c.855C>G (p.Asn285Lys)

SNV
Germline

Chr2:47414331

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577957

rs_759242666

8 SubmittersRCV000213764 RCV000506029 RCV000548278 RCV002243895 RCV003462428 RCV003997816

NM_000251.3(MSH2):c.885C>G (p.Asp295Glu)

SNV
Germline

Chr2:47414361

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA041012

rs_201334592

11 SubmittersRCV000220130 RCV000411007 RCV000469366 RCV000589679 RCV003997848 RCV005055758

NM_000251.3(MSH2):c.888C>G (p.Phe296Leu)

SNV
Germline

Chr2:47414364

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577958

rs_876659918

6 SubmittersRCV000214812 RCV000659880 RCV001067169 RCV003997995

NM_000251.3(MSH2):c.938T>C (p.Phe313Ser)

SNV
Germline

Chr2:47414414

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA041188

rs_780656204

6 SubmittersRCV000219588 RCV000461288 RCV003469076 RCV003998553 RCV005365167

NM_000251.3(MSH2):c.1012G>C (p.Gly338Arg)

SNV
Germline

Chr2:47416365

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10577964

rs_63751004

4 SubmittersRCV000218258 RCV000255930 RCV001232403 RCV003454644

NM_000251.3(MSH2):c.1021C>G (p.Leu341Val)

SNV
Germline

Chr2:47416374

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA026646

rs_748115066

10 SubmittersRCV000220354 RCV000232111 RCV000236110 RCV000662429 RCV003997950

NM_000251.3(MSH2):c.1062C>T (p.Asn354=)

SNV
Germline

Chr2:47416415

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10577966

rs_876659861

6 SubmittersRCV000215205 RCV002057206 RCV003997986 RCV005246840

NM_000251.3(MSH2):c.1077-3C>T

SNV
Germline

Chr2:47429739

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA026916

rs_758182607

8 SubmittersRCV000221368 RCV000235545 RCV000629733 RCV002267962 RCV003150127 RCV003997988

NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg)

SNV
Germline

Chr2:47429786

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA027012

rs_749660228

10 SubmittersRCV000213803 RCV000483512 RCV001175089 RCV001080950 RCV001093680 RCV001355857 RCV003491975

NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys)

SNV
Germline

Chr2:47429809

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA027079

rs_752373431

12 SubmittersRCV000214618 RCV000409794 RCV000480571 RCV000546544 RCV000761006 RCV003387810

NM_000251.3(MSH2):c.1250T>G (p.Val417Gly)

SNV
Germline

Chr2:47429915

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10577969

rs_876659846

6 SubmittersRCV000216853 RCV001072003 RCV001800565 RCV004567607

NM_000251.3(MSH2):c.1390G>T (p.Glu464Ter)

SNV
Germline

Chr2:47463034

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10577974

rs_876658223

5 SubmittersRCV000215886 RCV002229540 RCV002519663 RCV003454612 RCV004806215

NM_000251.3(MSH2):c.1465G>A (p.Glu489Lys)

SNV
Germline

Chr2:47463109

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577978

rs_876658187

11 SubmittersRCV000222532 RCV000236848 RCV000473755 RCV000663243 RCV003997770

NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro)

SNV
Germline

Chr2:47463124

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome 1
Lynch syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA028810

rs_55653533

9 SubmittersRCV000219106 RCV000475338 RCV001589154 RCV002485427 RCV003462508 RCV003998020 RCV006450081

NM_000251.3(MSH2):c.1489A>G (p.Ile497Val)

SNV
Germline

Chr2:47463133

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA028875

rs_755501968

10 SubmittersRCV000219613 RCV000483517 RCV000630079 RCV000986672 RCV002229222 RCV003997850

NM_000251.3(MSH2):c.1539G>A (p.Leu513=)

SNV
Germline

Chr2:47466686

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA029432

rs_777195739

6 SubmittersRCV000214600 RCV000462815 RCV003477771 RCV003998597 RCV005246860

NM_000251.3(MSH2):c.1645G>A (p.Val549Ile)

SNV
Germline

Chr2:47466792

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10577979

rs_876659905

5 SubmittersRCV000218213 RCV000629673 RCV003462501 RCV004998472

NM_000251.3(MSH2):c.1661+5G>A

SNV
Germline

Chr2:47466813

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10577982

rs_267607972

4 SubmittersRCV000216875 RCV001220176 RCV002282051 RCV005237735

NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile)

SNV
Germline

Chr2:47471051

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10577984

rs_201118107

14 SubmittersRCV000220254 RCV000230549 RCV000663329 RCV001358260 RCV001800541 RCV001818514

NM_000251.3(MSH2):c.1825G>T (p.Ala609Ser)

SNV
Germline

Chr2:47475090

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA031583

rs_150980616

7 SubmittersRCV000223424 RCV000477055 RCV000765670 RCV001550360 RCV003997795 RCV004532776

NM_000251.3(MSH2):c.1943T>A (p.Ile648Asn)

SNV
Germline

Chr2:47475208

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA032124

rs_763100088

9 SubmittersRCV000222363 RCV000523371 RCV000629936 RCV001355204 RCV003469093 RCV003998593

NM_000251.3(MSH2):c.1946C>T (p.Ala649Val)

SNV
Germline

Chr2:47475211

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH2-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA10577989

rs_876659816

6 SubmittersRCV000220154 RCV001220357 RCV003997980 RCV004734876 RCV005235140

NM_000251.3(MSH2):c.1967A>G (p.Tyr656Cys)

SNV
Germline

Chr2:47475232

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA032208

rs_185356145

9 SubmittersRCV000213193 RCV000477485 RCV000791407 RCV000985799 RCV003469050 RCV004532791

NM_000251.3(MSH2):c.1999A>G (p.Ile667Val)

SNV
Germline

Chr2:47475264

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10577992

rs_876660585

3 SubmittersRCV000217308 RCV001301645 RCV003462530

NM_000251.3(MSH2):c.2030C>G (p.Thr677Arg)

SNV
Germline

Chr2:47476391

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10577995

rs_876660711

8 SubmittersRCV000215510 RCV000462315 RCV000484436 RCV003454658 RCV006268679

NM_000251.3(MSH2):c.2032T>C (p.Tyr678His)

SNV
Germline

Chr2:47476393

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10577996

rs_876659093

3 SubmittersRCV000221435 RCV002228960 RCV003462461

NM_000251.3(MSH2):c.2099C>A (p.Ala700Glu)

SNV
Germline

Chr2:47476460

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10577997

rs_876658251

2 SubmittersRCV000215093 RCV003454614

NM_000251.3(MSH2):c.2102A>C (p.Glu701Ala)

SNV
Germline

Chr2:47476463

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577998

rs_876659187

5 SubmittersRCV000221209 RCV000479697 RCV000553991 RCV003997901

NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr)

SNV
Germline

Chr2:47476472

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Lynch syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA033790

rs_564657106

10 SubmittersRCV000222410 RCV000227730 RCV000411876 RCV000483732 RCV000708841 RCV001356541

NM_000251.3(MSH2):c.2120G>C (p.Cys707Ser)

SNV
Germline

Chr2:47476481

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA034085

rs_373226409

6 SubmittersRCV000213584 RCV000795839 RCV003137826 RCV003998040

NM_000251.3(MSH2):c.2158A>G (p.Lys720Glu)

SNV
Germline

Chr2:47476519

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
MSH2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA034415

rs_747265823

5 SubmittersRCV000214268 RCV000524727 RCV004567613 RCV004532799 RCV004777630

NM_000251.3(MSH2):c.2206C>T (p.Leu736Phe)

SNV
Germline

Chr2:47476567

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578000

rs_876658727

3 SubmittersRCV000213595 RCV002518276 RCV003997857

NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser)

SNV
Germline

Chr2:47478321

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA035112

rs_757268664

9 SubmittersRCV000221755 RCV000464199 RCV000780438 RCV001843496 RCV002485413 RCV003997767 RCV004020644

NM_000251.3(MSH2):c.2272G>T (p.Asp758Tyr)

SNV
Germline

Chr2:47478333

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10578001

rs_876658254

4 SubmittersRCV000215978 RCV001222233 RCV003454615

NM_000251.3(MSH2):c.2447A>G (p.Gln816Arg)

SNV
Germline

Chr2:47478508

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035821

rs_768572053

6 SubmittersRCV000221679 RCV000985803 RCV001236583 RCV003153497 RCV003997783

NM_000251.3(MSH2):c.2515C>G (p.His839Asp)

SNV
Germline

Chr2:47480752

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA10578009

rs_876659466

5 SubmittersRCV000218052 RCV000629882 RCV001175264 RCV003997937 RCV005361306

NM_000251.3(MSH2):c.2580G>A (p.Ser860=)

SNV
Germline

Chr2:47480817

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
not specified
MSH2-related disorder
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA036718

rs_752428475

12 SubmittersRCV000217383 RCV000229354 RCV001142095 RCV001722191 RCV003330590 RCV004532792 RCV003997953 RCV005361310

NM_000251.3(MSH2):c.2634+2T>G

SNV
Germline

Chr2:47480873

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578012

rs_876660546

3 SubmittersRCV000219827 RCV000985806 RCV003454651

NM_000251.3(MSH2):c.2718A>G (p.Ile906Met)

SNV
Germline

Chr2:47482862

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578017

rs_876659835

4 SubmittersRCV000216683 RCV002229281 RCV003997983

NM_000179.3(MSH6):c.3G>T (p.Met1Ile)

SNV
Germline

Chr2:47783236

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA10578019

rs_876660095

5 SubmittersRCV000219646 RCV000485238 RCV000680209 RCV000793054

NM_000179.3(MSH6):c.63C>G (p.Asn21Lys)

SNV
Germline

Chr2:47783296

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578021

rs_876660097

5 SubmittersRCV000216301 RCV000479204 RCV000814244 RCV003998016

NM_000179.3(MSH6):c.135C>A (p.Gly45=)

SNV
Germline

Chr2:47783368

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10578023

rs_876659020

7 SubmittersRCV000220037 RCV000464611 RCV003477728 RCV003997888 RCV005420800

NM_000179.3(MSH6):c.184C>A (p.Arg62Ser)

SNV
Germline

Chr2:47783417

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10578027

rs_876659508

8 SubmittersRCV000219210 RCV000697068 RCV001705217 RCV003997941 RCV005600842

NM_000179.3(MSH6):c.249T>G (p.Ala83=)

SNV
Germline

Chr2:47783482

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578030

rs_876658308

7 SubmittersRCV000215709 RCV000663019 RCV000874029 RCV003997788

NM_000179.3(MSH6):c.494T>G (p.Phe165Cys)

SNV
Germline

Chr2:47795930

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Hereditary cancer
not specified

Criteria Provided
Conflicting Classifications

CA073070

rs_763841886

8 SubmittersRCV000215845 RCV000534390 RCV001762481 RCV003997884 RCV004698831 RCV006452518

NM_000179.3(MSH6):c.627+3G>A

SNV
Germline

Chr2:47796066

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10578039

rs_876659495

5 SubmittersRCV000217995 RCV000434456 RCV001068314 RCV005425840

NM_000179.3(MSH6):c.637A>C (p.Thr213Pro)

SNV
Germline

Chr2:47798620

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578041

rs_876659071

9 SubmittersRCV000215713 RCV000555550 RCV000663154 RCV002280111 RCV003462459 RCV004526646 RCV003997891

NM_000179.3(MSH6):c.667A>G (p.Asn223Asp)

SNV
Germline

Chr2:47798650

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Malignant tumor of breast
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073334

rs_374041375

7 SubmittersRCV000223134 RCV000228836 RCV001201254 RCV001355754 RCV003462500 RCV003997984

NM_000179.3(MSH6):c.719G>A (p.Arg240Gln)

SNV
Germline

Chr2:47798702

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073373

rs_542848931

10 SubmittersRCV000216536 RCV000476259 RCV000481509 RCV000659888 RCV000781606 RCV003462452 RCV003997874

NM_000179.3(MSH6):c.942C>G (p.Ser314Arg)

SNV
Germline

Chr2:47798925

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Lynch syndrome
not specified
MSH6-related disorder
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA073603

rs_150440246

13 SubmittersRCV000219163 RCV000475100 RCV000478810 RCV000659889 RCV000761132 RCV002265689 RCV004739607 RCV005361247

NM_000179.3(MSH6):c.972A>C (p.Lys324Asn)

SNV
Germline

Chr2:47798955

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578055

rs_876658610

12 SubmittersRCV000216324 RCV000229706 RCV000483787 RCV000663012 RCV001328357 RCV003462441 RCV003997842

NM_000179.3(MSH6):c.1035T>A (p.Asn345Lys)

SNV
Germline

Chr2:47799018

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067060

rs_765166082

5 SubmittersRCV000223357 RCV000798414 RCV003463597 RCV004806246

NM_000179.3(MSH6):c.1127A>G (p.Glu376Gly)

SNV
Germline

Chr2:47799110

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Hereditary nonpolyposis colon cancer
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067175

rs_764150912

10 SubmittersRCV000213418 RCV000791357 RCV001559019 RCV003462454 RCV003993897 RCV003993896 RCV004806223

NM_000179.3(MSH6):c.1403G>C (p.Arg468Pro)

SNV
Germline

Chr2:47799386

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578069

rs_41295268

7 SubmittersRCV000223504 RCV000456959 RCV000486815 RCV003469073 RCV003998047

NM_000179.3(MSH6):c.1501C>T (p.His501Tyr)

SNV
Germline

Chr2:47799484

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome
MSH6-related disorder
Endometrial carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA067771

rs_779411998

9 SubmittersRCV000223633 RCV000467079 RCV001093674 RCV001354875 RCV004532793 RCV004567593 RCV006259269

NM_000179.3(MSH6):c.1525G>C (p.Val509Leu)

SNV
Germline

Chr2:47799508

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578073

rs_876660317

6 SubmittersRCV000218406 RCV000466630 RCV000481397 RCV003469072 RCV003998046

NM_000179.3(MSH6):c.1537A>G (p.Ile513Val)

SNV
Germline

Chr2:47799520

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067819

rs_746897461

5 SubmittersRCV000221108 RCV000550953 RCV003469083 RCV003998570

NM_000179.3(MSH6):c.1656T>A (p.His552Gln)

SNV
Germline

Chr2:47799639

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067967

rs_745937181

6 SubmittersRCV000215555 RCV000463760 RCV001753682 RCV003998606

NM_000179.3(MSH6):c.1870G>A (p.Gly624Ser)

SNV
Germline

Chr2:47799853

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA10578081

rs_868760377

13 SubmittersRCV000219912 RCV000233003 RCV000484834 RCV000662524 RCV000657004 RCV003997865 RCV003469017

NM_000179.3(MSH6):c.1871G>T (p.Gly624Val)

SNV
Germline

Chr2:47799854

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
MSH6-related disorder
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA068227

rs_763606858

8 SubmittersRCV000217487 RCV000464191 RCV000480702 RCV001293521 RCV003998588 RCV004739620 RCV005025364

NM_000179.3(MSH6):c.1957G>A (p.Val653Met)

SNV
Germline

Chr2:47799940

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA10578088

rs_768095444

6 SubmittersRCV000222892 RCV000478131 RCV000629954 RCV003998550 RCV005365166

NM_000179.3(MSH6):c.1957G>C (p.Val653Leu)

SNV
Germline

Chr2:47799940

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068319

rs_768095444

3 SubmittersRCV000223386 RCV000707381 RCV003997846

NM_000179.3(MSH6):c.2032G>C (p.Glu678Gln)

SNV
Germline

Chr2:47800015

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA068389

rs_751778243

7 SubmittersRCV000213514 RCV000529803 RCV000985829 RCV003997791 RCV003468992

NM_000179.3(MSH6):c.2137G>A (p.Asp713Asn)

SNV
Germline

Chr2:47800120

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578093

rs_876660123

6 SubmittersRCV000221120 RCV000525574 RCV000997142 RCV003462507 RCV003998019

NM_000179.3(MSH6):c.2258C>G (p.Ser753Cys)

SNV
Germline

Chr2:47800241

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578102

rs_876660934

9 SubmittersRCV000219984 RCV000473229 RCV000985831 RCV003463605 RCV003998608

NM_000179.3(MSH6):c.2331G>A (p.Trp777Ter)

SNV
Germline

Chr2:47800314

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10578104

rs_876660037

2 SubmittersRCV000214405 RCV003454645

NM_000179.3(MSH6):c.2347T>A (p.Cys783Ser)

SNV
Germline

Chr2:47800330

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA068851

rs_373721483

11 SubmittersRCV000222377 RCV000465704 RCV000708874 RCV001800572 RCV001789766 RCV003462514 RCV004541356

NM_000179.3(MSH6):c.2372G>A (p.Arg791His)

SNV
Germline

Chr2:47800355

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA068883

rs_755587950

6 SubmittersRCV000219569 RCV000470330 RCV002282050 RCV003997769 RCV004589913

NM_000179.3(MSH6):c.2501G>A (p.Ser834Asn)

SNV
Germline

Chr2:47800484

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA069123

rs_752544046

7 SubmittersRCV000217167 RCV000461932 RCV000985833 RCV002247652 RCV003997908 RCV003462469

NM_000179.3(MSH6):c.2651C>G (p.Ser884Cys)

SNV
Germline

Chr2:47800634

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578110

rs_561217424

5 SubmittersRCV000218914 RCV000694383 RCV003462448 RCV003997863

NM_000179.3(MSH6):c.2668G>T (p.Val890Phe)

SNV
Germline

Chr2:47800651

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578112

rs_786202628

10 SubmittersRCV000222312 RCV000507745 RCV000818639 RCV002478792 RCV002508928 RCV003462456 RCV004806224

NM_000179.3(MSH6):c.2688A>G (p.Lys896=)

SNV
Germline

Chr2:47800671

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10578114

rs_876659173

6 SubmittersRCV000215937 RCV000431126 RCV001442559 RCV003477730 RCV005420805

NM_000179.3(MSH6):c.2770A>T (p.Thr924Ser)

SNV
Germline

Chr2:47800753

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069606

rs_758873844

7 SubmittersRCV000218606 RCV000486781 RCV000629928 RCV003468985 RCV004806217

NM_000179.3(MSH6):c.2857G>A (p.Glu953Lys)

SNV
Germline

Chr2:47800840

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Malignant tumor of breast
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069715

rs_753034685

10 SubmittersRCV000213285 RCV000485366 RCV000555735 RCV000781579 RCV001355880 RCV003462414 RCV003335237 RCV003997779

NM_000179.3(MSH6):c.2934G>A (p.Gln978=)

SNV
Germline

Chr2:47800917

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA069835

rs_751780309

7 SubmittersRCV000221858 RCV000586433 RCV000630362 RCV004998487 RCV005420856

NM_000179.3(MSH6):c.2963G>T (p.Arg988Leu)

SNV
Germline

Chr2:47800946

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA069886

rs_115386788

10 SubmittersRCV000223636 RCV000465720 RCV000589846 RCV000708883 RCV003462404 RCV005025355

NM_000179.3(MSH6):c.2974G>A (p.Glu992Lys)

SNV
Germline

Chr2:47800957

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069899

rs_774755404

7 SubmittersRCV000222273 RCV000464929 RCV000478635 RCV003469091 RCV003998590

NM_000179.3(MSH6):c.2975A>G (p.Glu992Gly)

SNV
Germline

Chr2:47800958

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578124

rs_876660688

6 SubmittersRCV000219717 RCV000792117 RCV003463593 RCV003998583

NM_000179.3(MSH6):c.2983G>A (p.Glu995Lys)

SNV
Germline

Chr2:47800966

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10578125

rs_63750258

6 SubmittersRCV000218455 RCV000467310 RCV004998477 RCV004567625 RCV005055092

NM_000179.3(MSH6):c.2986T>C (p.Leu996=)

SNV
Germline

Chr2:47800969

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10578126

rs_876658605

7 SubmittersRCV000215558 RCV000535154 RCV000606373 RCV005425823

NM_000179.3(MSH6):c.3079G>C (p.Val1027Leu)

SNV
Germline

Chr2:47801062

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578129

rs_876658397

8 SubmittersRCV000216842 RCV000227272 RCV000503628 RCV001080207 RCV003330587 RCV003997803

NM_000179.3(MSH6):c.3215G>A (p.Gly1072Asp)

SNV
Germline

Chr2:47803462

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA10578133

rs_781243845

7 SubmittersRCV000215059 RCV000814199 RCV001142304 RCV002267969 RCV003998595 RCV003469094

NM_000179.3(MSH6):c.3257C>G (p.Pro1086Arg)

SNV
Germline

Chr2:47803504

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070524

rs_780345806

4 SubmittersRCV000223078 RCV000699366 RCV003997868

NM_000179.3(MSH6):c.3313G>A (p.Gly1105Arg)

SNV
Germline

Chr2:47803560

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA070646

rs_755716475

8 SubmittersRCV000220326 RCV000461508 RCV003422122 RCV004806219 RCV005396707

NM_000179.3(MSH6):c.3417C>T (p.Gly1139=)

SNV
Germline

Chr2:47803664

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA10578141

rs_876660283

5 SubmittersRCV000221461 RCV001363003 RCV003454648 RCV005396724

NM_000179.3(MSH6):c.3467T>C (p.Met1156Thr)

SNV
Germline

Chr2:47804938

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578145

rs_876659549

7 SubmittersRCV000217088 RCV000482975 RCV000475398 RCV000662884 RCV003997945

NM_000179.3(MSH6):c.3565A>G (p.Thr1189Ala)

SNV
Germline

Chr2:47805626

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Endometrial carcinoma
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA071392

rs_753778809

8 SubmittersRCV000218856 RCV000482279 RCV000558107 RCV001798716 RCV003462471 RCV003997917 RCV003493521

NM_000179.3(MSH6):c.3724C>T (p.Arg1242Cys)

SNV
Germline

Chr2:47806281

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578156

rs_587779285

6 SubmittersRCV000218524 RCV001243869 RCV003322762 RCV003462494 RCV003997965

NM_000179.3(MSH6):c.3742C>T (p.His1248Tyr)

SNV
Germline

Chr2:47806299

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA071942

rs_63750882

8 SubmittersRCV000220341 RCV000552496 RCV001775683 RCV003224227 RCV003997889 RCV004567552

NM_000179.3(MSH6):c.3757G>A (p.Val1253Ile)

SNV
Germline

Chr2:47806314

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578159

rs_187491488

4 SubmittersRCV000223276 RCV000229787 RCV003997971

NM_000179.3(MSH6):c.3801+1G>T

SNV
Germline

Chr2:47806359

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Condition: not provided
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10578160

rs_876660943

5 SubmittersRCV000217114 RCV000226322 RCV000763498 RCV003137829 RCV003454661

NM_000179.3(MSH6):c.3841G>C (p.Glu1281Gln)

SNV
Germline

Chr2:47806491

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA10578163

rs_876659115

9 SubmittersRCV000216678 RCV000708893 RCV000704640 RCV001358640 RCV003469028

NM_000179.3(MSH6):c.3843G>A (p.Glu1281=)

SNV
Germline

Chr2:47806493

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10578164

rs_864622384

6 SubmittersRCV000217278 RCV000422813 RCV000874582 RCV005420786

NM_000179.3(MSH6):c.3845C>A (p.Thr1282Asn)

SNV
Germline

Chr2:47806495

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578165

rs_876660361

8 SubmittersRCV000218648 RCV000462482 RCV000487307 RCV000589207 RCV003462524 RCV004804924

NM_000179.3(MSH6):c.3974A>T (p.Lys1325Met)

SNV
Germline

Chr2:47806624

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578172

rs_876658189

8 SubmittersRCV000215262 RCV000485930 RCV000697066 RCV003462423 RCV003997805

NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro)

SNV
Germline

Chr2:47806651

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10578173

rs_267608122

6 SubmittersRCV000219938 RCV000459481 RCV001810439 RCV003316228

NM_000249.4(MLH1):c.43G>A (p.Val15Met)

SNV
Germline

Chr3:36993590

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578192

rs_876660301

4 SubmittersRCV000221816 RCV000479027 RCV000527289 RCV003998042

NM_000249.4(MLH1):c.109G>C (p.Glu37Gln)

SNV
Germline/somatic

Chr3:36993656

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lung cancer

Criteria Provided
Conflicting Classifications

CA10578196

rs_63751012

4 SubmittersRCV000221562 RCV000555996 RCV000664318 RCV001808580

NM_000249.4(MLH1):c.808A>G (p.Thr270Ala)

SNV
Germline

Chr3:37017523

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Lynch syndrome
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA038470

rs_371302926

12 SubmittersRCV000215834 RCV000412189 RCV000505929 RCV000475873 RCV000985258 RCV001535606 RCV003997811 RCV004748664

NM_000249.4(MLH1):c.848A>G (p.Tyr283Cys)

SNV
Germline

Chr3:37017563

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578231

rs_201931669

9 SubmittersRCV000223129 RCV000551542 RCV000588139 RCV001145069 RCV001797684 RCV003998017

NM_000249.4(MLH1):c.887T>C (p.Leu296Ser)

SNV
Germline

Chr3:37020312

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038943

rs_63750547

10 SubmittersRCV000222772 RCV000527338 RCV000588023 RCV000663054 RCV001824695 RCV003997993

NM_000249.4(MLH1):c.931A>G (p.Lys311Glu)

SNV
Germline

Chr3:37020356

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA10578235

rs_876658657

7 SubmittersRCV000216819 RCV000473970 RCV000624023 RCV000586755 RCV003469008 RCV005237737

NM_000249.4(MLH1):c.1348G>T (p.Asp450Tyr)

SNV
Germline

Chr3:37025946

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
MLH1-related disorder
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA028262

rs_752622244

8 SubmittersRCV000216865 RCV000230653 RCV001770179 RCV003997928 RCV004748665 RCV005396719

NM_000249.4(MLH1):c.1451A>G (p.Asp484Gly)

SNV
Germline

Chr3:37028825

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
MLH1-related disorder
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Sarcoma

Criteria Provided
Conflicting Classifications

CA10578251

rs_876659795

14 SubmittersRCV000213760 RCV000522050 RCV000560187 RCV003226256 RCV004748666 RCV003997978 RCV005246839 RCV005361319 RCV005895046

NM_000249.4(MLH1):c.1468A>G (p.Met490Val)

SNV
Germline

Chr3:37028842

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA028900

rs_776671941

5 SubmittersRCV000220644 RCV000630039 RCV003997967 RCV004567600 RCV005252823

NM_000249.4(MLH1):c.1698T>C (p.Tyr566=)

SNV
Germline

Chr3:37042298

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA10578260

rs_876658915

9 SubmittersRCV000220192 RCV000287269 RCV000925925 RCV001668387 RCV004806222 RCV005365153

NM_000249.4(MLH1):c.1766C>T (p.Ala589Val)

SNV
Germline

Chr3:37047553

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10578263

rs_63750016

7 SubmittersRCV000215690 RCV000461364 RCV002509323 RCV003469086 RCV003998572 RCV006259290

NM_000249.4(MLH1):c.1823C>T (p.Ala608Val)

SNV
Germline

Chr3:37047610

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Familial colorectal cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA030974

rs_267607864

8 SubmittersRCV000221100 RCV000474071 RCV000484604 RCV001824697 RCV003462512 RCV003998029

NM_000249.4(MLH1):c.1874A>G (p.Tyr625Cys)

SNV
Germline

Chr3:37047661

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA031145

rs_748851107

9 SubmittersRCV000223006 RCV000698245 RCV001255521 RCV001547023 RCV003462495 RCV003997970

NM_000249.4(MLH1):c.1924C>G (p.Leu642Val)

SNV
Germline

Chr3:37048544

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578268

rs_577217817

8 SubmittersRCV000219171 RCV000797456 RCV002222451 RCV004701290 RCV003997957

NM_000249.4(MLH1):c.2107G>A (p.Glu703Lys)

SNV
Germline

Chr3:37050489

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA10578276

rs_747727493

4 SubmittersRCV000218150 RCV000708932 RCV001050471

NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter)

SNV
Germline

Chr7:5982843

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10578653

rs_876659480

7 SubmittersRCV000219006 RCV000482925 RCV001193969 RCV002515651 RCV003454638

NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)

SNV
Germline

Chr7:5982861

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10578654

rs_876659900

5 SubmittersRCV000216032 RCV001056896 RCV000760558 RCV003454641

NM_000535.7(PMS2):c.1720C>G (p.Pro574Ala)

SNV
Germline

Chr7:5987045

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA045370

rs_758018736

6 SubmittersRCV000220236 RCV000629788 RCV002229221 RCV003997849 RCV004742339

NM_000535.7(PMS2):c.1718C>A (p.Thr573Asn)

SNV
Germline

Chr7:5987047

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10578664

rs_876660076

6 SubmittersRCV000216954 RCV000473171 RCV003998011 RCV004772871

NM_000535.7(PMS2):c.1682A>C (p.Lys561Thr)

SNV
Germline

Chr7:5987083

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578665

rs_876658481

4 SubmittersRCV000217300 RCV000539116 RCV001355968

NM_000535.7(PMS2):c.1586C>T (p.Ser529Leu)

SNV
Germline

Chr7:5987179

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA10578672

rs_876658794

6 SubmittersRCV000217760 RCV000471239 RCV000486303 RCV003997860 RCV004567535

NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn)

SNV
Germline

Chr7:5987189

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578673

rs_63750686

7 SubmittersRCV000217885 RCV000480867 RCV000630090 RCV000765956 RCV002271472 RCV003998027

NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys)

SNV
Germline

Chr7:5987300

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 4
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10578675

rs_876660060

7 SubmittersRCV000221906 RCV000629950 RCV000781759 RCV003462505 RCV003998009 RCV004777631

NM_000535.7(PMS2):c.1439G>C (p.Gly480Ala)

SNV
Germline

Chr7:5987326

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578676

rs_373917897

7 SubmittersRCV000214480 RCV000233535 RCV000485778 RCV001532968 RCV003997862

NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg)

SNV
Germline

Chr7:5987411

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA043129

rs_569947936

6 SubmittersRCV000214914 RCV000460028 RCV000481558 RCV000987831 RCV005361278

NM_000535.7(PMS2):c.1354G>A (p.Gly452Ser)

SNV
Germline

Chr7:5987411

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA043115

rs_569947936

8 SubmittersRCV000221391 RCV000521141 RCV000629994 RCV001731444 RCV003997861 RCV005425826

NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys)

SNV
Germline

Chr7:5987413

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA10578679

rs_876660834

3 SubmittersRCV000218301 RCV000687861 RCV000987832

NM_000535.7(PMS2):c.1116C>T (p.Val372=)

SNV
Germline

Chr7:5989828

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA10578685

rs_876659729

6 SubmittersRCV000218338 RCV000471178 RCV001775691 RCV005420820

NM_000535.7(PMS2):c.993C>T (p.Cys331=)

SNV
Germline/somatic

Chr7:5989951

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Condition: not provided
Breast and/or ovarian cancer
PMS2-related disorder
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA052862

rs_186577215

13 SubmittersRCV000223117 RCV000229543 RCV000613399 RCV000758631 RCV001722189 RCV003491979 RCV003897493 RCV005396717 RCV005425837

NM_000535.7(PMS2):c.851C>G (p.Ser284Ter)

SNV
Germline

Chr7:5995586

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10578694

rs_587782898

4 SubmittersRCV000215676 RCV000227122 RCV000519203 RCV003454653

NM_000535.7(PMS2):c.825A>G (p.Gln275=)

SNV
Germline

Chr7:5995612

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome 4
Gastric cancer
Lynch syndrome
Hereditary nonpolyposis colon cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10578696

rs_876659736

14 SubmittersRCV000219153 RCV000479060 RCV000541550 RCV000763588 RCV001267893 RCV003165571 RCV003997969 RCV004525906 RCV005895045

NM_000535.7(PMS2):c.705G>A (p.Gln235=)

SNV
Germline

Chr7:5999108

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA10578699

rs_876660872

3 SubmittersRCV000222528 RCV001854721 RCV002466474

NM_000535.7(PMS2):c.615G>T (p.Gln205His)

SNV
Germline

Chr7:5999198

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA050625

rs_752499497

8 SubmittersRCV000214892 RCV000468010 RCV001284679 RCV003997922 RCV004567573 RCV005396718

NM_000535.7(PMS2):c.566A>G (p.His189Arg)

SNV
Germline

Chr7:5999247

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578705

rs_876660330

4 SubmittersRCV000220329 RCV000703878 RCV003225045 RCV003998545

NM_000535.7(PMS2):c.555C>T (p.Val185=)

SNV
Germline

Chr7:5999258

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA050341

rs_759078497

6 SubmittersRCV000231061 RCV000223202 RCV001722173 RCV003316196

NM_000535.7(PMS2):c.403C>G (p.Leu135Val)

SNV
Germline

Chr7:6002587

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
not specified
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA10578715

rs_876658423

9 SubmittersRCV000219595 RCV000472073 RCV000985910 RCV001293981 RCV003987454 RCV003997809 RCV003982963

NM_000535.7(PMS2):c.340C>T (p.Leu114Phe)

SNV
Germline

Chr7:6003703

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA049251

rs_757441871

8 SubmittersRCV000214977 RCV000537717 RCV001552609 RCV001800570 RCV003469064 RCV003998023

NM_000535.7(PMS2):c.251-2A>C

SNV
Germline

Chr7:6003794

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Polyp of colon
Condition: not provided
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10578724

rs_587779340

11 SubmittersRCV000219075 RCV000735964 RCV001530037 RCV001249235 RCV001854704 RCV003454656 RCV004806244

NM_000535.7(PMS2):c.164-4C>A

SNV
Germline

Chr7:6004062

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10578727

rs_876658444

6 SubmittersRCV000220376 RCV000630356 RCV001358033 RCV003997813 RCV006456852

NM_000535.7(PMS2):c.142G>A (p.Asp48Asn)

SNV
Germline

Chr7:6005913

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA043487

rs_755665894

8 SubmittersRCV000220384 RCV000549401 RCV000780615 RCV000985901 RCV003998560 RCV004567643

NM_000535.7(PMS2):c.30A>G (p.Glu10=)

SNV
Germline/somatic

Chr7:6006025

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA10578733

rs_876660608

5 SubmittersRCV000215922 RCV000758633 RCV001483904 RCV005420853

NM_000535.7(PMS2):c.2T>G (p.Met1Arg)

SNV
Germline

Chr7:6009018

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10578738

rs_587780059

6 SubmittersRCV000219633 RCV000458145 RCV001782709 RCV003454637

NM_000535.7(PMS2):c.-1C>A

SNV
Germline

Chr7:6009020

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA046177

rs_369681753

5 SubmittersRCV000218387 RCV001569697 RCV003997800

NM_000251.3(MSH2):c.10C>A (p.Gln4Lys)

SNV
Germline

Chr2:47403201

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10581987

rs_878853797

10 SubmittersRCV000227770 RCV000480195 RCV000563870 RCV002465579 RCV003469135 RCV003998750

NM_000251.3(MSH2):c.79C>A (p.Pro27Thr)

SNV
Germline

Chr2:47403270

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10581989

rs_878853826

7 SubmittersRCV000226454 RCV000664273 RCV001658053 RCV002282071 RCV003998766

NM_000251.3(MSH2):c.121G>T (p.Asp41Tyr)

SNV
Germline

Chr2:47403312

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10581991

rs_878853799

5 SubmittersRCV000230826 RCV000575441 RCV003998753 RCV004567715

NM_000251.3(MSH2):c.211+9C>A

SNV
Germline

Chr2:47403411

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA034025

rs_2303426

5 SubmittersRCV000230066 RCV000614752 RCV000580355 RCV005246884 RCV005361390

NM_000251.3(MSH2):c.232G>A (p.Val78Ile)

SNV
Germline

Chr2:47408421

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Lynch syndrome
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA035416

rs_772779997

8 SubmittersRCV000229561 RCV000235910 RCV000491448 RCV003150133 RCV003998761 RCV005238755 RCV005420883

NM_000251.3(MSH2):c.340G>T (p.Glu114Ter)

SNV
Germline

Chr2:47408529

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10581993

rs_878853815

5 SubmittersRCV000228392 RCV001020232 RCV000985808 RCV001034685 RCV003454701

NM_000251.3(MSH2):c.755A>G (p.Gln252Arg)

SNV
Germline

Chr2:47412523

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA040278

rs_370906735

11 SubmittersRCV000230625 RCV000564902 RCV001557291 RCV003463649 RCV003998764 RCV005230134

NM_000251.3(MSH2):c.764G>A (p.Ser255Asn)

SNV
Germline

Chr2:47412532

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA040340

rs_763184168

6 SubmittersRCV000234549 RCV000519279 RCV000766744 RCV001026663 RCV003998765

NM_000251.3(MSH2):c.789T>G (p.Asn263Lys)

SNV
Germline

Chr2:47412557

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582001

rs_878853823

6 SubmittersRCV000231079 RCV001026925 RCV001193895 RCV003128606 RCV004806259

NM_000251.3(MSH2):c.790C>T (p.Gln264Ter)

SNV
Germline

Chr2:47412558

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10582002

rs_878853824

5 SubmittersRCV000235710 RCV000233889 RCV000563208 RCV003454702

NM_000251.3(MSH2):c.843A>T (p.Ser281=)

SNV
Germline

Chr2:47414319

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome
MSH2-related disorder
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA040882

rs_150197753

15 SubmittersRCV000232025 RCV000422592 RCV000573521 RCV000986654 RCV001705241 RCV003998767 RCV004541371 RCV005396746

NM_000251.3(MSH2):c.1077-7A>G

SNV
Germline

Chr2:47429735

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
MSH2-related disorder
Lynch syndrome
Muir-Torré syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA026935

rs_370807334

11 SubmittersRCV000232807 RCV000417988 RCV001705240 RCV002258835 RCV004541370 RCV003998749 RCV005361388 RCV005246879

NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)

SNV
Germline

Chr2:47429795

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027052

rs_776174711

11 SubmittersRCV000229489 RCV000479748 RCV000662583 RCV001017396 RCV001193852 RCV003491996 RCV003998751

NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr)

SNV
Germline

Chr2:47429836

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582008

rs_878853798

10 SubmittersRCV000227304 RCV000566323 RCV000662565 RCV000780444 RCV001589170 RCV003998752

NM_000251.3(MSH2):c.1225C>G (p.Gln409Glu)

SNV
Germline

Chr2:47429890

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10582010

rs_151244108

5 SubmittersRCV001319460 RCV001185296 RCV003469136 RCV004998509

NM_000251.3(MSH2):c.1301C>T (p.Ala434Val)

SNV
Germline

Chr2:47445572

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027829

rs_768070717

7 SubmittersRCV000232170 RCV000589179 RCV000573477 RCV003998754

NM_000251.3(MSH2):c.1378A>G (p.Met460Val)

SNV
Germline

Chr2:47445649

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Breast and/or ovarian cancer
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA028135

rs_575905950

10 SubmittersRCV000225970 RCV000573569 RCV000985795 RCV003338475 RCV003150132 RCV003998755 RCV005361389

NM_000251.3(MSH2):c.1387-5T>C

SNV
Germline

Chr2:47463026

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10582013

rs_757458333

6 SubmittersRCV000229877 RCV000574158 RCV000604134 RCV005246881

NM_000251.3(MSH2):c.1937A>C (p.Asp646Ala)

SNV
Germline

Chr2:47475202

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA032095

rs_41295290

8 SubmittersRCV000228698 RCV000483596 RCV000575069 RCV003463648 RCV003998757

NM_000251.3(MSH2):c.1951A>G (p.Ile651Val)

SNV
Germline

Chr2:47475216

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582019

rs_878853806

4 SubmittersRCV000226382 RCV001013729 RCV003998759

NM_000251.3(MSH2):c.2242G>C (p.Asp748His)

SNV
Germline

Chr2:47478303

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10582023

rs_267608007

4 SubmittersRCV001366376 RCV002417987 RCV003454700

NM_000251.3(MSH2):c.2518G>A (p.Val840Ile)

SNV
Germline

Chr2:47480755

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA10582027

rs_878853812

4 SubmittersRCV000230025 RCV002429093 RCV005246887 RCV006456871

NM_000251.3(MSH2):c.2697G>T (p.Met899Ile)

SNV
Germline

Chr2:47482841

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast carcinoma
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582028

rs_878853813

6 SubmittersRCV000233718 RCV001016339 RCV001262889 RCV003469138 RCV003998762

NM_000251.3(MSH2):c.2699C>G (p.Ser900Ter)

SNV
Germline

Chr2:47482843

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10582029

rs_878853814

3 SubmittersRCV001305492 RCV005025381 RCV005365179

NM_000251.3(MSH2):c.2777T>A (p.Ile926Asn)

SNV
Germline

Chr2:47482921

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA037530

rs_199747712

11 SubmittersRCV000231382 RCV000485086 RCV000565937 RCV000663160 RCV000781561

NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys)

SNV
Germline

Chr2:47482945

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA037620

rs_587779969

11 SubmittersRCV000234169 RCV000235791 RCV000564878 RCV000767184 RCV000662845 RCV001353614

NM_000179.3(MSH6):c.98G>C (p.Arg33Pro)

SNV
Germline

Chr2:47783331

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
MSH6-related disorder
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10582031

rs_878853751

8 SubmittersRCV000230339 RCV000487300 RCV000575454 RCV003463645 RCV004532835 RCV003998735 RCV004591082

NM_000179.3(MSH6):c.117G>A (p.Gly39=)

SNV
Germline

Chr2:47783350

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA067275

rs_756673077

10 SubmittersRCV000232522 RCV000491059 RCV000611965 RCV003998707 RCV005001023 RCV005420868

NM_000179.3(MSH6):c.146C>T (p.Ala49Val)

SNV
Germline

Chr2:47783379

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA067716

rs_775498550

8 SubmittersRCV000233115 RCV000773125 RCV003320618 RCV003998708 RCV004696887 RCV005396740

NM_000179.3(MSH6):c.199C>A (p.Pro67Thr)

SNV
Germline

Chr2:47783432

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA10582034

rs_878853712

6 SubmittersRCV000227237 RCV000567571 RCV001559419 RCV003998713 RCV005396741

NM_000179.3(MSH6):c.251C>T (p.Ala84Val)

SNV
Germline

Chr2:47783484

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Lynch syndrome
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10582035

rs_878853717

9 SubmittersRCV000229669 RCV000491394 RCV001354734 RCV001572461 RCV003998719 RCV006456868 RCV005600851

NM_000179.3(MSH6):c.628-8C>T

SNV
Germline

Chr2:47798603

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA073263

rs_767991179

8 SubmittersRCV000228163 RCV001184776 RCV001357663 RCV001722209 RCV005425877

NM_000179.3(MSH6):c.818G>T (p.Gly273Val)

SNV
Germline

Chr2:47798801

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary cancer
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073459

rs_769610487

12 SubmittersRCV000232347 RCV000561246 RCV000582421 RCV003233509 RCV003491994 RCV003463644 RCV003998733

NM_000179.3(MSH6):c.1167C>T (p.Pro389=)

SNV
Germline

Chr2:47799150

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
MSH6-related disorder
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA1649445

rs_1042819

12 SubmittersRCV000234680 RCV000445727 RCV000759841 RCV001082552 RCV001290648 RCV003998706 RCV004532832 RCV005361378

NM_000179.3(MSH6):c.1524G>C (p.Val508=)

SNV
Germline

Chr2:47799507

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10582051

rs_878853705

8 SubmittersRCV000227913 RCV000569066 RCV000600512 RCV003998709 RCV005001024 RCV005420870

NM_000179.3(MSH6):c.1795G>C (p.Gly599Arg)

SNV
Germline

Chr2:47799778

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068155

rs_756043669

7 SubmittersRCV000228803 RCV000506097 RCV001013122 RCV004567709 RCV004806254

NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg)

SNV
Germline

Chr2:47799920

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068286

rs_201096652

12 SubmittersRCV000229693 RCV000482874 RCV000491214 RCV001192456 RCV001356893 RCV001798729 RCV003469131 RCV003998712

NM_000179.3(MSH6):c.2023G>A (p.Glu675Lys)

SNV
Germline

Chr2:47800006

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582057

rs_878853713

5 SubmittersRCV000231201 RCV000772336 RCV003463637 RCV003998714

NM_000179.3(MSH6):c.2107A>G (p.Met703Val)

SNV
Germline

Chr2:47800090

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome
Hereditary cancer
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA068470

rs_751867550

12 SubmittersRCV000227011 RCV000483631 RCV000580465 RCV000662419 RCV003469132 RCV003998715 RCV004701307 RCV005396742

NM_000179.3(MSH6):c.2315G>A (p.Arg772Gln)

SNV
Germline/somatic

Chr2:47800298

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA068814

rs_63750725

9 SubmittersRCV000234432 RCV000418671 RCV000758668 RCV001015160 RCV004567710 RCV005420872 RCV005361380

NM_000179.3(MSH6):c.2479A>G (p.Asn827Asp)

SNV
Germline

Chr2:47800462

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA10582063

rs_878853716

8 SubmittersRCV000231716 RCV000483224 RCV000490886 RCV000986722 RCV003998718 RCV004567711

NM_000179.3(MSH6):c.2569G>A (p.Asp857Asn)

SNV
Germline

Chr2:47800552

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069199

rs_368437140

4 SubmittersRCV000568833 RCV001297702 RCV003998720

NM_000179.3(MSH6):c.2680C>T (p.Gln894Ter)

SNV
Germline

Chr2:47800663

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10582065

rs_878853718

3 SubmittersRCV000232801 RCV002433946 RCV003454689

NM_000179.3(MSH6):c.2781T>G (p.Ile927Met)

SNV
Germline

Chr2:47800764

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA10582066

rs_771575217

4 SubmittersRCV000234379 RCV000571017 RCV005361381

NM_000179.3(MSH6):c.2830A>G (p.Ile944Val)

SNV
Germline

Chr2:47800813

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Endometrial carcinoma
MSH6-related disorder
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA10582071

rs_878853723

9 SubmittersRCV000231932 RCV000571874 RCV000581651 RCV001589169 RCV003463639 RCV004529388 RCV003998722 RCV005396743

NM_000179.3(MSH6):c.2962C>T (p.Arg988Cys)

SNV
Germline

Chr2:47800945

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Endometrial carcinoma
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA069873

rs_61753795

10 SubmittersRCV000232002 RCV000483401 RCV000571603 RCV002265702 RCV003463641 RCV003998724 RCV005396744

NM_000179.3(MSH6):c.3070C>T (p.Arg1024Trp)

SNV
Germline

Chr2:47801053

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA10582076

rs_370505117

10 SubmittersRCV000227649 RCV000491202 RCV000985838 RCV002494619 RCV003998725 RCV004567712

NM_000179.3(MSH6):c.3205G>A (p.Gly1069Arg)

SNV
Germline

Chr2:47803452

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA10582082

rs_764113705

3 SubmittersRCV001368829 RCV005438882 RCV006633909

NM_000179.3(MSH6):c.3220A>T (p.Met1074Leu)

SNV
Germline

Chr2:47803467

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582083

rs_730881804

9 SubmittersRCV000225977 RCV000480996 RCV000584577 RCV000662750 RCV004567713 RCV004806255

NM_000179.3(MSH6):c.3256C>G (p.Pro1086Ala)

SNV
Germline

Chr2:47803503

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA070509

rs_756108143

7 SubmittersRCV000226723 RCV000482939 RCV000662522 RCV000774607

NM_000179.3(MSH6):c.3350G>T (p.Cys1117Phe)

SNV
Germline

Chr2:47803597

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA070699

rs_773245315

7 SubmittersRCV000230242 RCV000487138 RCV000570386 RCV003998729 RCV005425874

NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter)

SNV
Germline

Chr2:47804948

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Papillary carcinoma of the corpus uteri
Lynch syndrome 5
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10582086

rs_398123231

9 SubmittersRCV000228304 RCV000580568 RCV000657748 RCV000781603 RCV003137833 RCV003454692 RCV004668863

NM_000179.3(MSH6):c.3772C>G (p.Gln1258Glu)

SNV
Germline

Chr2:47806329

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA071996

rs_63750554

10 SubmittersRCV000227470 RCV000479785 RCV000491197 RCV000766490 RCV003998730 RCV005863059 RCV004567714

NM_000179.3(MSH6):c.3988C>T (p.Leu1330=)

SNV
Germline

Chr2:47806638

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA072445

rs_768944975

8 SubmittersRCV000229058 RCV000478567 RCV000574677 RCV004804946 RCV005230132 RCV005425876

NM_000179.3(MSH6):c.4002-2A>G

SNV
Germline

Chr2:47806777

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA10582095

rs_878853745

4 SubmittersRCV000231436 RCV000772337 RCV003454695 RCV005895189

NM_000249.4(MLH1):c.226G>A (p.Val76Ile)

SNV
Germline

Chr3:37000973

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582156

rs_878853788

12 SubmittersRCV000233829 RCV000485354 RCV000568460 RCV000765730 RCV001358259 RCV001798730 RCV001800589 RCV003463647 RCV003998742

NM_000249.4(MLH1):c.318C>T (p.Ser106=)

SNV
Germline

Chr3:37004412

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA10582157

rs_63750297

6 SubmittersRCV000561338 RCV001469190 RCV003998743 RCV005246874 RCV005361385

NM_000249.4(MLH1):c.928A>G (p.Thr310Ala)

SNV
Germline

Chr3:37020353

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA039074

rs_779581111

11 SubmittersRCV000234748 RCV000581030 RCV000759816 RCV000780417 RCV001147025 RCV003998746 RCV005025380

NM_000249.4(MLH1):c.988A>G (p.Ile330Val)

SNV
Germline

Chr3:37020413

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582163

rs_878853796

4 SubmittersRCV000226414 RCV000561417 RCV003998748

NM_000249.4(MLH1):c.1063C>T (p.Pro355Ser)

SNV
Germline

Chr3:37025661

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027044

rs_756347993

7 SubmittersRCV000230159 RCV001009798 RCV001420854 RCV003233510 RCV003463646 RCV003998736

NM_000249.4(MLH1):c.1752C>G (p.Asp584Glu)

SNV
Germline

Chr3:37047539

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582178

rs_878853783

4 SubmittersRCV000230665 RCV000576092 RCV003227725 RCV003998740

NM_000535.7(PMS2):c.2445+1G>C

SNV
Germline

Chr7:5977587

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colon cancer
Malignant tumor of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10582495

rs_876661113

6 SubmittersRCV000234016 RCV001193217 RCV001354824 RCV002291604 RCV002255326 RCV003454706

NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg)

SNV
Germline

Chr7:5986813

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Malignant tumor of breast
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA045953

rs_267608167

12 SubmittersRCV000234457 RCV000569086 RCV000662633 RCV001354896 RCV001762519 RCV001798732 RCV003998790

NM_000535.7(PMS2):c.1454C>T (p.Thr485Met)

SNV
Germline

Chr7:5987311

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA043685

rs_1805323

10 SubmittersRCV000227437 RCV000479471 RCV000570329 RCV002288911 RCV003998786 RCV005434726

NM_000535.7(PMS2):c.1233A>C (p.Glu411Asp)

SNV
Germline

Chr7:5987532

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582513

rs_587780040

6 SubmittersRCV000227364 RCV000567547 RCV000759913 RCV003463655 RCV004806260

NM_000535.7(PMS2):c.1145-10G>A

SNV
Germline

Chr7:5987630

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA042176

rs_533551639

10 SubmittersRCV000229136 RCV000426484 RCV000580673 RCV001354104 RCV003150134 RCV005420885

NM_000535.7(PMS2):c.1099G>A (p.Val367Ile)

SNV
Germline

Chr7:5989845

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA041931

rs_746889239

8 SubmittersRCV000226146 RCV000481764 RCV000569779 RCV001162267 RCV003479070 RCV003998785

NM_000535.7(PMS2):c.917T>A (p.Val306Glu)

SNV
Germline

Chr7:5992044

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10582517

rs_786201878

6 SubmittersRCV000232471 RCV000565783 RCV000853300 RCV001174830 RCV001284035

NM_000535.7(PMS2):c.903+2T>C

SNV
Germline

Chr7:5995532

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10582518

rs_878854059

5 SubmittersRCV000230352 RCV002372260 RCV003454707 RCV005051767

NM_000535.7(PMS2):c.903G>A (p.Lys301=)

SNV
Germline

Chr7:5995534

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA052331

rs_267608153

7 SubmittersRCV000228489 RCV000573516 RCV000614513 RCV001762520 RCV003454708 RCV005238758

NM_000535.7(PMS2):c.663C>T (p.Pro221=)

SNV
Germline

Chr7:5999150

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10582521

rs_878854057

3 SubmittersRCV001413885 RCV005420894 RCV005396751

NM_000535.7(PMS2):c.662C>T (p.Pro221Leu)

SNV
Germline

Chr7:5999151

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582522

rs_878854056

5 SubmittersRCV000226233 RCV000772142 RCV001535628 RCV003998795

NM_000535.7(PMS2):c.386C>T (p.Ala129Val)

SNV
Germline

Chr7:6002604

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA049693

rs_752284380

9 SubmittersRCV000233053 RCV000566584 RCV000662749 RCV002503891 RCV003998793 RCV005625464

NM_000535.7(PMS2):c.353+6A>G

SNV
Germline

Chr7:6003684

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Breast and/or ovarian cancer
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA049404

rs_376449640

15 SubmittersRCV000226224 RCV000507750 RCV000586664 RCV000663107 RCV000581327 RCV001535734 RCV001798733 RCV003998791 RCV005361392

NM_000535.7(PMS2):c.88C>A (p.Gln30Lys)

SNV
Germline

Chr7:6005967

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
PMS2-related disorder
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA052131

rs_141577476

9 SubmittersRCV000227509 RCV001018478 RCV001550352 RCV003998797 RCV004742343 RCV004567719

NM_000535.7(PMS2):c.24-3T>C

SNV
Germline

Chr7:6006034

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA048185

rs_749485884

6 SubmittersRCV000228314 RCV000828153 RCV000775371 RCV005420891

NM_000251.3(MSH2):c.-29C>T

SNV
Germline

Chr2:47403163

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA037768

rs_199841800

4 SubmittersRCV000236543 RCV000329204 RCV002057247

NM_000251.3(MSH2):c.38G>A (p.Ser13Asn)

SNV
Germline

Chr2:47403229

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10584201

rs_63749907

6 SubmittersRCV000235367 RCV000572196 RCV000688689 RCV003463696

NM_000251.3(MSH2):c.185G>C (p.Gly62Ala)

SNV
Germline

Chr2:47403376

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10584202

rs_879254195

4 SubmittersRCV000236172 RCV000630120 RCV003298310 RCV004567781

NM_000251.3(MSH2):c.294T>A (p.Tyr98Ter)

SNV
Germline

Chr2:47408483

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10584204

rs_763872353

5 SubmittersRCV000235827 RCV001854868 RCV003454719 RCV005238781

NM_000251.3(MSH2):c.335C>T (p.Ser112Phe)

SNV
Germline

Chr2:47408524

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10584205

rs_769215192

4 SubmittersRCV000235804 RCV001020082 RCV001211169 RCV004567776

NM_000251.3(MSH2):c.366+1G>A

SNV
Germline/somatic

Chr2:47408556

Pathogenic/Likely pathogenic

Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10584207

rs_267607924

7 SubmittersRCV000236788 RCV000471120 RCV000791394 RCV001020825 RCV001526857 RCV003454715

NM_000251.3(MSH2):c.565G>A (p.Ala189Thr)

SNV
Germline

Chr2:47410292

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039268

rs_63750821

5 SubmittersRCV000236727 RCV000691636 RCV001024381 RCV003998897

NM_000251.3(MSH2):c.646-11T>C

SNV
Germline

Chr2:47412403

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10584208

rs_879254124

5 SubmittersRCV000236134 RCV000657090 RCV000771391 RCV002057254 RCV005246911

NM_000251.3(MSH2):c.751G>A (p.Glu251Lys)

SNV
Germline

Chr2:47412519

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA040269

rs_147389443

6 SubmittersRCV000236679 RCV000562875 RCV001040201 RCV003463701 RCV006263796

NM_000251.3(MSH2):c.817G>A (p.Val273Ile)

SNV
Germline

Chr2:47414293

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA040766

rs_530814648

7 SubmittersRCV000236426 RCV000458697 RCV000564711 RCV001356679 RCV003998919 RCV004596150

NM_000251.3(MSH2):c.891C>G (p.Ser297Arg)

SNV
Germline

Chr2:47414367

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10584210

rs_551236465

7 SubmittersRCV000236690 RCV000456430 RCV000563882 RCV003463695 RCV004806269

NM_000251.3(MSH2):c.897T>G (p.Tyr299Ter)

SNV
Germline

Chr2:47414373

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10584211

rs_879254104

4 SubmittersRCV000236542 RCV001056344 RCV002444936 RCV003454717

NM_000251.3(MSH2):c.1077-18C>G

SNV
Germline

Chr2:47429724

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA026894

rs_746526239

4 SubmittersRCV000235939 RCV000776437 RCV002057262 RCV005425906

NM_000251.3(MSH2):c.1276G>A (p.Gly426Arg)

SNV
Germline

Chr2:47429941

Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10584213

rs_879254234

4 SubmittersRCV000236876 RCV001061266 RCV003454720 RCV004943823

NM_000251.3(MSH2):c.1474A>T (p.Met492Leu)

SNV
Germline

Chr2:47463118

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA028758

rs_774419666

5 SubmittersRCV000236460 RCV001047851 RCV003165662 RCV003998929

NM_000251.3(MSH2):c.1562A>T (p.Tyr521Phe)

SNV
Germline

Chr2:47466709

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10584215

rs_879254040

3 SubmittersRCV000235347 RCV000566599 RCV004806270

NM_000251.3(MSH2):c.2009C>A (p.Pro670His)

SNV
Germline

Chr2:47476370

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA10584219

rs_41294982

5 SubmittersRCV000235402 RCV000561699 RCV000708838 RCV001854866

NM_000251.3(MSH2):c.2224G>A (p.Asp742Asn)

SNV
Germline

Chr2:47478285

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA10584222

rs_879254183

8 SubmittersRCV000236064 RCV000556812 RCV000564620 RCV003469187 RCV003998917 RCV005365200

NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro)

SNV
Germline

Chr2:47478423

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA035470

rs_774440277

12 SubmittersRCV000456146 RCV000569234 RCV000585967 RCV001526856 RCV003469179

NM_000251.3(MSH2):c.2650A>T (p.Ile884Phe)

SNV
Germline

Chr2:47482794

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA037220

rs_774732579

7 SubmittersRCV000236021 RCV000566067 RCV000804993 RCV003463704 RCV004535200 RCV004806271

NM_000251.3(MSH2):c.212-3A>T

SNV
Germline

Chr2:47408398

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA10585969

rs_879255341

7 SubmittersRCV000238998 RCV000562339 RCV000702288 RCV000840443 RCV004541470

NM_000179.3(MSH6):c.3992G>T (p.Arg1331Leu)

SNV
Germline

Chr2:47806642

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA072455

rs_184131049

4 SubmittersRCV000239122 RCV001021599 RCV001046197 RCV003463708

NM_000251.3(MSH2):c.1204C>G (p.Gln402Glu)

SNV
Germline

Chr2:47429869

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10588342

rs_63751412

8 SubmittersRCV000255442 RCV000704303 RCV001010317 RCV002248492 RCV003995743 RCV004567809

NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg)

SNV
Germline

Chr2:47475130

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10588344

rs_28929483

5 SubmittersRCV000256112 RCV000629692 RCV000491622 RCV003454782

NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu)

SNV
Germline/somatic

Chr2:47476436

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA10588345

rs_63751432

6 SubmittersRCV000255143 RCV000501019 RCV000772137 RCV000803818 RCV001353568

NM_000251.3(MSH2):c.2463C>T (p.Val821=)

SNV
Germline

Chr2:47480700

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA10613578

rs_886056136

5 SubmittersRCV000345749 RCV000581774 RCV002057703

NM_000179.3(MSH6):c.339C>T (p.His113=)

SNV
Germline

Chr2:47791005

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA10613588

rs_886056141

9 SubmittersRCV000381615 RCV000573597 RCV000588746 RCV000855622 RCV001085785 RCV001357083 RCV003150166

NM_000179.3(MSH6):c.2562G>T (p.Lys854Asn)

SNV
Germline

Chr2:47800545

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA069186

rs_759048538

6 SubmittersRCV000276074 RCV000630372 RCV002256216 RCV003463784

NM_000179.3(MSH6):c.1267C>A (p.Leu423Ile)

SNV
Germline

Chr2:47799250

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10615505

rs_587781657

6 SubmittersRCV000300787 RCV000688085 RCV000564277 RCV001571224 RCV003995876

NM_000251.2(MSH2):c.-43G>C

SNV
Germline

Chr2:47403149

Conflicting classifications of pathogenicity

Lynch syndrome 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA038763

rs_781492698

3 SubmittersRCV000271860 RCV000482775 RCV006273704

NM_000251.3(MSH2):c.335C>G (p.Ser112Cys)

SNV
Germline

Chr2:47408524

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA037917

rs_769215192

3 SubmittersRCV000389495 RCV002323544 RCV003758755

NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys)

SNV
Germline

Chr7:5986847

Conflicting classifications of pathogenicity

Lynch syndrome 4
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10629440

rs_886062400

8 SubmittersRCV000278327 RCV000482265 RCV000543398 RCV000562926 RCV001093664 RCV005355681

NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile)

SNV
Germline

Chr14:75041640

Conflicting classifications of pathogenicity

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 7
Condition: not provided
not specified
MLH3-related disorder
Endometrial carcinoma
Colorectal cancer, hereditary nonpolyposis, type 7
Colorectal cancer
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA7275497

rs_142124529

10 SubmittersRCV000269033 RCV001094469 RCV002261047 RCV003321583 RCV004751455 RCV005396946 RCV004701405

NM_000251.3(MSH2):c.806C>A (p.Ser269Ter)

SNV
Germline

Chr2:47414282

Pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16042056

rs_63750058

4 SubmittersRCV000411532 RCV001861407 RCV002418232

NM_000251.3(MSH2):c.1510+11G>C

SNV
Germline

Chr2:47463165

Conflicting classifications of pathogenicity

Lynch syndrome 1
not specified
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Conflicting Classifications

CA029000

rs_370675562

6 SubmittersRCV000410661 RCV000442358 RCV000579684 RCV001356660 RCV002058850 RCV003237837

NM_000251.3(MSH2):c.1760-16T>G

SNV
Germline

Chr2:47475009

Conflicting classifications of pathogenicity

Lynch syndrome 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA030937

rs_768370188

6 SubmittersRCV000409284 RCV000424699 RCV000774574 RCV002058848

NM_000179.3(MSH6):c.-6G>C

SNV
Germline

Chr2:47783228

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
not specified
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA073358

rs_730881822

7 SubmittersRCV000409841 RCV000583102 RCV001355925 RCV001584107 RCV002509378 RCV004739712

NM_000179.3(MSH6):c.941G>A (p.Ser314Asn)

SNV
Germline

Chr2:47798924

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA073598

rs_760100983

5 SubmittersRCV000410264 RCV000576046 RCV001361344

NM_000179.3(MSH6):c.3173-12C>T

SNV
Germline

Chr2:47803408

Conflicting classifications of pathogenicity

Lynch syndrome 5
not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16042060

rs_1057517629

7 SubmittersRCV000409332 RCV000616287 RCV000583965 RCV002058852 RCV005355698

NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)

SNV
Germline

Chr3:37025817

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16042072

rs_1057517541

13 SubmittersRCV000411311 RCV000486818 RCV000684819 RCV001183269 RCV001731666 RCV003995908

NM_000179.3(MSH6):c.3449T>A (p.Leu1150Ter)

SNV
Germline

Chr2:47804920

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16042488

rs_1057517763

6 SubmittersRCV000413022 RCV000527691 RCV000575337 RCV003449031 RCV003470357

NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)

SNV
Germline

Chr3:30672198

Conflicting classifications of pathogenicity

Lynch syndrome
Loeys-Dietz syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection
Malignant tumor of esophagus
Colorectal cancer, hereditary nonpolyposis, type 6
Loeys-Dietz syndrome 2
Condition: not provided
TGFBR2-related disorder

Criteria Provided
Conflicting Classifications

CA045395

rs_761991787

10 SubmittersRCV000415648 RCV000415679 RCV000781901 RCV000809777 RCV000765723 RCV001310482 RCV003902462

NM_000251.3(MSH2):c.2277A>G (p.Gly759=)

SNV
Germline

Chr2:47478338

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16604163

rs_1057520316

6 SubmittersRCV000427595 RCV000467973 RCV000570352 RCV003995967 RCV005246939

NM_000179.3(MSH6):c.-12C>G

SNV
Germline

Chr2:47783222

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA067463

rs_766407370

6 SubmittersRCV000443454 RCV000580863 RCV003996067 RCV005355733

NM_000179.3(MSH6):c.3015A>G (p.Arg1005=)

SNV
Germline

Chr2:47800998

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16604192

rs_990650403

9 SubmittersRCV000425690 RCV000466030 RCV000574172 RCV001721359 RCV004000498 RCV005421777

NM_000251.3(MSH2):c.943-5A>T

SNV
Germline

Chr2:47416291

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16604233

rs_1057521671

4 SubmittersRCV000429206 RCV002521643 RCV003362782 RCV005246973

NM_000251.3(MSH2):c.1294T>C (p.Leu432=)

SNV
Germline

Chr2:47445565

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16604243

rs_937218360

6 SubmittersRCV000440489 RCV000536595 RCV002379343 RCV005246983

NM_000251.3(MSH2):c.6G>C (p.Ala2=)

SNV
Germline

Chr2:47403197

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA040101

rs_368270856

12 SubmittersRCV000435277 RCV000474559 RCV000566649 RCV001171948 RCV003996035 RCV004530564 RCV005246950

NM_000251.3(MSH2):c.2459-12A>C

SNV
Germline

Chr2:47480684

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA035982

rs_267608012

5 SubmittersRCV001181938 RCV001721391 RCV002063486 RCV005247010

NM_000251.3(MSH2):c.669G>A (p.Leu223=)

SNV
Germline

Chr2:47412437

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA039993

rs_751195930

6 SubmittersRCV000553928 RCV000564734 RCV001139362 RCV001712362

NM_000179.3(MSH6):c.216C>G (p.Leu72=)

SNV
Germline

Chr2:47783449

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16604264

rs_963404377

5 SubmittersRCV000869324 RCV001487495 RCV001821184 RCV002418292 RCV005425976

NM_000251.3(MSH2):c.2458+4T>C

SNV
Germline

Chr2:47478523

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16604275

rs_1038735071

6 SubmittersRCV000431124 RCV000574853 RCV000630059 RCV001712259 RCV004000450

NM_000179.3(MSH6):c.856G>T (p.Glu286Ter)

SNV
Germline

Chr2:47798839

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16604278

rs_1057520605

5 SubmittersRCV000441289 RCV002411309 RCV002521554 RCV003463828 RCV003449054

NM_000179.3(MSH6):c.260+7G>A

SNV
Germline

Chr2:47783500

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA069290

rs_774479750

7 SubmittersRCV000438252 RCV000582801 RCV000679227 RCV001081272 RCV005420977

NM_000179.3(MSH6):c.1200G>A (p.Glu400=)

SNV
Germline

Chr2:47799183

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Malignant tumor of esophagus
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Gastric cancer

Criteria Provided
Conflicting Classifications

CA067322

rs_536884553

9 SubmittersRCV000458705 RCV000491492 RCV001704351 RCV004000461 RCV005898029 RCV005421763 RCV005398550 RCV005898030

NM_000251.3(MSH2):c.1761C>G (p.Gly587=)

SNV
Germline

Chr2:47475026

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16604543

rs_920449426

6 SubmittersRCV000424515 RCV000557995 RCV001013070 RCV003996064 RCV005246958

NM_000251.3(MSH2):c.2027C>G (p.Ser676Ter)

SNV
Germline

Chr2:47476388

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16604545

rs_1057520735

5 SubmittersRCV000438851 RCV001037819 RCV002418262 RCV003449056

NM_000249.4(MLH1):c.1872C>T (p.Asp624=)

SNV
Germline

Chr3:37047659

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA031127

rs_145535636

9 SubmittersRCV000430377 RCV000476999 RCV000572236 RCV001498345 RCV004000532 RCV005247014

NM_000179.3(MSH6):c.-1T>C

SNV
Germline

Chr2:47783233

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16604564

rs_1057522403

5 SubmittersRCV000431505 RCV001013988 RCV004000443 RCV005869423

NM_000179.3(MSH6):c.457+7G>C

SNV
Germline

Chr2:47791130

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA072976

rs_781280171

7 SubmittersRCV000425768 RCV000467549 RCV000580489 RCV003477916 RCV005420976

NM_000179.3(MSH6):c.2101T>C (p.Leu701=)

SNV
Germline

Chr2:47800084

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16604586

rs_1057523503

5 SubmittersRCV000426042 RCV000537085 RCV000572634 RCV002480318 RCV005426004

NM_000535.7(PMS2):c.2217G>A (p.Leu739=)

SNV
Germline

Chr7:5978654

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16605114

rs_752718686

5 SubmittersRCV000427777 RCV000558212 RCV001014779 RCV005425965

NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter)

SNV
Germline

Chr7:5982858

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16605116

rs_1057524433

4 SubmittersRCV000428147 RCV000535164 RCV002429459 RCV003449097

NM_000535.7(PMS2):c.353+3G>A

SNV
Germline

Chr7:6003687

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA049358

rs_766373982

8 SubmittersRCV000425644 RCV001211500 RCV002258890 RCV004000433 RCV004999400 RCV005421750

NM_000535.7(PMS2):c.23+7G>C

SNV
Germline

Chr7:6008990

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
PMS2-related disorder
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16605258

rs_878854047

8 SubmittersRCV000423172 RCV000759200 RCV000775888 RCV001088041 RCV003897873 RCV005355741 RCV005421000

NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)

SNV
Germline

Chr7:5987389

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16605348

rs_587780724

7 SubmittersRCV000439409 RCV000629760 RCV000985175 RCV001011228 RCV003449099

NM_000535.7(PMS2):c.321G>T (p.Arg107=)

SNV
Germline

Chr7:6003722

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA049170

rs_756420858

6 SubmittersRCV000423093 RCV000560164 RCV002446689 RCV005398538 RCV005425971

NM_000251.3(MSH2):c.2078G>A (p.Cys693Tyr)

SNV
Germline

Chr2:47476439

Likely pathogenic

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16609274

rs_1057524909

3 SubmittersRCV000445396 RCV001014350 RCV003449101

NM_000251.3(MSH2):c.174C>G (p.Phe58Leu)

SNV
Germline

Chr2:47403365

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA030766

rs_372189599

11 SubmittersRCV000470314 RCV000491232 RCV003153620 RCV003329284 RCV004806312

NM_000251.3(MSH2):c.434T>C (p.Ile145Thr)

SNV
Germline

Chr2:47410161

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA038704

rs_774132884

7 SubmittersRCV000472699 RCV000572837 RCV001764409 RCV003226296 RCV004000783 RCV005247033

NM_000251.3(MSH2):c.589A>C (p.Lys197Gln)

SNV
Germline

Chr2:47410316

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA039407

rs_778573140

6 SubmittersRCV000458204 RCV000566582 RCV000780450 RCV004000796 RCV004022695

NM_000251.3(MSH2):c.48G>C (p.Glu16Asp)

SNV
Germline

Chr2:47403239

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16610768

rs_1060502036

4 SubmittersRCV000469251 RCV000581112 RCV004568020

NM_000251.3(MSH2):c.727C>T (p.Arg243Trp)

SNV
Germline

Chr2:47412495

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA040214

rs_138857091

10 SubmittersRCV000466771 RCV000570120 RCV001591088 RCV001821275 RCV003463904 RCV004000774

NM_000251.3(MSH2):c.247A>G (p.Met83Val)

SNV
Germline

Chr2:47408436

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16610775

rs_766196837

7 SubmittersRCV000460763 RCV000523794 RCV000575381 RCV004000791 RCV004568019

NM_000251.3(MSH2):c.350G>A (p.Trp117Ter)

SNV
Germline

Chr2:47408539

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16610782

rs_786202083

5 SubmittersRCV000473438 RCV000494274 RCV003449132 RCV005672373

NM_000251.3(MSH2):c.1193C>T (p.Ala398Val)

SNV
Germline

Chr2:47429858

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16610785

rs_1060502019

6 SubmittersRCV000458164 RCV001143790 RCV003129864 RCV004022694

NM_000251.3(MSH2):c.668T>C (p.Leu223Pro)

SNV
Germline

Chr2:47412436

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA16610792

rs_1060501992

7 SubmittersRCV000473169 RCV000571885 RCV001526843 RCV004000772 RCV005600929 RCV005398618

NM_000251.3(MSH2):c.715C>G (p.Gln239Glu)

SNV
Germline

Chr2:47412483

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610793

rs_63750488

7 SubmittersRCV000456715 RCV001026093 RCV001843521 RCV002291632 RCV004000794

NM_000251.3(MSH2):c.1327C>A (p.Leu443Ile)

SNV
Germline

Chr2:47445598

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610794

rs_876659906

6 SubmittersRCV000471535 RCV000567703 RCV000986668 RCV004999454

NM_000251.3(MSH2):c.759G>A (p.Met253Ile)

SNV
Germline

Chr2:47412527

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610795

rs_1060502021

9 SubmittersRCV000467943 RCV000568397 RCV001171949 RCV003335335 RCV004000790

NM_000251.3(MSH2):c.1243C>T (p.Pro415Ser)

SNV
Germline

Chr2:47429908

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610806

rs_35717997

6 SubmittersRCV000473948 RCV000774562 RCV000780437 RCV004000786 RCV006259953

NM_000251.3(MSH2):c.1397A>G (p.His466Arg)

SNV
Germline

Chr2:47463041

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 1
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA028501

rs_544265737

8 SubmittersRCV000463668 RCV000561959 RCV001753886 RCV004000788 RCV004568018 RCV004808722

NM_000251.3(MSH2):c.1478A>T (p.Gln493Leu)

SNV
Germline

Chr2:47463122

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA028775

rs_376990143

6 SubmittersRCV000458047 RCV000573378 RCV003463907 RCV004806308

NM_000251.3(MSH2):c.1595T>C (p.Val532Ala)

SNV
Germline

Chr2:47466742

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA029661

rs_754778750

5 SubmittersRCV000572859 RCV000791418 RCV004701501 RCV004806313

NM_000251.3(MSH2):c.1861C>G (p.Arg621Gly)

SNV
Germline

Chr2:47475126

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA031770

rs_63750508

5 SubmittersRCV000465743 RCV000483159 RCV000561447 RCV003449133 RCV005239027

NM_000251.3(MSH2):c.2281G>A (p.Gly761Arg)

SNV
Germline

Chr2:47478342

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16610823

rs_1060502038

3 SubmittersRCV000456782 RCV002446814 RCV003449137

NM_000251.3(MSH2):c.2161G>T (p.Gly721Ter)

SNV
Germline

Chr2:47476522

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16610828

rs_1060502032

3 SubmittersRCV000460606 RCV002418384 RCV003449135

NM_000251.3(MSH2):c.2164G>T (p.Val722Phe)

SNV
Germline

Chr2:47476525

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610829

rs_587781996

9 SubmittersRCV000459526 RCV000575773 RCV000662733 RCV001269187 RCV001810952

NM_000179.3(MSH6):c.104C>T (p.Ala35Val)

SNV
Germline

Chr2:47783337

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Endometrial carcinoma
Lynch syndrome 5
not specified
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA067076

rs_776547943

8 SubmittersRCV000461408 RCV000480657 RCV000573037 RCV000765675 RCV001192488 RCV003463931 RCV005027528

NM_000179.3(MSH6):c.115G>C (p.Gly39Arg)

SNV
Germline

Chr2:47783348

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA067226

rs_751838296

9 SubmittersRCV000459919 RCV000481267 RCV000567789 RCV000663030 RCV001721501 RCV005398629

NM_000179.3(MSH6):c.188C>G (p.Ser63Cys)

SNV
Germline

Chr2:47783421

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
not specified

Criteria Provided
Conflicting Classifications

CA16610836

rs_587779920

8 SubmittersRCV000459237 RCV000572922 RCV000761153 RCV003463930 RCV003335336 RCV006452656

NM_000251.3(MSH2):c.85A>T (p.Lys29Ter)

SNV
Germline

Chr2:47403276

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16610843

rs_1060502001

4 SubmittersRCV000467909 RCV004017628 RCV004022693 RCV005600930

NM_000251.3(MSH2):c.2572G>A (p.Gly858Arg)

SNV
Germline

Chr2:47480809

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA036678

rs_754533481

7 SubmittersRCV000462770 RCV000491706 RCV001356868 RCV004806314 RCV005421801

NM_000251.3(MSH2):c.2594T>C (p.Ile865Thr)

SNV
Germline

Chr2:47480831

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA036766

rs_549759248

5 SubmittersRCV000460192 RCV000580161 RCV003317217 RCV004000789

NM_000251.3(MSH2):c.149C>G (p.Ala50Gly)

SNV
Germline

Chr2:47403340

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610845

rs_876658582

9 SubmittersRCV000470501 RCV000561205 RCV000662999 RCV001284007 RCV004000777

NM_000251.3(MSH2):c.326A>G (p.Asn109Ser)

SNV
Germline

Chr2:47408515

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA037887

rs_749545338

5 SubmittersRCV000465504 RCV000774555 RCV003129863 RCV004000782

NM_000251.3(MSH2):c.793-10T>G

SNV
Germline

Chr2:47414259

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA16610848

rs_1060502016

4 SubmittersRCV000464809 RCV001525043 RCV003225726 RCV003492058

NM_000251.3(MSH2):c.830T>A (p.Leu277Ter)

SNV
Germline

Chr2:47414306

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16610850

rs_786203424

4 SubmittersRCV000475241 RCV000771344 RCV003449131

NM_000251.3(MSH2):c.2693A>C (p.Glu898Ala)

SNV
Germline

Chr2:47482837

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610851

rs_1060502037

8 SubmittersRCV000470535 RCV000569475 RCV001560001 RCV001844163 RCV003470452 RCV004000795

NM_000179.3(MSH6):c.432C>T (p.Ser144=)

SNV
Germline

Chr2:47791098

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16610852

rs_1046304919

8 SubmittersRCV000491454 RCV000521132 RCV001082030 RCV001355486 RCV004002173 RCV005421864

NM_000251.3(MSH2):c.943-1G>T

SNV
Germline

Chr2:47416295

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Lynch syndrome
Papillary renal cell carcinoma type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16610853

rs_12476364

10 SubmittersRCV000468897 RCV000491423 RCV000985819 RCV001194032 RCV003449129 RCV004000776 RCV005899475

NM_000179.3(MSH6):c.457G>A (p.Gly153Ser)

SNV
Germline

Chr2:47791123

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16610857

rs_1060502885

4 SubmittersRCV002230105 RCV001355892 RCV002339174 RCV004787735

NM_000179.3(MSH6):c.457+3A>G

SNV
Germline

Chr2:47791126

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610858

rs_1060502921

6 SubmittersRCV000469871 RCV000780463 RCV001022718 RCV004001839

NM_000251.3(MSH2):c.982G>A (p.Ala328Thr)

SNV
Germline

Chr2:47416335

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610859

rs_753237286

8 SubmittersRCV000457800 RCV000575104 RCV000663211 RCV000852299 RCV001584155

NM_000179.3(MSH6):c.491A>T (p.His164Leu)

SNV
Germline

Chr2:47795927

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073064

rs_146469162

5 SubmittersRCV000468439 RCV001023262 RCV001551754 RCV004001843

NM_000251.3(MSH2):c.1175A>T (p.Lys392Met)

SNV
Germline

Chr2:47429840

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA027158

rs_61756465

7 SubmittersRCV000473029 RCV001535616 RCV002329043 RCV003463908 RCV005239028 RCV006272385

NM_000179.3(MSH6):c.743G>C (p.Arg248Pro)

SNV
Germline

Chr2:47798726

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073426

rs_764870249

9 SubmittersRCV000476123 RCV000562563 RCV000587170 RCV001824790 RCV003463941 RCV004001853

NM_000251.3(MSH2):c.1361T>C (p.Ile454Thr)

SNV
Germline

Chr2:47445632

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610869

rs_1060502025

7 SubmittersRCV000467391 RCV000491177 RCV001764410 RCV003463909 RCV004000792

NM_000179.3(MSH6):c.869T>C (p.Leu290Pro)

SNV
Germline

Chr2:47798852

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA073528

rs_751309721

9 SubmittersRCV000473462 RCV000568053 RCV000985853 RCV001821283 RCV004001830 RCV005426020

NM_000179.3(MSH6):c.185G>A (p.Arg62His)

SNV
Germline

Chr2:47783418

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16610871

rs_867979237

3 SubmittersRCV000464449 RCV002411491 RCV005421804

NM_000251.3(MSH2):c.1469A>G (p.Lys490Arg)

SNV
Germline

Chr2:47463113

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610872

rs_1060502008

3 SubmittersRCV002230362 RCV002393116 RCV004000780

NM_000179.3(MSH6):c.1037C>G (p.Ser346Cys)

SNV
Germline

Chr2:47799020

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610875

rs_567785169

6 SubmittersRCV000459417 RCV000479642 RCV000562409 RCV001357378 RCV004806328

NM_000251.3(MSH2):c.1487T>C (p.Leu496Ser)

SNV
Germline

Chr2:47463131

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16610877

rs_587779093

3 SubmittersRCV000458190 RCV000570881 RCV003470448

NM_000179.3(MSH6):c.1211A>G (p.Asn404Ser)

SNV
Germline

Chr2:47799194

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
MSH6-related disorder
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA067350

rs_768740986

8 SubmittersRCV000460255 RCV000520334 RCV000567415 RCV004000828 RCV004740239 RCV005421803

NM_000179.3(MSH6):c.263G>A (p.Cys88Tyr)

SNV
Germline

Chr2:47790929

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Endometrial carcinoma
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610881

rs_1060502911

9 SubmittersRCV000458426 RCV000581037 RCV002307505 RCV003470464 RCV004001835 RCV004760514

NM_000251.3(MSH2):c.1760-4A>G

SNV
Germline

Chr2:47475021

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610885

rs_1060504409

6 SubmittersRCV000575107 RCV001498789 RCV004596218 RCV005247082 RCV006260025

NM_000251.3(MSH2):c.2122A>G (p.Ile708Val)

SNV
Germline

Chr2:47476483

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA034231

rs_750084297

6 SubmittersRCV000469918 RCV000481613 RCV000491178 RCV004000781 RCV004533186

NM_000179.3(MSH6):c.1538T>C (p.Ile513Thr)

SNV
Germline

Chr2:47799521

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610891

rs_1060502908

7 SubmittersRCV000456298 RCV000484466 RCV000567923 RCV002480420 RCV004568050 RCV004806322

NM_000251.3(MSH2):c.2320A>G (p.Ile774Val)

SNV
Germline

Chr2:47478381

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Gastric cancer
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16610892

rs_775464903

7 SubmittersRCV000468999 RCV000492021 RCV001270006 RCV003168800 RCV003463906 RCV004000779

NM_000179.3(MSH6):c.1805C>A (p.Ser602Ter)

SNV
Germline

Chr2:47799788

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16610899

rs_730881816

4 SubmittersRCV001192458 RCV002230410 RCV003449147 RCV003139659

NM_000179.3(MSH6):c.1480G>T (p.Ala494Ser)

SNV
Germline

Chr2:47799463

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA067740

rs_758699749

6 SubmittersRCV000776440 RCV002230121 RCV002508935 RCV003446065 RCV005632411

NM_000179.3(MSH6):c.90A>G (p.Glu30=)

SNV
Germline

Chr2:47783323

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
not specified

Criteria Provided
Conflicting Classifications

CA16610911

rs_1060504760

6 SubmittersRCV000572127 RCV001430916 RCV004999509 RCV005421856 RCV006452667

NM_000179.3(MSH6):c.2603T>C (p.Met868Thr)

SNV
Germline

Chr2:47800586

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069266

rs_780280765

6 SubmittersRCV000464988 RCV000771517 RCV001798840 RCV002289613 RCV004000830

NM_000179.3(MSH6):c.2735G>A (p.Trp912Ter)

SNV
Germline

Chr2:47800718

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16610918

rs_1060502876

5 SubmittersRCV000470184 RCV000771632 RCV000985836 RCV003449140

NM_000179.3(MSH6):c.2818G>T (p.Ala940Ser)

SNV
Germline

Chr2:47800801

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome
not specified
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA069657

rs_772978164

7 SubmittersRCV000460082 RCV000580547 RCV003463940 RCV004001849 RCV004525934 RCV005398631

NM_000179.3(MSH6):c.2241G>C (p.Leu747=)

SNV
Germline

Chr2:47800224

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16610923

rs_377722465

5 SubmittersRCV000479314 RCV000574064 RCV001080859 RCV005421836

NM_000179.3(MSH6):c.3647-7T>G

SNV
Germline

Chr2:47806197

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071773

rs_780269667

5 SubmittersRCV000464236 RCV000774611 RCV001192491 RCV004002154

NM_000179.3(MSH6):c.1117C>T (p.Leu373Phe)

SNV
Germline

Chr2:47799100

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610943

rs_1060502915

6 SubmittersRCV000457279 RCV000567073 RCV003223642 RCV004001836

NM_000179.3(MSH6):c.3685A>C (p.Asn1229His)

SNV
Germline

Chr2:47806242

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071840

rs_774249402

5 SubmittersRCV000457639 RCV000564311 RCV003463937 RCV005355857

NM_000179.3(MSH6):c.2910G>C (p.Trp970Cys)

SNV
Germline

Chr2:47800893

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA069814

rs_765411990

6 SubmittersRCV001016938 RCV003153635 RCV004001854 RCV004696917 RCV005398632

NM_000179.3(MSH6):c.1132A>C (p.Arg378=)

SNV
Germline

Chr2:47799115

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA067192

rs_781572949

9 SubmittersRCV000485270 RCV000568836 RCV001087055 RCV001290548 RCV004002159 RCV005421839

NM_000179.3(MSH6):c.3801+6T>C

SNV
Germline

Chr2:47806364

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome
Sarcoma

Criteria Provided
Conflicting Classifications

CA072089

rs_749922503

6 SubmittersRCV000467499 RCV000774613 RCV001712419 RCV002268086 RCV004001840 RCV005899491

NM_000179.3(MSH6):c.3861T>C (p.Tyr1287=)

SNV
Germline

Chr2:47806511

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16610952

rs_1060504739

5 SubmittersRCV000565757 RCV001493899 RCV004002157 RCV004999508 RCV005426040

NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)

SNV
Germline

Chr2:47803435

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Reviewed By Expert Panel

CA16610953

rs_1060502901

10 SubmittersRCV000491375 RCV000623149 RCV002051855 RCV002272245 RCV002230108 RCV004001829

NM_000179.3(MSH6):c.3205G>C (p.Gly1069Arg)

SNV
Germline

Chr2:47803452

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Malignant tumor of breast
Lynch syndrome
Endometrial carcinoma
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA070372

rs_764113705

11 SubmittersRCV000464681 RCV000483362 RCV000491614 RCV000662364 RCV001354888 RCV004001848 RCV004568054 RCV005027529

NM_000179.3(MSH6):c.3886A>G (p.Lys1296Glu)

SNV
Germline

Chr2:47806536

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610959

rs_575714670

7 SubmittersRCV000477645 RCV000561056 RCV001290552 RCV003477984 RCV004000829

NM_000179.3(MSH6):c.3949C>G (p.His1317Asp)

SNV
Germline

Chr2:47806599

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA072360

rs_759092293

7 SubmittersRCV000463911 RCV000485411 RCV000566983 RCV000662834 RCV003463934

NM_000179.3(MSH6):c.1572C>A (p.Tyr524Ter)

SNV
Germline

Chr2:47799555

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16610964

rs_587779215

6 SubmittersRCV000457937 RCV000491224 RCV000523866 RCV000791425 RCV003449146 RCV003463929

NM_000179.3(MSH6):c.3556G>C (p.Gly1186Arg)

SNV
Germline

Chr2:47805027

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16610969

rs_1060502909

5 SubmittersRCV000465628 RCV000775741 RCV004001834 RCV005899490

NM_000251.3(MSH2):c.23C>G (p.Thr8Arg)

SNV
Germline

Chr2:47403214

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16610971

rs_17217716

6 SubmittersRCV000460417 RCV000564460 RCV001798836 RCV004806310 RCV004568016

NM_000179.3(MSH6):c.1660C>T (p.Arg554Cys)

SNV
Germline

Chr2:47799643

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067976

rs_775716798

8 SubmittersRCV000473757 RCV000580839 RCV001030493 RCV001566013 RCV004568055 RCV004806326

NM_000179.3(MSH6):c.3556+1G>A

SNV
Germline

Chr2:47805028

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16610973

rs_1060502926

5 SubmittersRCV000475044 RCV002451123 RCV003449150 RCV004767273

NM_000179.3(MSH6):c.3607C>A (p.His1203Asn)

SNV
Germline

Chr2:47805668

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16610976

rs_876660882

11 SubmittersRCV000457877 RCV000490961 RCV002496783 RCV003148746 RCV004001861 RCV003463944 RCV005421805

NM_000179.3(MSH6):c.3988C>G (p.Leu1330Val)

SNV
Germline

Chr2:47806638

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA16610987

rs_768944975

8 SubmittersRCV000466998 RCV000775745 RCV001555679 RCV003470467 RCV004001844 RCV005355858

NM_000179.3(MSH6):c.1946A>G (p.Asp649Gly)

SNV
Germline

Chr2:47799929

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA16610993

rs_777799551

9 SubmittersRCV000458338 RCV000562905 RCV002281095 RCV004001856 RCV004740241

NM_000179.3(MSH6):c.1984A>G (p.Met662Val)

SNV
Germline

Chr2:47799967

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610994

rs_1060502935

5 SubmittersRCV000461074 RCV001013909 RCV003320187 RCV004806327

NM_000179.3(MSH6):c.2017C>G (p.Pro673Ala)

SNV
Germline

Chr2:47800000

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA068368

rs_377356882

8 SubmittersRCV000470045 RCV000491796 RCV001565312 RCV004001833 RCV003463933 RCV005355855

NM_000251.3(MSH2):c.388C>T (p.Gln130Ter)

SNV
Germline

Chr2:47410115

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA16610998

rs_1060501989

7 SubmittersRCV000657785 RCV001190389 RCV002289610 RCV002230796

NM_000251.3(MSH2):c.439G>A (p.Val147Ile)

SNV
Germline

Chr2:47410166

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA038750

rs_773125415

9 SubmittersRCV000458857 RCV000568213 RCV000759835 RCV003449128 RCV004000775 RCV005398619

NM_000251.3(MSH2):c.645+8A>G

SNV
Germline

Chr2:47410380

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA039780

rs_140217708

5 SubmittersRCV000463062 RCV000581014 RCV003150228 RCV005248009

NM_000251.3(MSH2):c.712T>G (p.Tyr238Asp)

SNV
Germline

Chr2:47412480

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Intestinal polyposis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16611002

rs_1060501987

6 SubmittersRCV001026074 RCV002230355 RCV004000771 RCV005625612 RCV006259952

NM_000179.3(MSH6):c.2355T>A (p.His785Gln)

SNV
Germline

Chr2:47800338

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16611005

rs_1060502942

8 SubmittersRCV000464632 RCV000566667 RCV000759132 RCV004001857 RCV004568057 RCV005055114

NM_000251.3(MSH2):c.726C>G (p.Asn242Lys)

SNV
Germline

Chr2:47412494

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA16611006

rs_748427458

9 SubmittersRCV000457050 RCV000519119 RCV000775712 RCV004568017 RCV004806311 RCV005027512 RCV006268787

NM_000179.3(MSH6):c.2550C>G (p.Tyr850Ter)

SNV
Germline

Chr2:47800533

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Gastric cancer
Lynch syndrome 5
Lynch syndrome
Mismatch repair cancer syndrome 3
Lynch syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16611011

rs_374230313

9 SubmittersRCV000469257 RCV000566681 RCV003168831 RCV003449149 RCV003483627 RCV004001837 RCV005431683 RCV005355856

NM_000251.3(MSH2):c.803C>T (p.Ser268Leu)

SNV
Germline

Chr2:47414279

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA040677

rs_563410947

7 SubmittersRCV001027097 RCV001358282 RCV002230810 RCV003470449

NM_000179.3(MSH6):c.2757A>C (p.Glu919Asp)

SNV
Germline

Chr2:47800740

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611013

rs_866493167

5 SubmittersRCV000460470 RCV002255396 RCV003470465 RCV004806323

NM_000179.3(MSH6):c.2963G>C (p.Arg988Pro)

SNV
Germline

Chr2:47800946

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA069882

rs_115386788

4 SubmittersRCV002230416 RCV002436447 RCV004001842 RCV004568052

NM_000179.3(MSH6):c.3173-3C>G

SNV
Germline

Chr2:47803417

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16611020

rs_1060502944

3 SubmittersRCV000460492 RCV002230128 RCV004022787

NM_000251.3(MSH2):c.1009C>G (p.Gln337Glu)

SNV
Germline

Chr2:47416362

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611022

rs_63750778

5 SubmittersRCV000462262 RCV001016976 RCV001800676 RCV004806309

NM_000251.3(MSH2):c.1510+2T>C

SNV
Germline

Chr2:47463156

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16611029

rs_1060502023

7 SubmittersRCV000491134 RCV001543671 RCV002230366 RCV001782943

NM_000251.3(MSH2):c.1657A>T (p.Asn553Tyr)

SNV
Germline

Chr2:47466804

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA029966

rs_772772789

6 SubmittersRCV000477039 RCV000774572 RCV003156243 RCV004000787

NM_000251.3(MSH2):c.1662-10C>T

SNV
Germline

Chr2:47470955

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA030213

rs_752606387

8 SubmittersRCV000580913 RCV000590414 RCV001083456 RCV003150227 RCV004782391 RCV005247086

NM_000251.3(MSH2):c.1777C>G (p.Gln593Glu)

SNV
Germline

Chr2:47475042

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16611035

rs_63750200

5 SubmittersRCV000467112 RCV001013110 RCV004000784 RCV006273777

NM_000179.3(MSH6):c.3364C>G (p.Gln1122Glu)

SNV
Germline

Chr2:47803611

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611045

rs_1060502892

7 SubmittersRCV000467819 RCV000662840 RCV000773186 RCV001805074 RCV004001824

NM_000179.3(MSH6):c.3465G>T (p.Gln1155His)

SNV
Germline

Chr2:47804936

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
not specified
MSH6-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611046

rs_766817979

10 SubmittersRCV000465952 RCV000564013 RCV000985845 RCV003463936 RCV003401482 RCV004740240 RCV004001838

NM_000251.3(MSH2):c.2267C>G (p.Thr756Ser)

SNV
Germline

Chr2:47478328

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035142

rs_372383829

8 SubmittersRCV000464961 RCV000573097 RCV000781562 RCV001788225 RCV003228932 RCV004000793

NM_000251.3(MSH2):c.2272G>A (p.Asp758Asn)

SNV
Germline

Chr2:47478333

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16611050

rs_876658254

4 SubmittersRCV000477479 RCV002446812 RCV004568015

NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr)

SNV
Germline

Chr2:47478382

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA16611051

rs_878853811

13 SubmittersRCV000473566 RCV000761089 RCV001015184 RCV001284505 RCV003315429 RCV005027511

NM_000251.3(MSH2):c.2459-1G>A

SNV
Germline/somatic

Chr2:47480695

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16611057

rs_1060501991

4 SubmittersRCV000465186 RCV001201394 RCV002446811 RCV003449127

NM_000251.3(MSH2):c.2634+7C>G

SNV
Germline

Chr2:47480878

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16611063

rs_905179122

5 SubmittersRCV000469067 RCV000613916 RCV005247998

NM_000179.3(MSH6):c.3529C>G (p.Leu1177Val)

SNV
Germline

Chr2:47805000

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA071122

rs_748398941

8 SubmittersRCV000469909 RCV000521217 RCV000568727 RCV000663017 RCV004001826 RCV003463928

NM_000179.3(MSH6):c.76A>G (p.Arg26Gly)

SNV
Germline

Chr2:47783309

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16611071

rs_757622849

6 SubmittersRCV000468207 RCV000564743 RCV004568058 RCV004806329 RCV005056025

NM_000179.3(MSH6):c.197C>T (p.Pro66Leu)

SNV
Germline

Chr2:47783430

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611077

rs_730881812

5 SubmittersRCV000470612 RCV000485693 RCV000776536 RCV004001846

NM_000179.3(MSH6):c.3979A>T (p.Asn1327Tyr)

SNV
Germline

Chr2:47806629

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA16611088

rs_756216566

7 SubmittersRCV000473620 RCV000571258 RCV002307506 RCV004568053 RCV004001847 RCV005398630

NM_000179.3(MSH6):c.1776A>G (p.Val592=)

SNV
Germline

Chr2:47799759

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA068125

rs_56132616

7 SubmittersRCV000473056 RCV000562495 RCV004002168 RCV005355908

NM_000179.3(MSH6):c.2013G>A (p.Leu671=)

SNV
Germline

Chr2:47799996

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068362

rs_765289515

7 SubmittersRCV000471664 RCV000491045 RCV000600881 RCV001140444 RCV004002161

NM_000179.3(MSH6):c.2235T>G (p.Ile745Met)

SNV
Germline

Chr2:47800218

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068645

rs_556339046

6 SubmittersRCV000473197 RCV000663137 RCV001014897 RCV004806318

NM_000179.3(MSH6):c.2527A>G (p.Ile843Val)

SNV
Germline

Chr2:47800510

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16611151

rs_1060502922

8 SubmittersRCV000471414 RCV000584043 RCV001775812 RCV003470466 RCV004001841 RCV005033987 RCV004576954

NM_000179.3(MSH6):c.2614A>G (p.Ile872Val)

SNV
Germline

Chr2:47800597

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611154

rs_1060502939

6 SubmittersRCV000470821 RCV000491946 RCV000759137 RCV004001855

NM_000179.3(MSH6):c.3560A>G (p.Glu1187Gly)

SNV
Germline

Chr2:47805621

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
MSH6-related disorder
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA071386

rs_150632241

9 SubmittersRCV000464152 RCV000486385 RCV000491973 RCV004001845 RCV004539952 RCV005055113

NM_000179.3(MSH6):c.3586G>C (p.Glu1196Gln)

SNV
Germline

Chr2:47805647

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071434

rs_75095286

10 SubmittersRCV000467878 RCV000574327 RCV000587963 RCV003470469 RCV002496782 RCV004001852

NM_000179.3(MSH6):c.3803C>T (p.Ala1268Val)

SNV
Germline

Chr2:47806453

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611177

rs_587779293

7 SubmittersRCV000461283 RCV000481062 RCV000663066 RCV002356690 RCV004001831

NM_000179.3(MSH6):c.4012C>T (p.Leu1338=)

SNV
Germline

Chr2:47806789

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
MSH6-related disorder
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16611189

rs_1060504743

6 SubmittersRCV000460305 RCV001021659 RCV003441892 RCV004541496 RCV005426043

NM_000249.4(MLH1):c.1331A>G (p.Asn444Ser)

SNV
Germline

Chr3:37025929

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA028235

rs_763189331

9 SubmittersRCV000587089 RCV001088444 RCV001190846 RCV004002034 RCV005247065 RCV005355875

NM_000249.4(MLH1):c.1667+4A>G

SNV
Germline

Chr3:37040298

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA16611233

rs_983986337

10 SubmittersRCV000464057 RCV000777682 RCV001354080 RCV002254696 RCV004000655 RCV005033966

NM_000249.4(MLH1):c.1897-7C>T

SNV
Germline/somatic

Chr3:37048510

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
not specified
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA031471

rs_373078652

9 SubmittersRCV000461885 RCV000759811 RCV000758581 RCV001189941 RCV001535615 RCV004689743 RCV005247025

NM_000249.4(MLH1):c.589-6T>G

SNV
Germline

Chr3:37012005

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA037159

rs_781244266

5 SubmittersRCV000467939 RCV000662708 RCV001525125 RCV004000652

NM_000249.4(MLH1):c.779T>A (p.Leu260His)

SNV
Germline

Chr3:37014533

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611244

rs_63751283

8 SubmittersRCV000463982 RCV000484437 RCV000561786 RCV000662376 RCV004000658

NM_000249.4(MLH1):c.2020G>A (p.Glu674Lys)

SNV
Germline

Chr3:37048934

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
MLH1-related disorder
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA032265

rs_755577490

9 SubmittersRCV000456564 RCV001189202 RCV001354280 RCV003409613 RCV004000665 RCV004022567 RCV005230373 RCV005033967

NM_000249.4(MLH1):c.1457C>T (p.Ser486Phe)

SNV
Germline

Chr3:37028831

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Ovarian cancer
Lynch syndrome
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA028856

rs_532873141

9 SubmittersRCV000460169 RCV000481335 RCV000574118 RCV003153588 RCV004000656 RCV005355793 RCV005600914

NM_000249.4(MLH1):c.359C>G (p.Ala120Gly)

SNV
Germline

Chr3:37004453

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611319

rs_267607740

7 SubmittersRCV000469673 RCV000581297 RCV001193964 RCV003476024 RCV004000660

NM_000249.4(MLH1):c.1150G>A (p.Val384Ile)

SNV
Germline

Chr3:37025748

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA027240

rs_757350157

6 SubmittersRCV000470621 RCV002348276 RCV003150814 RCV003150815 RCV004000659 RCV004999429

NM_000249.4(MLH1):c.41C>T (p.Thr14Ile)

SNV
Germline

Chr3:36993588

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA035624

rs_774363593

6 SubmittersRCV000456258 RCV000478685 RCV000571643 RCV004000651 RCV004567956

NM_000249.4(MLH1):c.652T>C (p.Ser218Pro)

SNV
Germline

Chr3:37012074

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA037512

rs_750650349

8 SubmittersRCV000475778 RCV000564654 RCV000987155 RCV001280631 RCV004000657 RCV005365304

NM_000249.4(MLH1):c.2242G>C (p.Asp748His)

SNV
Germline

Chr3:37050624

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA033975

rs_374380262

6 SubmittersRCV000464953 RCV000776448 RCV003153596 RCV004000666

NM_000535.7(PMS2):c.1920A>G (p.Glu640=)

SNV
Germline

Chr7:5986845

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16612117

rs_1060503113

4 SubmittersRCV001775815 RCV002230425 RCV002411503 RCV005421806

NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter)

SNV
Germline

Chr7:5987417

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16612130

rs_1060503142

4 SubmittersRCV000466795 RCV003168843 RCV003114589 RCV006633916

NM_000535.7(PMS2):c.1262G>A (p.Arg421Gln)

SNV
Germline

Chr7:5987503

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided
not specified
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA042857

rs_778482303

10 SubmittersRCV000463628 RCV000580340 RCV001257486 RCV001753907 RCV004586719 RCV005398635

NM_000535.7(PMS2):c.353+2T>C

SNV
Germline

Chr7:6003688

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Lynch syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA049344

rs_111466480

10 SubmittersRCV000468932 RCV001020538 RCV001782956 RCV003449154 RCV004001879 RCV005407122

NM_000535.7(PMS2):c.27A>C (p.Thr9=)

SNV
Germline

Chr7:6006028

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16612160

rs_1060504842

6 SubmittersRCV000470381 RCV000565306 RCV001575187 RCV002298610 RCV005421875

NM_000535.7(PMS2):c.2101C>T (p.His701Tyr)

SNV
Germline

Chr7:5982897

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA046594

rs_763866879

3 SubmittersRCV000477635 RCV002418417 RCV004568065

NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg)

SNV
Germline

Chr7:5986837

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA045882

rs_760629688

7 SubmittersRCV000463007 RCV000573574 RCV000765955 RCV001821289 RCV004001875

NM_000535.7(PMS2):c.1480T>G (p.Ser494Ala)

SNV
Germline

Chr7:5987285

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16612219

rs_587782500

5 SubmittersRCV000467052 RCV000575214 RCV001821288 RCV005421807

NM_000535.7(PMS2):c.1382C>T (p.Ala461Val)

SNV
Germline

Chr7:5987383

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16612221

rs_1060503133

4 SubmittersRCV000475453 RCV000564795 RCV005600937

NM_000535.7(PMS2):c.1249A>C (p.Ile417Leu)

SNV
Germline

Chr7:5987516

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16612223

rs_1060503132

7 SubmittersRCV000461212 RCV001186458 RCV001193251 RCV001548440 RCV004001878

NM_000535.7(PMS2):c.1243G>T (p.Val415Leu)

SNV
Germline

Chr7:5987522

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA042760

rs_138387687

8 SubmittersRCV000465085 RCV000587977 RCV000772619 RCV002268088 RCV004001883

NM_000535.7(PMS2):c.591C>T (p.Gly197=)

SNV
Germline

Chr7:5999222

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
not specified
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA050497

rs_748518694

8 SubmittersRCV000471455 RCV000571978 RCV003151778 RCV004001877 RCV006268791 RCV005421808

NM_000535.7(PMS2):c.538-2A>G

SNV
Germline

Chr7:5999277

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Gastric cancer
Mismatch repair cancer syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA050225

rs_758304323

14 SubmittersRCV000469599 RCV000663281 RCV000775368 RCV000825602 RCV001576762 RCV003168841 RCV005230407

NM_000535.7(PMS2):c.58C>G (p.Arg20Gly)

SNV
Germline

Chr7:6005997

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA050459

rs_573374779

6 SubmittersRCV000468998 RCV000561984 RCV002289614 RCV004001884

NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter)

SNV
Germline

Chr7:5987112

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16612257

rs_876659162

6 SubmittersRCV000456471 RCV000583993 RCV002402290 RCV003449159 RCV004017630

NM_000535.7(PMS2):c.1489G>A (p.Gly497Ser)

SNV
Germline

Chr7:5987276

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4
not specified

Criteria Provided
Conflicting Classifications

CA043920

rs_749826312

8 SubmittersRCV000464024 RCV000573656 RCV001597142 RCV004001872 RCV005044691 RCV004800416

NM_000535.7(PMS2):c.1393A>C (p.Lys465Gln)

SNV
Germline

Chr7:5987372

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16612262

rs_1060503135

5 SubmittersRCV002230436 RCV003449155 RCV004022861 RCV004806331

NM_000535.7(PMS2):c.886C>T (p.Pro296Ser)

SNV
Germline

Chr7:5995551

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA052116

rs_375553553

5 SubmittersRCV000475272 RCV000480563 RCV000564830 RCV003470480

NM_000535.7(PMS2):c.713G>A (p.Ser238Asn)

SNV
Germline

Chr7:5997416

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16612276

rs_1060503111

7 SubmittersRCV000470673 RCV000569996 RCV000987844 RCV004001873 RCV006550128

NM_000535.7(PMS2):c.711A>G (p.Gln237=)

SNV
Germline

Chr7:5997418

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16612281

rs_368608818

9 SubmittersRCV000462666 RCV000575513 RCV001672776 RCV001821290 RCV004001881 RCV005426022

NM_000535.7(PMS2):c.94G>T (p.Val32Leu)

SNV
Germline

Chr7:6005961

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
Lynch syndrome 4
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA16612292

rs_977251189

7 SubmittersRCV000473006 RCV000562693 RCV000485503 RCV001356469 RCV004568064 RCV004742426

NM_000535.7(PMS2):c.13G>C (p.Glu5Gln)

SNV
Germline

Chr7:6009007

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA043392

rs_372539944

7 SubmittersRCV000471375 RCV000479582 RCV000572234 RCV002298604 RCV004001874

NM_000535.7(PMS2):c.2562C>T (p.Ala854=)

SNV
Germline

Chr7:5973426

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16612377

rs_1060504841

4 SubmittersRCV000470777 RCV000572558 RCV004999513 RCV005421874

NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter)

SNV
Germline

Chr7:5978679

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16612382

rs_1060503110

4 SubmittersRCV000521108 RCV000477621 RCV003449153 RCV005401448

NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter)

SNV
Germline

Chr7:5986874

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16612391

rs_1060503138

5 SubmittersRCV000679346 RCV002230130 RCV003449157 RCV004649166

NM_000535.7(PMS2):c.1675G>A (p.Gly559Arg)

SNV
Germline

Chr7:5987090

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA045058

rs_751153838

7 SubmittersRCV000471818 RCV001012607 RCV003227761 RCV004001876 RCV005033990

NM_000535.7(PMS2):c.1361T>C (p.Leu454Pro)

SNV
Germline

Chr7:5987404

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA043156

rs_772659239

4 SubmittersRCV000472222 RCV000574931 RCV004001882

NM_000535.7(PMS2):c.230A>C (p.Glu77Ala)

SNV
Germline

Chr7:6003992

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA047490

rs_777095030

11 SubmittersRCV000481770 RCV000477451 RCV000776176 RCV002268089 RCV004001885

NM_001040108.2(MLH3):c.2425A>G (p.Met809Val)

SNV
Germline

Chr14:75047231

Conflicting classifications of pathogenicity

Malignant tumor of breast
Colorectal cancer, hereditary nonpolyposis, type 7
Condition: not provided
not specified
Lynch syndrome 1
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA7275709

rs_61752722

10 SubmittersRCV001270153 RCV001119882 RCV001354157 RCV002268106 RCV002463679 RCV005235348

NM_000251.3(MSH2):c.-8G>T

SNV
Germline

Chr2:47403184

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16617542

rs_1064795641

7 SubmittersRCV000483429 RCV000775786 RCV001778977 RCV001865467 RCV004535525 RCV005248062

NM_000251.3(MSH2):c.-2A>C

SNV
Germline

Chr2:47403190

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16617543

rs_906564011

5 SubmittersRCV000486780 RCV000569764 RCV001865451 RCV005248057

NM_000251.3(MSH2):c.47A>C (p.Glu16Ala)

SNV
Germline

Chr2:47403238

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038939

rs_745771647

8 SubmittersRCV000484013 RCV000540608 RCV002329151 RCV003464016 RCV004003345

NM_000251.3(MSH2):c.62G>T (p.Arg21Leu)

SNV
Germline

Chr2:47403253

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA16617546

rs_730881760

7 SubmittersRCV000485060 RCV000552453 RCV000572631 RCV004568168 RCV004800420

NM_000251.3(MSH2):c.72G>C (p.Gln24His)

SNV
Germline

Chr2:47403263

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617547

rs_1064794928

5 SubmittersRCV000479166 RCV000569588 RCV001062881 RCV004003346

NM_000251.3(MSH2):c.100G>A (p.Val34Met)

SNV
Germline

Chr2:47403291

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA16617548

rs_1064793541

7 SubmittersRCV000484906 RCV001016981 RCV001037181 RCV004002277 RCV005365347

NM_000251.3(MSH2):c.103C>G (p.Arg35Gly)

SNV
Germline

Chr2:47403294

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16617549

rs_1060502034

6 SubmittersRCV000483915 RCV000579393 RCV000629871 RCV004806367 RCV005398701

NM_000251.3(MSH2):c.128A>T (p.Tyr43Phe)

SNV
Germline

Chr2:47403319

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16617550

rs_17217723

9 SubmittersRCV000484092 RCV000564344 RCV000811394 RCV001358224 RCV004806362 RCV005600948

NM_000251.3(MSH2):c.422T>C (p.Met141Thr)

SNV
Germline

Chr2:47410149

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038657

rs_768313658

7 SubmittersRCV000759834 RCV000773079 RCV001246708 RCV003470539 RCV004002296

NM_000251.3(MSH2):c.440T>G (p.Val147Gly)

SNV
Germline

Chr2:47410167

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA038774

rs_760851623

9 SubmittersRCV000588981 RCV000771216 RCV001051880 RCV004535515 RCV004003339 RCV005355946

NM_000251.3(MSH2):c.743A>G (p.Lys248Arg)

SNV
Germline

Chr2:47412511

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA16617562

rs_1064794704

10 SubmittersRCV000757471 RCV000775779 RCV001046068 RCV001824799 RCV004735561

NM_000251.3(MSH2):c.818T>C (p.Val273Ala)

SNV
Germline

Chr2:47414294

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA040789

rs_144288433

8 SubmittersRCV000480961 RCV000558255 RCV000566262 RCV000656874 RCV001250426

NM_000251.3(MSH2):c.942+3A>G

SNV
Germline

Chr2:47414421

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA16617570

rs_193922376

8 SubmittersRCV000479341 RCV000530947 RCV001019334 RCV003463979 RCV003387853 RCV005355921

NM_000251.3(MSH2):c.1045C>A (p.Pro349Thr)

SNV
Germline

Chr2:47416398

Likely pathogenic

Condition: not provided
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16617573

rs_267607939

4 SubmittersRCV000480250 RCV001355929 RCV003766712 RCV003485590

NM_000251.3(MSH2):c.1087G>T (p.Val363Leu)

SNV
Germline

Chr2:47429752

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA026946

rs_377345366

10 SubmittersRCV000479898 RCV000561329 RCV000629790 RCV001821392 RCV004002282

NM_000251.3(MSH2):c.1159C>T (p.Leu387Phe)

SNV
Germline

Chr2:47429824

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027116

rs_751249745

7 SubmittersRCV000478467 RCV000559869 RCV000567051 RCV003463981 RCV004002270

NM_000251.3(MSH2):c.1315C>G (p.Pro439Ala)

SNV
Germline

Chr2:47445586

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA16617576

rs_786203116

7 SubmittersRCV000487340 RCV001010926 RCV001030709 RCV001851231 RCV004003373 RCV005027555

NM_000251.3(MSH2):c.1387G>A (p.Val463Met)

SNV
Germline

Chr2:47463031

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617578

rs_1064793825

5 SubmittersRCV000478449 RCV000572368 RCV001210873 RCV004002297

NM_000251.3(MSH2):c.1432C>T (p.Leu478Phe)

SNV
Germline

Chr2:47463076

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16617579

rs_1051194508

6 SubmittersRCV000485109 RCV000572164 RCV000698504 RCV004003319 RCV003470555

NM_000251.3(MSH2):c.1465G>T (p.Glu489Ter)

SNV
Germline

Chr2:47463109

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16617580

rs_876658187

4 SubmittersRCV000487159 RCV002395148 RCV002525793 RCV003449190

NM_000251.3(MSH2):c.1473G>T (p.Lys491Asn)

SNV
Germline

Chr2:47463117

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16617581

rs_1064795039

5 SubmittersRCV000480852 RCV000775781 RCV001359758 RCV003470567

NM_000251.3(MSH2):c.1570C>T (p.Arg524Cys)

SNV
Germline/somatic

Chr2:47466717

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch-like syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA029597

rs_755818010

11 SubmittersRCV000484414 RCV000552575 RCV000569307 RCV000759820 RCV001250041 RCV004003360 RCV005248060

NM_000251.3(MSH2):c.1729A>G (p.Ile577Val)

SNV
Germline

Chr2:47471032

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA030657

rs_774985655

6 SubmittersRCV000484349 RCV000581019 RCV000630236 RCV004003366

NM_000251.3(MSH2):c.1765G>A (p.Val589Ile)

SNV
Germline

Chr2:47475030

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617588

rs_1064793981

8 SubmittersRCV000479480 RCV000551068 RCV000581059 RCV000766532 RCV003470543 RCV004002307

NM_000251.3(MSH2):c.1807G>C (p.Asp603His)

SNV
Germline

Chr2:47475072

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA16617590

rs_63750657

6 SubmittersRCV000485623 RCV002280119 RCV001187838 RCV003758780

NM_000251.3(MSH2):c.1910C>G (p.Ser637Cys)

SNV
Germline

Chr2:47475175

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA16617596

rs_1064795992

5 SubmittersRCV000482793 RCV000816301 RCV001013660 RCV005027557

NM_000251.3(MSH2):c.1967A>C (p.Tyr656Ser)

SNV
Germline

Chr2:47475232

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617598

rs_185356145

8 SubmittersRCV000479030 RCV000688258 RCV001013864 RCV002230906 RCV003463995 RCV004002300

NM_000251.3(MSH2):c.1968C>A (p.Tyr656Ter)

SNV
Germline

Chr2:47475233

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16617599

rs_63751317

4 SubmittersRCV000482698 RCV000491519 RCV000791741 RCV003449192

NM_000251.3(MSH2):c.2298A>G (p.Ile766Met)

SNV
Germline

Chr2:47478359

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617601

rs_1064795116

6 SubmittersRCV000527665 RCV000563540 RCV000484269 RCV003464020 RCV004003352

NM_000251.3(MSH2):c.2459-2A>G

SNV
Germline

Chr2:47480694

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16617603

rs_267608011

4 SubmittersRCV000478491 RCV000491654 RCV001379380 RCV003449196

NM_000251.3(MSH2):c.2519T>C (p.Val840Ala)

SNV
Germline

Chr2:47480756

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16617604

rs_1064794561

5 SubmittersRCV000482567 RCV000568796 RCV000630056 RCV003470561

NM_000251.3(MSH2):c.2651T>C (p.Ile884Thr)

SNV
Germline

Chr2:47482795

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16617611

rs_63750409

5 SubmittersRCV000485019 RCV000549838 RCV001016216 RCV004568150

NM_000179.3(MSH6):c.67G>C (p.Ala23Pro)

SNV
Germline

Chr2:47783300

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617616

rs_730881810

8 SubmittersRCV000482378 RCV000537973 RCV000565704 RCV003387854 RCV004002285

NM_000179.3(MSH6):c.95G>A (p.Gly32Asp)

SNV
Germline

Chr2:47783328

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA073654

rs_771426932

6 SubmittersRCV000479170 RCV000708720 RCV001238728 RCV005421926

NM_000179.3(MSH6):c.116G>C (p.Gly39Ala)

SNV
Germline

Chr2:47783349

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA067248

rs_1042821

6 SubmittersRCV000480607 RCV000823347 RCV002329143 RCV004002284 RCV006268801

NM_000179.3(MSH6):c.170C>T (p.Pro57Leu)

SNV
Germline

Chr2:47783403

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617618

rs_1064793657

5 SubmittersRCV000487030 RCV000538832 RCV000776541 RCV004806353

NM_000179.3(MSH6):c.175C>T (p.Pro59Ser)

SNV
Germline

Chr2:47783408

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA068115

rs_761033647

7 SubmittersRCV000482176 RCV000557696 RCV000560960 RCV004003399 RCV004568208 RCV005600951

NM_000179.3(MSH6):c.389A>G (p.His130Arg)

SNV
Germline

Chr2:47791055

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16617626

rs_1064793184

6 SubmittersRCV000482046 RCV000553070 RCV001183214 RCV004002246 RCV006273820

NM_000179.3(MSH6):c.690A>G (p.Glu230=)

SNV
Germline

Chr2:47798673

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617634

rs_1064795970

5 SubmittersRCV000481633 RCV001183212 RCV003758791 RCV004003386

NM_000179.3(MSH6):c.817G>T (p.Gly273Ter)

SNV
Germline

Chr2:47798800

Pathogenic

Condition: not provided
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16617637

rs_587779948

2 SubmittersRCV000483641 RCV004591426

NM_000179.3(MSH6):c.1025C>T (p.Ala342Val)

SNV
Germline

Chr2:47799008

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA067043

rs_753617680

6 SubmittersRCV000481708 RCV000564150 RCV000697119 RCV004806351 RCV005230939

NM_000179.3(MSH6):c.1069G>A (p.Asp357Asn)

SNV
Germline

Chr2:47799052

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA067106

rs_771529531

8 SubmittersRCV000485837 RCV000582356 RCV000629703 RCV003464014 RCV004003341 RCV005407142

NM_000179.3(MSH6):c.1078A>G (p.Ser360Gly)

SNV
Germline

Chr2:47799061

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA067126

rs_145994565

7 SubmittersRCV000563224 RCV000629709 RCV001704606 RCV004003316 RCV005398691

NM_000179.3(MSH6):c.1444C>G (p.Arg482Gly)

SNV
Germline

Chr2:47799427

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA16617652

rs_63750909

3 SubmittersRCV000480474 RCV001267895 RCV001851230

NM_000179.3(MSH6):c.1633A>G (p.Lys545Glu)

SNV
Germline

Chr2:47799616

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16617656

rs_1064793403

8 SubmittersRCV000479973 RCV000545794 RCV000574287 RCV000765683 RCV000659891 RCV003470532 RCV004002268 RCV005034011

NM_000179.3(MSH6):c.1637A>G (p.Glu546Gly)

SNV
Germline

Chr2:47799620

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067957

rs_373554374

5 SubmittersRCV000487153 RCV000582070 RCV000706852 RCV004002289

NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter)

SNV
Germline

Chr2:47799697

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16617658

rs_1064795256

6 SubmittersRCV000487144 RCV001036388 RCV001643202 RCV002402404 RCV003449215

NM_000179.3(MSH6):c.1716G>T (p.Gln572His)

SNV
Germline

Chr2:47799699

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA068066

rs_745772518

7 SubmittersRCV000482393 RCV000580006 RCV000705166 RCV004806350 RCV005365346

NM_000179.3(MSH6):c.1933G>T (p.Glu645Ter)

SNV
Germline

Chr2:47799916

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16617661

rs_1064795591

6 SubmittersRCV000483556 RCV000490938 RCV000685973 RCV003449220 RCV003464024

NM_000179.3(MSH6):c.2122G>T (p.Glu708Ter)

SNV
Germline

Chr2:47800105

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16617667

rs_1064795960

3 SubmittersRCV000486081 RCV000491313 RCV003449238

NM_000179.3(MSH6):c.2195G>C (p.Arg732Pro)

SNV
Germline

Chr2:47800178

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16617670

rs_749746725

6 SubmittersRCV000483131 RCV000571852 RCV001238127 RCV004003395 RCV005034022

NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser)

SNV
Germline

Chr2:47800283

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Mismatch repair cancer syndrome 1
Endometrial carcinoma
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Lynch syndrome
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA068793

rs_587781462

11 SubmittersRCV000542142 RCV000580933 RCV000662407 RCV000765686 RCV001284514 RCV004568160 RCV004002290 RCV005398686

NM_000179.3(MSH6):c.2302C>G (p.Pro768Ala)

SNV
Germline

Chr2:47800285

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068796

rs_35946687

7 SubmittersRCV000481556 RCV000822224 RCV001190572 RCV003470572 RCV004003355

NM_000179.3(MSH6):c.2410A>G (p.Lys804Glu)

SNV
Germline

Chr2:47800393

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617672

rs_1064793552

8 SubmittersRCV000481034 RCV000528139 RCV000572051 RCV000781592 RCV001140446 RCV003463987 RCV004002280

NM_000179.3(MSH6):c.2534A>G (p.Tyr845Cys)

SNV
Germline

Chr2:47800517

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16617675

rs_1064794190

5 SubmittersRCV000587978 RCV001015795 RCV001062413 RCV003991028

NM_000179.3(MSH6):c.2615T>C (p.Ile872Thr)

SNV
Germline

Chr2:47800598

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617678

rs_1064793342

6 SubmittersRCV000487290 RCV000552497 RCV000567884 RCV003470530 RCV004002264

NM_000179.3(MSH6):c.2648A>C (p.Lys883Thr)

SNV
Germline

Chr2:47800631

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069399

rs_764816440

7 SubmittersRCV000484043 RCV000553546 RCV001016203 RCV004568181 RCV004003343

NM_000179.3(MSH6):c.2703T>G (p.Arg901=)

SNV
Germline

Chr2:47800686

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA16617682

rs_1064795083

4 SubmittersRCV000481296 RCV001016358 RCV002525869 RCV005426072

NM_000179.3(MSH6):c.2753A>G (p.His918Arg)

SNV
Germline

Chr2:47800736

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069591

rs_754948438

8 SubmittersRCV000480774 RCV000774604 RCV001071302 RCV003387852 RCV003470525 RCV004002247

NM_000179.3(MSH6):c.2862C>G (p.Tyr954Ter)

SNV
Germline

Chr2:47800845

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16617684

rs_1064793671

5 SubmittersRCV000480127 RCV001381214 RCV002436530 RCV003449184 RCV003463990

NM_000179.3(MSH6):c.2989A>T (p.Lys997Ter)

SNV
Germline

Chr2:47800972

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16617688

rs_1064794943

4 SubmittersRCV000478571 RCV001037717 RCV002436544 RCV003449211

NM_000179.3(MSH6):c.3062C>G (p.Ala1021Gly)

SNV
Germline

Chr2:47801045

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA070000

rs_63750287

9 SubmittersRCV000480054 RCV000565319 RCV000706203 RCV000767078 RCV004002266 RCV005421928

NM_000179.3(MSH6):c.3083C>G (p.Ser1028Ter)

SNV
Germline

Chr2:47801066

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16617691

rs_876660853

4 SubmittersRCV000481140 RCV000491967 RCV000794243 RCV003449218

NM_000179.3(MSH6):c.3254C>T (p.Thr1085Ile)

SNV
Germline

Chr2:47803501

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617694

rs_761724581

5 SubmittersRCV000484206 RCV001019455 RCV001303106 RCV004003333

NM_000179.3(MSH6):c.3257C>A (p.Pro1086His)

SNV
Germline

Chr2:47803504

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA070513

rs_780345806

6 SubmittersRCV000482150 RCV000560746 RCV000570886 RCV004003362 RCV005600947

NM_000179.3(MSH6):c.3442G>A (p.Gly1148Ser)

SNV
Germline/somatic

Chr2:47804913

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA070946

rs_63750257

6 SubmittersRCV000478492 RCV000561997 RCV000758613 RCV000820952

NM_000179.3(MSH6):c.3524C>T (p.Thr1175Ile)

SNV
Germline

Chr2:47804995

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA071114

rs_369583604

7 SubmittersRCV000484936 RCV000573926 RCV000706792 RCV004003383 RCV004568202

NM_000179.3(MSH6):c.3966A>T (p.Glu1322Asp)

SNV
Germline

Chr2:47806616

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA16617717

rs_1064794745

6 SubmittersRCV000479559 RCV000814519 RCV001186883 RCV004003337 RCV004535514

NM_000179.3(MSH6):c.3977T>C (p.Met1326Thr)

SNV
Germline

Chr2:47806627

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA072409

rs_757089977

5 SubmittersRCV000480936 RCV000574295 RCV001348367 RCV004002305

NM_000179.3(MSH6):c.3992G>A (p.Arg1331Gln)

SNV
Germline

Chr2:47806642

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
MSH6-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617720

rs_184131049

10 SubmittersRCV000482748 RCV000491185 RCV000707566 RCV000986744 RCV003479136 RCV004541518 RCV004003312

NM_000179.3(MSH6):c.4002-10T>G

SNV
Germline

Chr2:47806769

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA16617724

rs_545466048

4 SubmittersRCV000479661 RCV001081841 RCV004002302 RCV005355933

NM_000249.4(MLH1):c.-11C>T

SNV
Germline

Chr3:36993537

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Conflicting Classifications

CA16617877

rs_776898290

11 SubmittersRCV000588982 RCV000774690 RCV001057484 RCV001357773 RCV002063755 RCV003464015 RCV004596227 RCV004691784

NM_000249.4(MLH1):c.-8G>T

SNV
Germline

Chr3:36993540

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038983

rs_761672073

6 SubmittersRCV000759815 RCV000773113 RCV004003309

NM_000249.4(MLH1):c.482C>T (p.Thr161Met)

SNV
Germline/somatic

Chr3:37008842

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA036244

rs_763992299

4 SubmittersRCV000483884 RCV000574536 RCV000758571 RCV001054721

NM_000249.4(MLH1):c.563C>T (p.Ala188Val)

SNV
Germline

Chr3:37011837

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
not specified
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA036814

rs_777971431

11 SubmittersRCV000484514 RCV000574007 RCV000542526 RCV003476160 RCV004003315 RCV004526688 RCV005034014

NM_000249.4(MLH1):c.821A>G (p.Lys274Arg)

SNV
Germline

Chr3:37017536

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038499

rs_769958855

5 SubmittersRCV000481241 RCV000563768 RCV000558471 RCV000764482 RCV004002243

NM_000249.4(MLH1):c.973C>T (p.Arg325Trp)

SNV
Germline

Chr3:37020398

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617907

rs_1064793519

5 SubmittersRCV000478855 RCV000568652 RCV000630173 RCV004002275

NM_000249.4(MLH1):c.2051A>C (p.Tyr684Ser)

SNV
Germline

Chr3:37048965

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617936

rs_267607886

7 SubmittersRCV000485347 RCV000573920 RCV001044170 RCV004568151 RCV004002267

NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter)

SNV
Germline

Chr3:37050524

Pathogenic

Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16616718

rs_63750978

11 SubmittersRCV000481539 RCV000588239 RCV000817498 RCV001805097 RCV002431389 RCV003449165

NM_000535.7(PMS2):c.1963G>A (p.Gly655Arg)

SNV
Germline

Chr7:5986802

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16618496

rs_1064793236

7 SubmittersRCV000484143 RCV000524811 RCV000571850 RCV001354252 RCV004002251

NM_000535.7(PMS2):c.1765G>C (p.Asp589His)

SNV
Germline

Chr7:5987000

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16618498

rs_749727182

10 SubmittersRCV000483031 RCV000548259 RCV000561065 RCV001821390 RCV003470536 RCV004002274

NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile)

SNV
Germline

Chr7:5987005

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16618499

rs_762100304

7 SubmittersRCV000480711 RCV000584439 RCV000780618 RCV001301313 RCV004003361

NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu)

SNV
Germline

Chr7:5987079

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16618503

rs_764749700

7 SubmittersRCV000482112 RCV000554303 RCV000771397 RCV002222525 RCV002481507 RCV004002306

NM_000535.7(PMS2):c.1131G>A (p.Leu377=)

SNV
Germline

Chr7:5989813

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16618516

rs_1064794687

5 SubmittersRCV000481598 RCV000766528 RCV001471671 RCV006406680 RCV005426068

NM_000535.7(PMS2):c.828C>A (p.Cys276Ter)

SNV
Germline

Chr7:5995609

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16618521

rs_757324104

4 SubmittersRCV000487083 RCV000818334 RCV002431407 RCV003449212

NM_000535.7(PMS2):c.655G>T (p.Gly219Ter)

SNV
Germline

Chr7:5999158

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
PMS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16618526

rs_1064796190

7 SubmittersRCV000479716 RCV000629800 RCV002367652 RCV003449240 RCV004698838

NM_000535.7(PMS2):c.300G>C (p.Gln100His)

SNV
Germline

Chr7:6003743

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA16618536

rs_1064794102

5 SubmittersRCV000482334 RCV000629799 RCV000772632 RCV005044716

NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)

SNV
Germline

Chr7:6003974

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16618539

rs_1064794083

10 SubmittersRCV000484847 RCV000690271 RCV001188863 RCV002466515 RCV004002311

NM_000535.7(PMS2):c.163+1G>A

SNV
Germline

Chr7:6005891

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA16618542

rs_1064795705

7 SubmittersRCV000481277 RCV000569035 RCV003449226 RCV004806364 RCV005090959

NM_000321.3(RB1):c.607+1G>A

SNV
Germline

Chr13:48349024

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Retinoblastoma
Hepatocellular carcinoma
Hereditary retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16619811

rs_587776789

9 SubmittersRCV000483814 RCV000492670 RCV000786882 RCV002525820 RCV005899651 RCV006555062

NM_000251.3(MSH2):c.1667T>G (p.Leu556Trp)

SNV
Germline

Chr2:47470970

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
MSH2-related disorder
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA346728044

rs_587779101

6 SubmittersRCV000490580 RCV001856915 RCV002404286 RCV004722826 RCV006261970

NM_000251.3(MSH2):c.1865C>A (p.Pro622Gln)

SNV
Germline

Chr2:47475130

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346728465

rs_28929483

4 SubmittersRCV002413352 RCV003449268 RCV004701551 RCV005056070

NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly)

SNV
Germline

Chr2:47475244

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA346728864

rs_1085308057

4 SubmittersRCV000490598 RCV001039917 RCV000491547

NM_000179.3(MSH6):c.362G>A (p.Arg121His)

SNV
Germline/somatic

Chr2:47791028

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA071525

rs_769279475

11 SubmittersRCV001020758 RCV001041513 RCV001249983 RCV002475965 RCV003235247 RCV003492074 RCV004003433 RCV004568605

NM_000251.3(MSH2):c.211+1G>T

SNV
Germline

Chr2:47403403

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729068

rs_1114167883

7 SubmittersRCV000491082 RCV000507775 RCV000529790 RCV003449379

NM_000251.3(MSH2):c.391T>G (p.Phe131Val)

SNV
Germline

Chr2:47410118

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038462

rs_755423698

4 SubmittersRCV000491136 RCV000810636 RCV004003473

NM_000251.3(MSH2):c.425C>A (p.Ser142Ter)

SNV
Germline

Chr2:47410152

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730447

rs_63750910

3 SubmittersRCV000491309 RCV003449346

NM_000251.3(MSH2):c.471C>T (p.Gly157=)

SNV
Germline

Chr2:47410198

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Sarcoma

Criteria Provided
Conflicting Classifications

CA426119511

rs_61756463

8 SubmittersRCV000491903 RCV000679312 RCV000699922 RCV005899751 RCV005248069 RCV005899752

NM_000251.3(MSH2):c.509A>G (p.Gln170Arg)

SNV
Germline

Chr2:47410236

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730701

rs_1114167865

6 SubmittersRCV000491118 RCV000985813 RCV001053469 RCV001532970 RCV004003472

NM_000251.3(MSH2):c.646-1G>C

SNV
Germline

Chr2:47412413

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346731609

rs_1114167888

4 SubmittersRCV000490896 RCV001529396 RCV005443081

NM_000251.3(MSH2):c.940C>T (p.Gln314Ter)

SNV
Germline

Chr2:47414416

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733020

rs_1114167845

6 SubmittersRCV000491147 RCV000693833 RCV003449366 RCV004701554 RCV005355987

NM_000251.3(MSH2):c.942+2T>A

SNV
Germline

Chr2:47414420

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733028

rs_587779195

7 SubmittersRCV000491819 RCV001229248 RCV001800711 RCV003449349

NM_000251.3(MSH2):c.978G>A (p.Leu326=)

SNV
Germline

Chr2:47416331

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA425972748

rs_1060504418

5 SubmittersRCV000491008 RCV000831597 RCV001082782 RCV005248066

NM_000251.3(MSH2):c.1042C>T (p.Gln348Ter)

SNV
Germline

Chr2:47416395

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733213

rs_979212552

5 SubmittersRCV000491540 RCV000538358 RCV001800712 RCV003449360

NM_000251.3(MSH2):c.1148G>A (p.Arg383Gln)

SNV
Germline

Chr2:47429813

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA027092

rs_376934727

8 SubmittersRCV000490918 RCV000704685 RCV001264478 RCV004003471 RCV004527600 RCV004787801

NM_000251.3(MSH2):c.1510+1G>A

SNV
Germline/somatic

Chr2:47463155

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch-like syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA346727215

rs_1114167852

6 SubmittersRCV000491735 RCV000780446 RCV001249922 RCV003449369 RCV005091026 RCV005367350

NM_000251.3(MSH2):c.1684G>C (p.Glu562Gln)

SNV
Germline

Chr2:47470987

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728081

rs_1114167816

5 SubmittersRCV000491639 RCV001317601 RCV003464059 RCV004806373

NM_000251.3(MSH2):c.1684G>T (p.Glu562Ter)

SNV
Germline

Chr2:47470987

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA346728082

rs_1114167816

4 SubmittersRCV000491179 RCV003449344 RCV003159593

NM_000251.3(MSH2):c.1757C>G (p.Ser586Ter)

SNV
Germline

Chr2:47471060

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346728237

rs_1114167854

4 SubmittersRCV000491644 RCV000657671 RCV003449370 RCV005091027

NM_000251.3(MSH2):c.1901T>G (p.Leu634Ter)

SNV
Germline

Chr2:47475166

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Carcinoma of colon

Criteria Provided
Multiple Submitters
No Conflicts

CA346728596

rs_1114167811

4 SubmittersRCV000490923 RCV003449341 RCV000502231

NM_000251.3(MSH2):c.1933C>T (p.Gln645Ter)

SNV
Germline

Chr2:47475198

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728706

rs_267607982

4 SubmittersRCV000491204 RCV000520348 RCV001237307 RCV003449338

NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter)

SNV
Germline

Chr2:47476402

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729133

rs_730881762

5 SubmittersRCV000491607 RCV000520788 RCV000541933 RCV000586396 RCV003449362

NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro)

SNV
Germline

Chr2:47476426

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729173

rs_914610419

2 SubmittersRCV000490892 RCV003449361

NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp)

SNV
Germline/somatic

Chr2:47476435

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729189

rs_63750232

5 SubmittersRCV000490880 RCV001209603 RCV000664310 RCV000659883

NM_000251.3(MSH2):c.2081T>C (p.Phe694Ser)

SNV
Germline

Chr2:47476442

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346729201

rs_1114167857

5 SubmittersRCV000491777 RCV001356221 RCV003593972 RCV004806374

NM_000251.3(MSH2):c.2105T>A (p.Val702Glu)

SNV
Germline

Chr2:47476466

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346729242

rs_587779137

5 SubmittersRCV000491379 RCV001215708 RCV003449383 RCV004999530

NM_000251.3(MSH2):c.2335A>G (p.Met779Val)

SNV
Germline

Chr2:47478396

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729926

rs_1114167843

7 SubmittersRCV000491512 RCV001343493 RCV001796075 RCV002248720 RCV004003469

NM_000251.3(MSH2):c.2402A>C (p.His801Pro)

SNV
Germline

Chr2:47478463

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730191

rs_1114167875

2 SubmittersRCV000490997 RCV003449375

NM_000251.3(MSH2):c.2487T>G (p.His829Gln)

SNV
Germline

Chr2:47480724

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA46707640

rs_989510855

3 SubmittersRCV000492018 RCV000691228 RCV003470605

NM_000251.3(MSH2):c.2635-1G>A

SNV
Germline

Chr2:47482778

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346731306

rs_267608020

4 SubmittersRCV000491804 RCV003449378 RCV005899753

NM_000251.3(MSH2):c.2635-1G>C

SNV
Germline

Chr2:47482778

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346731308

rs_267608020

3 SubmittersRCV000491490 RCV001069463 RCV003449376

NM_000179.3(MSH6):c.16A>C (p.Thr6Pro)

SNV
Germline

Chr2:47783249

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA068021

rs_200944853

8 SubmittersRCV000490967 RCV000549468 RCV000759128 RCV003464056 RCV004003459 RCV004535548

NM_000179.3(MSH6):c.154G>T (p.Glu52Ter)

SNV
Germline

Chr2:47783387

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346734949

rs_1114167719

5 SubmittersRCV000491318 RCV001383954 RCV006263986 RCV003449303 RCV003470600

NM_000179.3(MSH6):c.377C>G (p.Ser126Ter)

SNV
Germline

Chr2:47791043

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346737042

rs_1114167689

4 SubmittersRCV000491879 RCV000703232 RCV003449282

NM_000179.3(MSH6):c.478C>T (p.Gln160Ter)

SNV
Germline

Chr2:47795914

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346738597

rs_1114167692

3 SubmittersRCV000490864 RCV001062160 RCV003449285

NM_000179.3(MSH6):c.628-2A>G

SNV
Germline

Chr2:47798609

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346739195

rs_1114167725

4 SubmittersRCV000690593 RCV001001010 RCV000491365 RCV003449307

NM_000179.3(MSH6):c.952G>T (p.Glu318Ter)

SNV
Germline

Chr2:47798935

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346740848

rs_1114167763

3 SubmittersRCV000491698 RCV001387270 RCV003449321

NM_000179.3(MSH6):c.1012A>T (p.Arg338Ter)

SNV
Germline

Chr2:47798995

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346741265

rs_1114167804

4 SubmittersRCV000491015 RCV001063240 RCV003441895 RCV003449337

NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter)

SNV
Germline

Chr2:47799098

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346741989

rs_1114167731

7 SubmittersRCV000491992 RCV001782978 RCV001851339 RCV003464049 RCV003449310

NM_000179.3(MSH6):c.1170T>A (p.Asp390Glu)

SNV
Germline

Chr2:47799153

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067253

rs_55882234

4 SubmittersRCV000491971 RCV001805109 RCV002523981 RCV004003461

NM_000179.3(MSH6):c.1243C>T (p.Gln415Ter)

SNV
Germline

Chr2:47799226

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346743776

rs_1114167756

6 SubmittersRCV000490843 RCV000657749 RCV000812630 RCV003449317 RCV004003458

NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter)

SNV
Germline

Chr2:47799282

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346744258

rs_267608055

6 SubmittersRCV000491745 RCV000502404 RCV001786392 RCV001223369 RCV003464055 RCV003449318

NM_000179.3(MSH6):c.1450G>T (p.Glu484Ter)

SNV
Germline

Chr2:47799433

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346745692

rs_587782706

5 SubmittersRCV000491319 RCV001865528 RCV003449325 RCV003464058

NM_000179.3(MSH6):c.1505T>C (p.Ile502Thr)

SNV
Germline

Chr2:47799488

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA067775

rs_749012012

6 SubmittersRCV000491991 RCV000523733 RCV000792665 RCV004806372 RCV005208137

NM_000179.3(MSH6):c.1607G>C (p.Ser536Thr)

SNV
Germline

Chr2:47799590

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346746995

rs_587782352

5 SubmittersRCV000822280 RCV000491862 RCV003464048 RCV004003456

NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter)

SNV
Germline

Chr2:47799952

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Condition: not provided
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346750600

rs_1114167709

8 SubmittersRCV000491722 RCV001204100 RCV001293606 RCV000494682 RCV003449296 RCV004003454

NM_000179.3(MSH6):c.2555A>C (p.Lys852Thr)

SNV
Germline

Chr2:47800538

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346754603

rs_1114167796

6 SubmittersRCV000491145 RCV000705526 RCV000759134 RCV004003466

NM_000179.3(MSH6):c.2910G>A (p.Trp970Ter)

SNV
Germline

Chr2:47800893

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756153

rs_765411990

6 SubmittersRCV000491637 RCV000657724 RCV003114616 RCV005401469 RCV003449331

NM_000179.3(MSH6):c.3064G>T (p.Glu1022Ter)

SNV
Germline

Chr2:47801047

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756531

rs_1114167724

3 SubmittersRCV000491094 RCV000697041 RCV003449306

NM_000179.3(MSH6):c.3088A>T (p.Lys1030Ter)

SNV
Germline

Chr2:47801071

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
MSH6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA346756575

rs_1114167707

7 SubmittersRCV000491165 RCV001284660 RCV001383493 RCV003449293 RCV003464045 RCV004541540

NM_000179.3(MSH6):c.3098T>A (p.Met1033Lys)

SNV
Germline

Chr2:47801081

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346756599

rs_751035257

5 SubmittersRCV000490990 RCV000521749 RCV000659893 RCV001865529

NM_000179.3(MSH6):c.3172+1G>A

SNV
Germline

Chr2:47801156

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346756752

rs_587779255

4 SubmittersRCV000491302 RCV001390928 RCV003449283 RCV004591436

NM_000179.3(MSH6):c.3173-1G>A

SNV
Germline

Chr2:47803419

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346757809

rs_397515875

3 SubmittersRCV000490839 RCV001856943 RCV003449319

NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly)

SNV
Germline

Chr2:47803473

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA070417

rs_63750617

6 SubmittersRCV000491655 RCV000504512 RCV000629920 RCV000759862

NM_000179.3(MSH6):c.3358G>T (p.Glu1120Ter)

SNV
Germline

Chr2:47803605

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346758771

rs_1114167793

3 SubmittersRCV000491480 RCV003449335 RCV005091022

NM_000179.3(MSH6):c.3439-2A>T

SNV
Germline

Chr2:47804908

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346759882

rs_267608098

3 SubmittersRCV000491972 RCV000703833 RCV003449312

NM_000179.3(MSH6):c.3539C>G (p.Ser1180Ter)

SNV
Germline

Chr2:47805010

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA071147

rs_766905993

4 SubmittersRCV000491840 RCV002467449 RCV003766761

NM_000179.3(MSH6):c.3557-1G>C

SNV
Germline

Chr2:47805617

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760398

rs_1114167723

6 SubmittersRCV000491533 RCV001851337 RCV001355461 RCV003449305

NM_000179.3(MSH6):c.3626T>C (p.Leu1209Pro)

SNV
Germline

Chr2:47805687

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346760597

rs_1114167688

5 SubmittersRCV000491433 RCV002523978 RCV003449281 RCV004003451

NM_000179.3(MSH6):c.3645A>G (p.Leu1215=)

SNV
Germline

Chr2:47805706

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA46717470

rs_267608113

4 SubmittersRCV000491632 RCV005091021 RCV005426078

NM_000179.3(MSH6):c.3722G>A (p.Cys1241Tyr)

SNV
Germline

Chr2:47806279

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA46719383

rs_1021631442

4 SubmittersRCV000491034 RCV000664316 RCV002523440

NM_000179.3(MSH6):c.3767A>C (p.Tyr1256Ser)

SNV
Germline

Chr2:47806324

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071991

rs_761643896

6 SubmittersRCV000491950 RCV000629866 RCV001284183 RCV004003455

NM_000179.3(MSH6):c.3965A>T (p.Glu1322Val)

SNV
Germline

Chr2:47806615

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA072394

rs_763608368

4 SubmittersRCV000491543 RCV001856944 RCV004003464

NM_000179.3(MSH6):c.3968T>C (p.Phe1323Ser)

SNV
Germline

Chr2:47806618

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46719891

rs_1051564593

7 SubmittersRCV000491517 RCV000759147 RCV000797850 RCV003316642 RCV003464057 RCV004003460

NM_000179.3(MSH6):c.4001+1G>C

SNV
Germline

Chr2:47806652

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5
Inherited polyposis and early onset colorectal cancer - germline testing
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346761612

rs_1114167729

5 SubmittersRCV000490987 RCV000588908 RCV003449309 RCV006438098 RCV006463071

NM_000251.3(MSH2):c.1215C>G (p.Tyr405Ter)

SNV
Germline

Chr2:47429880

Pathogenic

Carcinoma of colon
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346734032

rs_63751271

4 SubmittersRCV000501259 RCV002358382 RCV003449400 RCV002527179

NM_000251.3(MSH2):c.1882G>T (p.Gly628Ter)

SNV
Germline

Chr2:47475147

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728530

rs_371776176

4 SubmittersRCV000500134 RCV001384984 RCV002413374 RCV003449401

NM_000251.3(MSH2):c.2027C>T (p.Ser676Leu)

SNV
Unknown

Chr2:47476388

Likely pathogenic

Carcinoma of colon
Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729109

rs_1057520735

2 SubmittersRCV000501150 RCV003449402

NM_000251.3(MSH2):c.2211-2A>G

SNV
Germline

Chr2:47478270

Pathogenic/Likely pathogenic

Carcinoma of colon
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Multiple Submitters
No Conflicts

CA46704739

rs_267608001

6 SubmittersRCV000504524 RCV001251330 RCV000700706 RCV002431453 RCV003449405 RCV006436795

NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter)

SNV
Germline

Chr2:47478486

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730246

rs_202145681

6 SubmittersRCV000500713 RCV001865590 RCV001353705 RCV002446975 RCV003449406

NM_000251.3(MSH2):c.2656G>T (p.Glu886Ter)

SNV
Germline

Chr2:47482800

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346731415

rs_1230083633

5 SubmittersRCV000808700 RCV000501100 RCV002455962 RCV003449408

NM_000179.3(MSH6):c.2342C>T (p.Pro781Leu)

SNV
Germline

Chr2:47800325

Pathogenic/Likely pathogenic

Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA346753452

rs_1553413710

5 SubmittersRCV000589271 RCV000664307 RCV002527180 RCV004023356 RCV004701565

NM_000179.3(MSH6):c.2949G>C (p.Glu983Asp)

SNV
Germline

Chr2:47800932

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA069854

rs_780485157

6 SubmittersRCV000499422 RCV000573654 RCV001350778 RCV003470622 RCV005055121

NM_000179.3(MSH6):c.3940C>T (p.Gln1314Ter)

SNV
Germline

Chr2:47806590

Pathogenic

Carcinoma of colon
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346761501

rs_1416452389

3 SubmittersRCV000499819 RCV003449413 RCV003758803

NM_000179.3(MSH6):c.3964G>T (p.Glu1322Ter)

SNV
Germline/somatic

Chr2:47806614

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346761548

rs_1553333707

6 SubmittersRCV001035303 RCV001200630 RCV001249980 RCV002358383 RCV003449415

NM_000249.4(MLH1):c.794G>C (p.Arg265Pro)

SNV
Germline

Chr3:37017509

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA352045762

rs_63751448

6 SubmittersRCV000567811 RCV001355963 RCV000680199 RCV001212266 RCV003449396

NM_000249.4(MLH1):c.1664T>G (p.Leu555Arg)

SNV
Germline

Chr3:37040291

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA352060764

rs_587778937

3 SubmittersRCV000499458 RCV002395211 RCV003758801

NM_000535.7(PMS2):c.538-1G>C

SNV
Germline

Chr7:5999276

Pathogenic/Likely pathogenic

Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 4
Condition: not provided
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA153242095

rs_988423880

9 SubmittersRCV000500977 RCV000772161 RCV000818274 RCV001523839 RCV003126761 RCV003449416 RCV004806377

NM_000535.7(PMS2):c.299A>G (p.Gln100Arg)

SNV
Germline/somatic

Chr7:6003744

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA366744629

rs_747771951

5 SubmittersRCV000758690 RCV001857068 RCV001355159 RCV002438213

NM_000251.3(MSH2):c.43G>A (p.Ala15Thr)

SNV
Germline

Chr2:47403234

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728542

rs_1183892581

5 SubmittersRCV000630170 RCV001764503 RCV002329207 RCV003470639

NM_000251.3(MSH2):c.416A>G (p.Asn139Ser)

SNV
Germline

Chr2:47410143

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730427

rs_1553350676

4 SubmittersRCV000505944 RCV001065279 RCV001182958 RCV004003549

NM_000251.3(MSH2):c.1331G>A (p.Arg444His)

SNV
Germline

Chr2:47445602

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA346724650

rs_557339938

8 SubmittersRCV000541857 RCV000572189 RCV000986669 RCV004003546 RCV005000053 RCV006273846

NM_000251.3(MSH2):c.2014A>G (p.Met672Val)

SNV
Germline

Chr2:47476375

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA033352

rs_763690339

5 SubmittersRCV000508402 RCV001865650 RCV003159641 RCV004003547

NM_000251.3(MSH2):c.2152C>G (p.Gln718Glu)

SNV
Germline

Chr2:47476513

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346729326

rs_587779139

6 SubmittersRCV000508020 RCV000776722 RCV001539955 RCV004003548 RCV002527341

NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu)

SNV
Germline/somatic

Chr2:47478289

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA346729718

rs_63751155

6 SubmittersRCV000507559 RCV001219215 RCV001250042 RCV003449448 RCV002431464 RCV005356029

NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg)

SNV
Germline

Chr2:47478312

Likely pathogenic

Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA346729765

rs_63751119

7 SubmittersRCV000508314 RCV000680198 RCV001014940 RCV003593976 RCV005407662

NM_000179.3(MSH6):c.105C>T (p.Ala35=)

SNV
Germline

Chr2:47783338

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46687949

rs_998365223

7 SubmittersRCV000506243 RCV000630399 RCV000772631 RCV005421961 RCV004806382

NM_000179.3(MSH6):c.1281C>T (p.Tyr427=)

SNV
Germline

Chr2:47799264

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA426120892

rs_1553412720

6 SubmittersRCV001183219 RCV000508339 RCV001547114 RCV005421962 RCV002524905

NM_000179.3(MSH6):c.2677C>G (p.Leu893Val)

SNV
Germline

Chr2:47800660

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069423

rs_370754319

5 SubmittersRCV000506119 RCV000794150 RCV001179711 RCV004003551

NM_000179.3(MSH6):c.3809T>C (p.Met1270Thr)

SNV
Germline

Chr2:47806459

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA072173

rs_777617756

5 SubmittersRCV000506284 RCV000570265 RCV001298248 RCV004568650 RCV004802111

NM_000249.4(MLH1):c.92C>T (p.Ala31Val)

SNV
Germline

Chr3:36993639

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352061041

rs_730882127

6 SubmittersRCV000508078 RCV000589969 RCV001296780 RCV002376937 RCV004003545

NM_000249.4(MLH1):c.454-10T>G

SNV
Germline

Chr3:37008804

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA542218413

rs_1260098414

4 SubmittersRCV000506460 RCV001392293 RCV004003543 RCV005421960

NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)

SNV
Germline

Chr7:5997420

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366743790

rs_1458321358

9 SubmittersRCV000507540 RCV000530268 RCV000662813 RCV001026032 RCV004003553

NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)

SNV
Germline

Chr7:6003981

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA366744765

rs_730881919

12 SubmittersRCV000505890 RCV000550672 RCV000662778 RCV001182957 RCV002305497 RCV003114636 RCV003159643

NM_000179.3(MSH6):c.1795G>T (p.Gly599Ter)

SNV
Germline

Chr2:47799778

Pathogenic

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346749316

rs_756043669

4 SubmittersRCV000507042 RCV000657686 RCV004943939 RCV003449451

NM_000249.4(MLH1):c.836T>G (p.Val279Gly)

SNV
Germline

Chr3:37017551

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA352046128

rs_1553646683

5 SubmittersRCV000515776 RCV001344438 RCV002438241

NM_000251.3(MSH2):c.645+2T>C

SNV
Germline

Chr2:47410374

Pathogenic/Likely pathogenic

Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346731228

rs_876658996

7 SubmittersRCV000520097 RCV000606441 RCV001378494 RCV002367733 RCV004568669

NM_000251.3(MSH2):c.646-13T>C

SNV
Germline

Chr2:47412401

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA039794

rs_761205332

7 SubmittersRCV000521261 RCV000583363 RCV001356013 RCV001553591 RCV002060268 RCV004003605 RCV005248087

NM_000251.3(MSH2):c.999T>G (p.Cys333Trp)

SNV
Germline

Chr2:47416352

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733125

rs_1553353167

3 SubmittersRCV000521057 RCV002384007 RCV003449485

NM_000251.3(MSH2):c.1153C>G (p.Pro385Ala)

SNV
Germline

Chr2:47429818

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46702663

rs_763985746

8 SubmittersRCV000519754 RCV000547472 RCV001010007 RCV004568666 RCV004701594 RCV004806387

NM_000179.3(MSH6):c.931A>G (p.Lys311Glu)

SNV
Germline

Chr2:47798914

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346740754

rs_1323987464

4 SubmittersRCV000520147 RCV001066209 RCV002376964 RCV004806388

NM_000179.3(MSH6):c.1789G>T (p.Glu597Ter)

SNV
Germline

Chr2:47799772

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346749280

rs_1553413178

4 SubmittersRCV000523447 RCV001036493 RCV003449482 RCV005638499

NM_000179.3(MSH6):c.3797A>G (p.His1266Arg)

SNV
Germline

Chr2:47806354

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346761190

rs_760023025

6 SubmittersRCV000522115 RCV000687772 RCV000777177 RCV004003593 RCV005426092

NM_000249.4(MLH1):c.753C>G (p.Tyr251Ter)

SNV
Germline

Chr3:37014507

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352044147

rs_63750310

4 SubmittersRCV000519051 RCV002395243 RCV003449476 RCV005367366

NM_000249.4(MLH1):c.827T>C (p.Ile276Thr)

SNV
Germline

Chr3:37017542

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352046046

rs_1253275403

5 SubmittersRCV000522950 RCV000707270 RCV001027361 RCV004003606

NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)

SNV
Germline/somatic

Chr3:37040294

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA352060789

rs_63751596

8 SubmittersRCV000520479 RCV001046224 RCV001012628 RCV001249931 RCV001093684 RCV003470652 RCV005398752

NM_000249.4(MLH1):c.1669G>A (p.Glu557Lys)

SNV
Germline

Chr3:37042269

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352061858

rs_63751244

6 SubmittersRCV000522677 RCV000548884 RCV000776165 RCV003470648 RCV004003592

NM_000535.7(PMS2):c.2275+1G>A

SNV
Germline

Chr7:5978595

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366736386

rs_1554294393

6 SubmittersRCV000520083 RCV000573476 RCV003449478 RCV006463233

NM_000535.7(PMS2):c.1987G>T (p.Glu663Ter)

SNV
Germline

Chr7:5986778

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366738938

rs_1554297061

4 SubmittersRCV000521070 RCV000574914 RCV003449484 RCV006556164

NM_000535.7(PMS2):c.3G>A (p.Met1Ile)

SNV
Germline

Chr7:6009017

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366745251

rs_1554309086

5 SubmittersRCV000519055 RCV000535555 RCV000569016 RCV003449491

NM_000251.3(MSH2):c.222T>A (p.Asn74Lys)

SNV
Germline

Chr2:47408411

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346729470

rs_1553350075

3 SubmittersRCV000537127 RCV004003744 RCV003372741

NM_000251.3(MSH2):c.795T>G (p.Val265=)

SNV
Germline

Chr2:47414271

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA040664

rs_63749903

4 SubmittersRCV000531880 RCV002420349 RCV005248167 RCV006458480

NM_000251.3(MSH2):c.808C>G (p.Leu270Val)

SNV
Germline

Chr2:47414284

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA040694

rs_758403441

6 SubmittersRCV000544343 RCV001764526 RCV002289719 RCV004023722 RCV005861127

NM_000251.3(MSH2):c.951T>A (p.Val317=)

SNV
Germline

Chr2:47416304

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA425972522

rs_1553353105

7 SubmittersRCV000557307 RCV000563808 RCV004003757 RCV005248169 RCV006273861

NM_000251.3(MSH2):c.35A>C (p.Glu12Ala)

SNV
Germline

Chr2:47403226

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA346728510

rs_1553348722

4 SubmittersRCV000530789 RCV003362822 RCV003470713 RCV006268839

NM_000251.3(MSH2):c.54C>T (p.Gly18=)

SNV
Germline

Chr2:47403245

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426119374

rs_63750777

6 SubmittersRCV000544727 RCV000615504 RCV001024186 RCV005248163

NM_000251.3(MSH2):c.70C>G (p.Gln24Glu)

SNV
Germline

Chr2:47403261

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA346728646

rs_587779976

4 SubmittersRCV000560638 RCV000777268 RCV005398773

NM_000251.3(MSH2):c.166G>C (p.Glu56Gln)

SNV
Germline

Chr2:47403357

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728981

rs_587779102

6 SubmittersRCV000525199 RCV001012654 RCV001260343 RCV004003737 RCV003459177

NM_000251.3(MSH2):c.1394A>G (p.Asn465Ser)

SNV
Germline

Chr2:47463038

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346726685

rs_1487094949

5 SubmittersRCV000557128 RCV000570076 RCV001798872 RCV003459175

NM_000251.3(MSH2):c.1405C>G (p.Leu469Val)

SNV
Germline

Chr2:47463049

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA028542

rs_780702096

8 SubmittersRCV000550095 RCV000575666 RCV001755785 RCV004527635 RCV004003733

NM_000251.3(MSH2):c.911T>C (p.Ile304Thr)

SNV
Germline

Chr2:47414387

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46684227

rs_1021303606

6 SubmittersRCV000540995 RCV001550959 RCV001185309 RCV004527636 RCV004806415

NM_000251.3(MSH2):c.942+5A>C

SNV
Germline

Chr2:47414423

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA658655718

rs_769242733

3 SubmittersRCV000555844 RCV000564397 RCV004003756

NM_000251.3(MSH2):c.2303A>T (p.Glu768Val)

SNV
Germline

Chr2:47478364

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729861

rs_1553369720

5 SubmittersRCV000535846 RCV000583359 RCV001770404 RCV005248151

NM_000251.3(MSH2):c.2407A>G (p.Thr803Ala)

SNV
Germline

Chr2:47478468

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46705221

rs_63751168

6 SubmittersRCV000543029 RCV000588000 RCV001015432 RCV001030715 RCV004003747

NM_000251.3(MSH2):c.1267A>G (p.Lys423Glu)

SNV
Germline

Chr2:47429932

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027338

rs_201059765

6 SubmittersRCV000547106 RCV000774563 RCV005056137 RCV004003729

NM_000251.3(MSH2):c.2412A>G (p.Ala804=)

SNV
Germline

Chr2:47478473

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730217

rs_141523959

5 SubmittersRCV000559989 RCV002456045 RCV004003748 RCV005000122 RCV005248152

NM_000251.3(MSH2):c.1367C>T (p.Thr456Ile)

SNV
Germline

Chr2:47445638

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA028117

rs_777963115

5 SubmittersRCV000532242 RCV000562767 RCV004003732 RCV004568716

NM_000251.3(MSH2):c.2684C>T (p.Pro895Leu)

SNV
Germline

Chr2:47482828

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731558

rs_786203553

8 SubmittersRCV000539916 RCV000561718 RCV001357777 RCV003459180 RCV003441913 RCV004806413

NM_000251.3(MSH2):c.1661+2T>C

SNV
Germline

Chr2:47466810

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728023

rs_1553366680

4 SubmittersRCV000559692 RCV002404370 RCV002509421 RCV003449535

NM_000251.3(MSH2):c.1783C>T (p.Leu595Phe)

SNV
Germline

Chr2:47475048

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Inherited polyposis and early onset colorectal cancer - germline testing
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728296

rs_1553368514

6 SubmittersRCV000542666 RCV002404371 RCV003459178 RCV004764851 RCV004806409

NM_000179.3(MSH6):c.83C>T (p.Ser28Leu)

SNV
Germline

Chr2:47783316

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073484

rs_750949635

6 SubmittersRCV000542898 RCV000567017 RCV003478110 RCV004003705

NM_000179.3(MSH6):c.229C>T (p.Arg77Trp)

SNV
Germline

Chr2:47783462

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA068784

rs_745442468

7 SubmittersRCV000525000 RCV000561728 RCV000759131 RCV003153676 RCV004003675 RCV004568705

NM_000179.3(MSH6):c.232A>G (p.Arg78Gly)

SNV
Germline

Chr2:47783465

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346735100

rs_1553408408

7 SubmittersRCV000555505 RCV000580387 RCV001544900 RCV003459168 RCV004003676

NM_000179.3(MSH6):c.336C>A (p.Asn112Lys)

SNV
Germline

Chr2:47791002

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346736958

rs_1182444882

8 SubmittersRCV000537161 RCV000575269 RCV000781599 RCV004003690 RCV005000117

NM_000179.3(MSH6):c.382C>T (p.Arg128Cys)

SNV
Germline

Chr2:47791048

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346737052

rs_1251938412

5 SubmittersRCV000551898 RCV000776879 RCV003153678 RCV003226937

NM_000179.3(MSH6):c.458-5T>C

SNV
Germline

Chr2:47795889

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA658655684

rs_1553411388

3 SubmittersRCV000545597 RCV002341253 RCV005421998

NM_000251.3(MSH2):c.2563C>T (p.Gln855Ter)

SNV
Germline

Chr2:47480800

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730930

rs_1553370404

6 SubmittersRCV000526846 RCV002431520 RCV003320673 RCV003449540

NM_000251.3(MSH2):c.2582A>T (p.Gln861Leu)

SNV
Germline

Chr2:47480819

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346731004

rs_1313098392

5 SubmittersRCV000547670 RCV001016009 RCV004003749 RCV005620957

NM_000251.3(MSH2):c.2661C>G (p.Phe887Leu)

SNV
Germline

Chr2:47482805

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731442

rs_1290935051

7 SubmittersRCV000526536 RCV001193289 RCV002431522 RCV002289718 RCV004003750

NM_000179.3(MSH6):c.120C>G (p.Ala40=)

SNV
Germline

Chr2:47783353

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA067335

rs_777101467

6 SubmittersRCV000551703 RCV000568501 RCV004800446 RCV004806395 RCV005421967

NM_000179.3(MSH6):c.973C>T (p.Gln325Ter)

SNV
Germline

Chr2:47798956

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346740973

rs_1553412397

3 SubmittersRCV000546692 RCV002384034 RCV004592547

NM_000251.3(MSH2):c.14C>G (p.Pro5Arg)

SNV
Germline

Chr2:47403205

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728432

rs_56170584

6 SubmittersRCV000546654 RCV000579789 RCV002274057 RCV004003736

NM_000251.3(MSH2):c.16A>G (p.Lys6Glu)

SNV
Germline

Chr2:47403207

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA030563

rs_777351049

8 SubmittersRCV000538201 RCV000562322 RCV000759824 RCV004003738 RCV004568717

NM_000251.3(MSH2):c.464T>G (p.Val155Gly)

SNV
Germline

Chr2:47410191

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730532

rs_876658188

7 SubmittersRCV000527224 RCV000562713 RCV000781569 RCV001284653 RCV004806414

NM_000179.3(MSH6):c.746G>C (p.Arg249Thr)

SNV
Germline

Chr2:47798729

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA346740105

rs_752135996

5 SubmittersRCV000552704 RCV000777228 RCV004003703 RCV006268838

NM_000251.3(MSH2):c.613G>C (p.Glu205Gln)

SNV
Germline

Chr2:47410340

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA46678574

rs_63749984

6 SubmittersRCV000526049 RCV000579804 RCV001584241 RCV004003753 RCV005248165

NM_000179.3(MSH6):c.3159T>A (p.Cys1053Ter)

SNV
Germline

Chr2:47801142

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756727

rs_767021188

2 SubmittersRCV000545511 RCV005620956

NM_000179.3(MSH6):c.3328C>A (p.Pro1110Thr)

SNV
Germline

Chr2:47803575

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA070657

rs_374070511

6 SubmittersRCV000546830 RCV000588861 RCV001186603 RCV004003689 RCV004568708

NM_000179.3(MSH6):c.3647-4A>C

SNV
Germline

Chr2:47806200

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA532705780

rs_1464965737

4 SubmittersRCV000559786 RCV002456043 RCV004003696 RCV005426105

NM_000251.3(MSH2):c.1354G>A (p.Glu452Lys)

SNV
Germline

Chr2:47445625

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46660139

rs_267607954

6 SubmittersRCV000556329 RCV000567928 RCV002476086 RCV003478112 RCV004003731

NM_000179.3(MSH6):c.1168G>T (p.Asp390Tyr)

SNV
Germline

Chr2:47799151

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346742303

rs_147737737

4 SubmittersRCV000530454 RCV001185230 RCV004003659

NM_000251.3(MSH2):c.703A>G (p.Lys235Glu)

SNV
Germline

Chr2:47412471

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA040162

rs_749442037

6 SubmittersRCV000559155 RCV001025957 RCV001770405 RCV002248760 RCV004003754

NM_000251.3(MSH2):c.1771C>A (p.Pro591Thr)

SNV
Germline

Chr2:47475036

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728271

rs_951988481

5 SubmittersRCV000534975 RCV000561432 RCV001572545 RCV004806408

NM_000251.3(MSH2):c.904T>A (p.Leu302Met)

SNV
Germline

Chr2:47414380

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346732951

rs_876660115

7 SubmittersRCV000527981 RCV000573534 RCV001800735 RCV003470714 RCV004003755

NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln)

SNV
Germline/somatic

Chr2:47475127

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA031795

rs_759263820

7 SubmittersRCV000549787 RCV000575117 RCV000758651 RCV000663143 RCV001764525

NM_000179.3(MSH6):c.3977T>G (p.Met1326Arg)

SNV
Germline

Chr2:47806627

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346761572

rs_757089977

5 SubmittersRCV000527592 RCV000579957 RCV001764524 RCV004003699

NM_000251.3(MSH2):c.1440A>G (p.Glu480=)

SNV
Germline

Chr2:47463084

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA028675

rs_138049198

7 SubmittersRCV000570348 RCV000679291 RCV001078541 RCV004003735 RCV005248132

NM_000251.3(MSH2):c.1476G>A (p.Met492Ile)

SNV
Germline

Chr2:47463120

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346727075

rs_1553365792

4 SubmittersRCV000553969 RCV003159731 RCV003459176 RCV004806407

NM_000251.3(MSH2):c.1781C>T (p.Thr594Ile)

SNV
Germline

Chr2:47475046

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728292

rs_1553368510

6 SubmittersRCV000525389 RCV000573132 RCV001139481 RCV004003739

NM_000251.3(MSH2):c.1792G>A (p.Val598Met)

SNV
Germline

Chr2:47475057

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA031369

rs_778152746

7 SubmittersRCV000570637 RCV000588090 RCV000556013 RCV003470712

NM_000251.3(MSH2):c.2201C>G (p.Ser734Cys)

SNV
Germline

Chr2:47476562

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA346729424

rs_1553369204

6 SubmittersRCV000532179 RCV000568631 RCV001755787 RCV004003742 RCV004596236

NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys)

SNV
Germline

Chr2:47475157

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728562

rs_1361816581

8 SubmittersRCV000547904 RCV000568306 RCV001572130 RCV002481753 RCV004003740 RCV004568718

NM_000179.3(MSH6):c.2409C>G (p.Asp803Glu)

SNV
Germline

Chr2:47800392

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA346753965

rs_1434270332

6 SubmittersRCV000547711 RCV001015434 RCV002282203 RCV004806398 RCV005398769

NM_000251.3(MSH2):c.2376T>A (p.Asn792Lys)

SNV
Germline

Chr2:47478437

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730082

rs_1281667531

5 SubmittersRCV000553342 RCV000679305 RCV002456044 RCV004003745

NM_000251.3(MSH2):c.2381T>A (p.Ile794Lys)

SNV
Germline

Chr2:47478442

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346730102

rs_1553369781

5 SubmittersRCV000554251 RCV000565463 RCV004003746 RCV005000121

NM_000179.3(MSH6):c.2894G>C (p.Arg965Thr)

SNV
Germline

Chr2:47800877

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346756080

rs_1553414252

5 SubmittersRCV000532698 RCV002438285 RCV003228942 RCV005421980

NM_000251.3(MSH2):c.2504A>G (p.Asn835Ser)

SNV
Germline

Chr2:47480741

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA036330

rs_779729016

8 SubmittersRCV000550167 RCV000567964 RCV003459179 RCV004806410 RCV005639136

NM_000179.3(MSH6):c.3303G>T (p.Lys1101Asn)

SNV
Germline

Chr2:47803550

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070623

rs_370353868

6 SubmittersRCV000553191 RCV001019819 RCV001200628 RCV004806400

NM_000179.3(MSH6):c.118G>A (p.Ala40Thr)

SNV
Germline

Chr2:47783351

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346734863

rs_754231971

9 SubmittersRCV000543486 RCV000581858 RCV000662712 RCV000781584 RCV004791518 RCV004806394

NM_000179.3(MSH6):c.234A>G (p.Arg78=)

SNV
Germline

Chr2:47783467

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426120860

rs_1553408414

3 SubmittersRCV000544766 RCV000563986 RCV005421975

NM_000179.3(MSH6):c.3394G>C (p.Val1132Leu)

SNV
Germline

Chr2:47803641

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA070770

rs_781676597

6 SubmittersRCV000525940 RCV000579610 RCV003225079 RCV004003691 RCV004568709

NM_000179.3(MSH6):c.153C>G (p.Ser51Arg)

SNV
Germline

Chr2:47783386

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA067823

rs_762061869

5 SubmittersRCV000526938 RCV002404365 RCV003222015 RCV004003664 RCV004568701

NM_000179.3(MSH6):c.3438+5C>G

SNV
Germline

Chr2:47803690

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA070850

rs_777420424

4 SubmittersRCV000534178 RCV001811027 RCV002456041 RCV005421988

NM_000179.3(MSH6):c.3556+6T>G

SNV
Germline

Chr2:47805033

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071282

rs_767210715

3 SubmittersRCV000544799 RCV001190816 RCV004003695

NM_000179.3(MSH6):c.3646+2T>C

SNV
Germline

Chr2:47805709

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760643

rs_1553332776

5 SubmittersRCV000530070 RCV000575306 RCV003449510

NM_000179.3(MSH6):c.733A>G (p.Ile245Val)

SNV
Germline

Chr2:47798716

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346740050

rs_762168786

4 SubmittersRCV000535308 RCV000571023 RCV004003702

NM_000179.3(MSH6):c.842G>T (p.Gly281Val)

SNV
Germline

Chr2:47798825

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073491

rs_773445382

4 SubmittersRCV000531362 RCV000579639 RCV004003706

NM_000179.3(MSH6):c.1423C>T (p.Gln475Ter)

SNV
Germline

Chr2:47799406

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346745416

rs_1553412835

6 SubmittersRCV000551310 RCV001189638 RCV003449501

NM_000179.3(MSH6):c.3904G>A (p.Ala1302Thr)

SNV
Germline

Chr2:47806554

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA346761429

rs_1553333561

6 SubmittersRCV000542091 RCV000574694 RCV000708895 RCV003470706

NM_000179.3(MSH6):c.3942A>G (p.Gln1314=)

SNV
Germline

Chr2:47806592

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA072347

rs_768042560

6 SubmittersRCV000537305 RCV000774617 RCV001140557

NM_000179.3(MSH6):c.945T>G (p.Ser315=)

SNV
Germline

Chr2:47798928

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426120632

rs_761581941

10 SubmittersRCV000562002 RCV000827332 RCV000781580 RCV001079303 RCV004003707 RCV005422006

NM_000179.3(MSH6):c.1063G>C (p.Gly355Arg)

SNV
Germline

Chr2:47799046

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346741623

rs_587778531

4 SubmittersRCV000542905 RCV003352906 RCV004003657

NM_000179.3(MSH6):c.1970A>G (p.Gln657Arg)

SNV
Germline

Chr2:47799953

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346750602

rs_1459883720

6 SubmittersRCV000534112 RCV000569127 RCV003488656 RCV004003668

NM_000179.3(MSH6):c.2584C>T (p.Leu862=)

SNV
Germline

Chr2:47800567

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121627

rs_1187393388

6 SubmittersRCV001083803 RCV000828065 RCV000777217 RCV005421977

NM_000179.3(MSH6):c.2599G>A (p.Val867Ile)

SNV
Germline

Chr2:47800582

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA069233

rs_745954217

7 SubmittersRCV000526734 RCV000567854 RCV004003680 RCV004568706 RCV005000115

NM_000179.3(MSH6):c.2146A>G (p.Thr716Ala)

SNV
Germline

Chr2:47800129

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
MSH6-related disorder
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA068496

rs_749711246

9 SubmittersRCV000550483 RCV000572538 RCV001548306 RCV004003671 RCV004740307 RCV005367375

NM_000179.3(MSH6):c.2653A>G (p.Lys885Glu)

SNV
Germline

Chr2:47800636

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Endometrial carcinoma
Lynch syndrome
Condition: not provided
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA346755166

rs_587782593

9 SubmittersRCV000529411 RCV000581939 RCV001000818 RCV003459169 RCV004003681 RCV004546513 RCV005357548

NM_000179.3(MSH6):c.2732G>A (p.Arg911Gln)

SNV
Germline

Chr2:47800715

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Endometrial carcinoma
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA069556

rs_761622304

9 SubmittersRCV000560703 RCV000566003 RCV000708881 RCV001558112 RCV003459170 RCV005034080

NM_000179.3(MSH6):c.3014G>T (p.Arg1005Leu)

SNV
Germline

Chr2:47800997

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346756426

rs_587782324

5 SubmittersRCV000536357 RCV001805147 RCV002490940 RCV005600968

NM_000179.3(MSH6):c.2741C>T (p.Thr914Ile)

SNV
Germline

Chr2:47800724

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 3
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346755398

rs_1553414094

5 SubmittersRCV000536613 RCV002289716 RCV002438282 RCV004003682 RCV003478107

NM_000179.3(MSH6):c.3796C>T (p.His1266Tyr)

SNV
Germline

Chr2:47806353

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA46719551

rs_972387746

7 SubmittersRCV000548179 RCV001021161 RCV004003698 RCV005027625 RCV005869590

NM_000179.3(MSH6):c.3505C>G (p.Pro1169Ala)

SNV
Germline

Chr2:47804976

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA46717040

rs_904846776

9 SubmittersRCV000543217 RCV000572853 RCV000588973 RCV003470704 RCV004003694 RCV005421991

NM_000249.4(MLH1):c.1731+2T>C

SNV
Germline/somatic

Chr3:37042333

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA352062181

rs_267607856

4 SubmittersRCV000550081 RCV000758580 RCV002413436 RCV005901231

NM_000249.4(MLH1):c.1732-2A>C

SNV
Germline

Chr3:37047517

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352064122

rs_267607852

4 SubmittersRCV000542173 RCV002268141 RCV002284405 RCV002404368

NM_000249.4(MLH1):c.46G>C (p.Val16Leu)

SNV
Germline

Chr3:36993593

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA036168

rs_776643257

8 SubmittersRCV000554111 RCV000565039 RCV001821471 RCV003156248 RCV004003722 RCV004568713 RCV004787841

NM_000249.4(MLH1):c.1541A>G (p.Asn514Ser)

SNV
Germline

Chr3:37028915

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA029253

rs_772245091

8 SubmittersRCV000526935 RCV000568851 RCV000987178 RCV001564055 RCV004003712

NM_000249.4(MLH1):c.2016T>G (p.Cys672Trp)

SNV
Germline

Chr3:37048930

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352067828

rs_1312172811

5 SubmittersRCV000553559 RCV000562503 RCV003470707 RCV004003718

NM_000249.4(MLH1):c.1410-2A>G

SNV
Germline

Chr3:37028782

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA028698

rs_746536721

10 SubmittersRCV000528881 RCV000987177 RCV001011401 RCV003228943 RCV004806403

NM_000249.4(MLH1):c.1577A>G (p.His526Arg)

SNV
Germline

Chr3:37040204

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352059778

rs_1304802474

4 SubmittersRCV000558495 RCV000775867 RCV004003714

NM_000249.4(MLH1):c.670G>A (p.Val224Ile)

SNV
Germline

Chr3:37012092

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Muir-Torré syndrome
Lynch syndrome
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA352042844

rs_1553644251

7 SubmittersRCV000545737 RCV000583889 RCV001553068 RCV003330748 RCV004003724 RCV003470709

NM_000535.7(PMS2):c.1679G>A (p.Cys560Tyr)

SNV
Germline

Chr7:5987086

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA045087

rs_757989905

5 SubmittersRCV000555211 RCV000574607 RCV003231641 RCV004003760

NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter)

SNV
Germline

Chr7:5987614

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366742692

rs_1554298087

3 SubmittersRCV000549263 RCV002350173 RCV003449543

NM_000535.7(PMS2):c.994G>A (p.Val332Ile)

SNV
Germline/somatic

Chr7:5989950

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366743032

rs_1236095389

9 SubmittersRCV000545777 RCV000590366 RCV000775689 RCV000758684 RCV004568726

NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr)

SNV
Germline

Chr7:5997374

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 4
Lynch syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA051535

rs_775445157

9 SubmittersRCV000556803 RCV000564413 RCV000781740 RCV001568558 RCV003338645 RCV004003768 RCV005398776

NM_000535.7(PMS2):c.652G>A (p.Gly218Ser)

SNV
Germline

Chr7:5999161

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366743913

rs_878854055

6 SubmittersRCV000547672 RCV001025376 RCV001290677 RCV001775843 RCV004003767

NM_000535.7(PMS2):c.2006+1G>A

SNV
Germline

Chr7:5986758

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366738839

rs_1554297040

3 SubmittersRCV000552459 RCV002420350 RCV003449545

NM_000535.7(PMS2):c.1219A>G (p.Arg407Gly)

SNV
Germline

Chr7:5987546

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA042611

rs_776725795

5 SubmittersRCV000551665 RCV001010398 RCV000987835 RCV004003759

NM_000535.7(PMS2):c.220G>A (p.Gly74Arg)

SNV
Germline/somatic

Chr7:6004002

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA366744818

rs_1554304979

3 SubmittersRCV000545520 RCV000758691 RCV001014799

NM_000535.7(PMS2):c.2275+1G>T

SNV
Germline

Chr7:5978595

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366736382

rs_1554294393

3 SubmittersRCV000528011 RCV003449547 RCV005000125

NM_000535.7(PMS2):c.989-5C>T

SNV
Germline

Chr7:5989960

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA572822673

rs_1401221727

4 SubmittersRCV000566513 RCV001400133 RCV005357552 RCV005426116

NM_000535.7(PMS2):c.327A>G (p.Glu109=)

SNV
Germline

Chr7:6003716

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453647905

rs_1554304637

3 SubmittersRCV001424243 RCV004023726 RCV005426111

NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter)

SNV
Germline

Chr7:5977680

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366735869

rs_1554293920

3 SubmittersRCV000543414 RCV002448606 RCV003449548

NM_000251.3(MSH2):c.19G>C (p.Glu7Gln)

SNV
Germline

Chr2:47403210

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728450

rs_375561490

4 SubmittersRCV000561430 RCV002528990 RCV003151793 RCV003459386

NM_000251.3(MSH2):c.105C>A (p.Arg35=)

SNV
Germline

Chr2:47403296

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA426119404

rs_775554736

9 SubmittersRCV000575417 RCV000979908 RCV002510922 RCV004000864 RCV005248239 RCV006273894

NM_000251.3(MSH2):c.323G>T (p.Gly108Val)

SNV
Germline

Chr2:47408512

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729713

rs_1183145967

7 SubmittersRCV000572927 RCV001575414 RCV001858103 RCV003459289 RCV003320690 RCV004000847

NM_000251.3(MSH2):c.34G>C (p.Glu12Gln)

SNV
Germline

Chr2:47403225

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46666533

rs_917968387

4 SubmittersRCV000574098 RCV000818613 RCV004001044

NM_000251.3(MSH2):c.124T>C (p.Phe42Leu)

SNV
Germline

Chr2:47403315

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728855

rs_1553348804

2 SubmittersRCV000563450 RCV004787946

NM_000251.3(MSH2):c.161C>T (p.Ala54Val)

SNV
Germline

Chr2:47403352

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Condition: not provided
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA029814

rs_768661914

8 SubmittersRCV000560975 RCV001867892 RCV003447542 RCV004586803 RCV005000286 RCV006438427

NM_000251.3(MSH2):c.317G>C (p.Arg106Thr)

SNV
Germline

Chr2:47408506

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729684

rs_41295286

4 SubmittersRCV000567001 RCV000793779 RCV004001043

NM_000251.3(MSH2):c.398A>G (p.Asp133Gly)

SNV
Germline

Chr2:47410125

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46677666

rs_984353312

4 SubmittersRCV000563996 RCV001324767 RCV004001204

NM_000251.3(MSH2):c.443T>A (p.Val148Glu)

SNV
Germline

Chr2:47410170

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730475

rs_1553350714

3 SubmittersRCV000575907 RCV001858299 RCV003451249

NM_000251.3(MSH2):c.464T>C (p.Val155Ala)

SNV
Germline

Chr2:47410191

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730530

rs_876658188

7 SubmittersRCV000566316 RCV000764422 RCV000808811 RCV001551071 RCV003459360 RCV004001041

NM_000251.3(MSH2):c.460G>A (p.Ala154Thr)

SNV
Germline

Chr2:47410187

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038871

rs_759712763

5 SubmittersRCV000568245 RCV000630061 RCV001584374 RCV004000906

NM_000251.3(MSH2):c.640A>G (p.Arg214Gly)

SNV
Germline

Chr2:47410367

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731212

rs_1553350980

4 SubmittersRCV000563062 RCV001221191 RCV004000856

NM_000251.3(MSH2):c.1561T>A (p.Tyr521Asn)

SNV
Germline

Chr2:47466708

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346727807

rs_1553366562

5 SubmittersRCV000562344 RCV001865732 RCV003126824 RCV004000900

NM_000251.3(MSH2):c.27G>A (p.Leu9=)

SNV
Germline

Chr2:47403218

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426119361

rs_1553348705

7 SubmittersRCV000573752 RCV000943982 RCV001552391 RCV004000861 RCV005248233

NM_000251.3(MSH2):c.624A>T (p.Gly208=)

SNV
Germline

Chr2:47410351

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426119611

rs_786202651

5 SubmittersRCV000571775 RCV000805974 RCV002476237 RCV005248276

NM_000251.3(MSH2):c.1601G>T (p.Arg534Leu)

SNV
Germline

Chr2:47466748

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Ovarian cancer
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA029754

rs_587778523

8 SubmittersRCV000567489 RCV000662462 RCV001039308 RCV003153734 RCV004000846 RCV005367407

NM_000251.3(MSH2):c.1625T>C (p.Val542Ala)

SNV
Germline

Chr2:47466772

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346727945

rs_1553366630

4 SubmittersRCV000570016 RCV003459387 RCV003767224

NM_000251.3(MSH2):c.763A>C (p.Ser255Arg)

SNV
Germline

Chr2:47412531

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346732397

rs_761529282

5 SubmittersRCV000562138 RCV001222036 RCV004000851 RCV004569110

NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter)

SNV
Germline

Chr2:47429889

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346734084

rs_63750132

3 SubmittersRCV000569136 RCV000780440 RCV003451284

NM_000251.3(MSH2):c.75C>T (p.Gly25=)

SNV
Germline

Chr2:47403266

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426119383

rs_1465620610

4 SubmittersRCV000573034 RCV001035945 RCV005248275

NM_000251.3(MSH2):c.1229G>T (p.Gly410Val)

SNV
Germline

Chr2:47429894

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA346734113

rs_1354753753

5 SubmittersRCV000567171 RCV000812381 RCV004001031 RCV005357689

NM_000251.3(MSH2):c.877A>G (p.Thr293Ala)

SNV
Germline

Chr2:47414353

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346732890

rs_1296650088

8 SubmittersRCV000565509 RCV000697645 RCV001653929 RCV003459357 RCV004001032

NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn)

SNV
Germline

Chr2:47466808

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA030195

rs_63750597

6 SubmittersRCV000570315 RCV000802215 RCV001310202 RCV002497211 RCV005898523

NM_000251.3(MSH2):c.1703C>G (p.Thr568Arg)

SNV
Germline

Chr2:47471006

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728123

rs_1285862035

4 SubmittersRCV000569949 RCV001359194 RCV004000858

NM_000251.3(MSH2):c.992A>G (p.Asn331Ser)

SNV
Germline

Chr2:47416345

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
not specified

Criteria Provided
Conflicting Classifications

CA042047

rs_779673318

7 SubmittersRCV000572560 RCV000708829 RCV000629913 RCV002483525 RCV003320694

NM_000251.3(MSH2):c.1679A>T (p.Asn560Ile)

SNV
Germline

Chr2:47470982

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728069

rs_1429353441

4 SubmittersRCV000567917 RCV000685519 RCV004001035

NM_000251.3(MSH2):c.1681G>T (p.Glu561Ter)

SNV
Germline

Chr2:47470984

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728073

rs_63750328

2 SubmittersRCV000571761 RCV003451283

NM_000251.3(MSH2):c.136C>T (p.His46Tyr)

SNV
Germline

Chr2:47403327

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728894

rs_1553348821

3 SubmittersRCV000573240 RCV001320849 RCV003459356

NM_000251.3(MSH2):c.1048C>T (p.Leu350Phe)

SNV
Germline

Chr2:47416401

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA026659

rs_771126636

5 SubmittersRCV000572143 RCV001317782 RCV001538787 RCV005600988

NM_000251.3(MSH2):c.183G>C (p.Gln61His)

SNV
Germline

Chr2:47403374

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA031678

rs_751082926

6 SubmittersRCV000571464 RCV000679297 RCV001858303 RCV004001042 RCV004735633

NM_000251.3(MSH2):c.211+3G>T

SNV
Germline

Chr2:47403405

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome
Gastric cancer

Criteria Provided
Conflicting Classifications

CA033928

rs_778940305

6 SubmittersRCV000574792 RCV001867893 RCV003465237 RCV004001033 RCV005898524

NM_000251.3(MSH2):c.1157A>G (p.Asp386Gly)

SNV
Germline

Chr2:47429822

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346733699

rs_1203515094

7 SubmittersRCV000569958 RCV000985791 RCV001858301 RCV003459358

NM_000251.3(MSH2):c.2039G>C (p.Arg680Pro)

SNV
Germline

Chr2:47476400

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729131

rs_1203462814

3 SubmittersRCV000568876 RCV001858298 RCV003451248

NM_000251.3(MSH2):c.2294C>T (p.Ala765Val)

SNV
Germline/somatic

Chr2:47478355

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346729845

rs_1261458082

6 SubmittersRCV000561684 RCV000698314 RCV000758591 RCV001764664

NM_000251.3(MSH2):c.2239A>G (p.Ile747Val)

SNV
Germline

Chr2:47478300

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729739

rs_1553369652

6 SubmittersRCV000561848 RCV001065224 RCV003987610 RCV004569216 RCV004806471

NM_000251.3(MSH2):c.2569A>G (p.Ile857Val)

SNV
Germline

Chr2:47480806

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA036657

rs_753459308

7 SubmittersRCV000574140 RCV000679307 RCV000694840 RCV003470822 RCV004000859

NM_000251.3(MSH2):c.2571T>G (p.Ile857Met)

SNV
Germline

Chr2:47480808

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346730953

rs_1400051085

6 SubmittersRCV000575878 RCV000780442 RCV000823779 RCV004000855 RCV006260252

NM_000251.3(MSH2):c.1355A>T (p.Glu452Val)

SNV
Germline

Chr2:47445626

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Conflicting Classifications

CA346724736

rs_1553361274

3 SubmittersRCV000573445 RCV005091383 RCV006261977

NM_000251.3(MSH2):c.1380G>C (p.Met460Ile)

SNV
Germline

Chr2:47445651

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346724829

rs_757534022

4 SubmittersRCV000574584 RCV001223400 RCV004001117 RCV005000317

NM_000251.3(MSH2):c.2458+1G>T

SNV
Germline

Chr2:47478520

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730324

rs_267608010

3 SubmittersRCV000564570 RCV000690329 RCV003451268

NM_000251.3(MSH2):c.2640T>C (p.Gly880=)

SNV
Germline

Chr2:47482784

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA425971003

rs_1368565489

10 SubmittersRCV000569433 RCV001439849 RCV001692208 RCV004000860 RCV004530598 RCV005422103

NM_000251.3(MSH2):c.1067T>A (p.Ile356Lys)

SNV
Germline

Chr2:47416420

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733264

rs_753075410

3 SubmittersRCV000563990 RCV002528140 RCV003451252

NM_000251.3(MSH2):c.1454T>C (p.Met485Thr)

SNV
Germline

Chr2:47463098

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Muir-Torré syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346726967

rs_1553365763

4 SubmittersRCV000573636 RCV001043758 RCV002497215 RCV004001118

NM_000251.3(MSH2):c.1626A>G (p.Val542=)

SNV
Germline

Chr2:47466773

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA425965615

rs_1553366635

7 SubmittersRCV000574526 RCV000630249 RCV004000848 RCV005248230 RCV005398877 RCV005243300

NM_000251.3(MSH2):c.1200C>G (p.Asn400Lys)

SNV
Germline

Chr2:47429865

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Condition: not provided
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346733945

rs_1301023135

6 SubmittersRCV000574450 RCV000819870 RCV001355796 RCV001813789 RCV004543264 RCV005601007

NM_000251.3(MSH2):c.1276+4A>G

SNV
Germline

Chr2:47429945

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA658655679

rs_1481785592

3 SubmittersRCV000563985 RCV000817820 RCV005601011

NM_000251.3(MSH2):c.1282C>G (p.His428Asp)

SNV
Germline

Chr2:47445553

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346724494

rs_1421473851

4 SubmittersRCV000570734 RCV002528137 RCV004001039

NM_000251.3(MSH2):c.1770A>C (p.Glu590Asp)

SNV
Germline

Chr2:47475035

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA031214

rs_760619442

4 SubmittersRCV000562329 RCV000696814 RCV004000863

NM_000251.3(MSH2):c.1379T>C (p.Met460Thr)

SNV
Germline

Chr2:47445650

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346724826

rs_1553361303

8 SubmittersRCV000567509 RCV000685208 RCV000759100 RCV004001116 RCV003459384

NM_000179.3(MSH6):c.257C>T (p.Thr86Ile)

SNV
Germline

Chr2:47783490

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA46688635

rs_768444916

8 SubmittersRCV000572033 RCV000629809 RCV002265801 RCV001566523 RCV003465183 RCV003316740

NM_000179.3(MSH6):c.88G>C (p.Glu30Gln)

SNV
Germline

Chr2:47783321

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346734813

rs_1445690889

4 SubmittersRCV000573405 RCV000703961 RCV004001045

NM_000179.3(MSH6):c.344T>C (p.Phe115Ser)

SNV
Germline

Chr2:47791010

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA070972

rs_781271765

5 SubmittersRCV000569512 RCV001209697 RCV004001065 RCV005427024

NM_000251.3(MSH2):c.1446A>C (p.Arg482Ser)

SNV
Germline

Chr2:47463090

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346726920

rs_1553365751

3 SubmittersRCV000571070 RCV004569139 RCV005091328

NM_000251.3(MSH2):c.1518C>A (p.Asp506Glu)

SNV
Germline

Chr2:47466665

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346727719

rs_1553366508

3 SubmittersRCV000572647 RCV000686725 RCV004806472

NM_000179.3(MSH6):c.487G>A (p.Gly163Ser)

SNV
Germline

Chr2:47795923

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073044

rs_776065389

4 SubmittersRCV000561865 RCV001062327 RCV005357692

NM_000251.3(MSH2):c.2132G>A (p.Arg711Gln)

SNV
Germline/somatic

Chr2:47476493

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Condition: not provided

Criteria Provided
Conflicting Classifications

CA034312

rs_138465383

7 SubmittersRCV000563683 RCV000758589 RCV000792263 RCV001356554 RCV001545453

NM_000251.3(MSH2):c.1619G>C (p.Ser540Thr)

SNV
Germline

Chr2:47466766

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346727934

rs_1553366622

4 SubmittersRCV000566684 RCV000795919 RCV003465283 RCV005398923

NM_000179.3(MSH6):c.988T>C (p.Ser330Pro)

SNV
Germline

Chr2:47798971

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073692

rs_770408023

4 SubmittersRCV000566160 RCV001055886 RCV003332204 RCV004001058

NM_000179.3(MSH6):c.1190A>C (p.Tyr397Ser)

SNV
Germline

Chr2:47799173

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346743347

rs_63750065

8 SubmittersRCV000568320 RCV000629931 RCV003465238 RCV004001047 RCV005398898 RCV006633928

NM_000251.3(MSH2):c.2528G>C (p.Cys843Ser)

SNV
Germline

Chr2:47480765

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730781

rs_747700106

2 SubmittersRCV000565473 RCV004001038

NM_000251.3(MSH2):c.2694A>C (p.Glu898Asp)

SNV
Germline

Chr2:47482838

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA46712554

rs_890670494

9 SubmittersRCV000569579 RCV000629815 RCV003222042 RCV004000905 RCV003987605 RCV005422146

NM_000251.3(MSH2):c.2744T>C (p.Val915Ala)

SNV
Germline

Chr2:47482888

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346731919

rs_1399941088

5 SubmittersRCV000572179 RCV000697646 RCV004000845 RCV004569109

NM_000251.3(MSH2):c.2786G>T (p.Arg929Leu)

SNV
Germline

Chr2:47482930

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346732210

rs_587779967

5 SubmittersRCV000562070 RCV000629872 RCV004527663 RCV004569218

NM_000179.3(MSH6):c.944C>G (p.Ser315Cys)

SNV
Germline

Chr2:47798927

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073607

rs_63750491

6 SubmittersRCV000566795 RCV000586030 RCV000696871 RCV004000879

NM_000179.3(MSH6):c.947G>A (p.Arg316Lys)

SNV
Germline

Chr2:47798930

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA073615

rs_562487553

5 SubmittersRCV000562657 RCV000630127 RCV004001067 RCV005398899

NM_000179.3(MSH6):c.2070C>A (p.Tyr690Ter)

SNV
Germline

Chr2:47800053

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346750796

rs_559125434

2 SubmittersRCV000573166 RCV005248240

NM_000251.3(MSH2):c.2123T>C (p.Ile708Thr)

SNV
Germline

Chr2:47476484

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346729275

rs_63750108

6 SubmittersRCV000563438 RCV000629938 RCV004000854 RCV004735632 RCV006260251

NM_000179.3(MSH6):c.1022C>G (p.Ser341Cys)

SNV
Germline

Chr2:47799005

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067038

rs_766202031

4 SubmittersRCV000568421 RCV002528146 RCV004001068

NM_000179.3(MSH6):c.2159C>T (p.Thr720Ile)

SNV
Germline

Chr2:47800142

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068511

rs_185531778

4 SubmittersRCV000570519 RCV000802427 RCV004000872

NM_000251.3(MSH2):c.2266A>G (p.Thr756Ala)

SNV
Germline

Chr2:47478327

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035125

rs_750646335

4 SubmittersRCV000565456 RCV000759112 RCV000793685 RCV004000849

NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg)

SNV
Germline

Chr2:47478342

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA346729821

rs_1060502038

4 SubmittersRCV000564777 RCV001858296 RCV003451247 RCV005240220

NM_000179.3(MSH6):c.1308C>A (p.Tyr436Ter)

SNV
Germline

Chr2:47799291

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346744333

rs_761037236

3 SubmittersRCV000573915 RCV003451255 RCV006260306

NM_000179.3(MSH6):c.220G>T (p.Gly74Ter)

SNV
Germline

Chr2:47783453

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346735083

rs_1553408388

5 SubmittersRCV000569470 RCV000695473 RCV002483526 RCV003451234 RCV003459308

NM_000179.3(MSH6):c.1696G>T (p.Gly566Ter)

SNV
Germline

Chr2:47799679

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346747546

rs_63749973

4 SubmittersRCV000574484 RCV003451270 RCV003459390 RCV005091431

NM_000179.3(MSH6):c.61A>G (p.Asn21Asp)

SNV
Germline

Chr2:47783294

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346734569

rs_1223476490

6 SubmittersRCV000575294 RCV000689038 RCV000985851 RCV001292699

NM_000179.3(MSH6):c.475G>A (p.Ala159Thr)

SNV
Germline/somatic

Chr2:47795911

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346738592

rs_1553411396

3 SubmittersRCV000565483 RCV000758664 RCV001858309

NM_000179.3(MSH6):c.2070C>T (p.Tyr690=)

SNV
Germline

Chr2:47800053

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA068440

rs_559125434

5 SubmittersRCV000565283 RCV000941244 RCV001445787 RCV005422170

NM_000179.3(MSH6):c.2075A>G (p.Lys692Arg)

SNV
Germline

Chr2:47800058

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA46710290

rs_975991506

7 SubmittersRCV000561357 RCV000698328 RCV002289777 RCV001824831 RCV002264957

NM_000179.3(MSH6):c.2604G>A (p.Met868Ile)

SNV
Germline

Chr2:47800587

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069280

rs_749508276

8 SubmittersRCV000570721 RCV000588628 RCV000692110 RCV001821659 RCV003459291 RCV004000882

NM_000179.3(MSH6):c.260+1G>C

SNV
Germline

Chr2:47783494

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346735200

rs_1553408467

3 SubmittersRCV000566260 RCV003451286 RCV003758844

NM_000179.3(MSH6):c.2161A>C (p.Arg721=)

SNV
Germline/somatic

Chr2:47800144

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121617

rs_537604099

7 SubmittersRCV000565256 RCV000630416 RCV000758624 RCV001001258 RCV005427016

NM_000179.3(MSH6):c.2183A>G (p.Lys728Arg)

SNV
Germline

Chr2:47800166

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Lynch syndrome
MSH6-related disorder
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA068575

rs_35552856

13 SubmittersRCV000564228 RCV000688061 RCV000765685 RCV001591322 RCV003470823 RCV004000868 RCV004740330 RCV005422105

NM_000179.3(MSH6):c.353C>A (p.Thr118Lys)

SNV
Germline

Chr2:47791019

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071156

rs_746060136

3 SubmittersRCV000571824 RCV001858112 RCV004806449

NM_000179.3(MSH6):c.533G>T (p.Arg178Leu)

SNV
Germline

Chr2:47795969

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346738710

rs_786204186

7 SubmittersRCV000570685 RCV001070096 RCV001844201 RCV004001062 RCV006255741

NM_000179.3(MSH6):c.1074C>G (p.Asp358Glu)

SNV
Germline

Chr2:47799057

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067120

rs_760311819

5 SubmittersRCV000566365 RCV001229506 RCV002469207 RCV004001123

NM_000179.3(MSH6):c.2885T>C (p.Ile962Thr)

SNV
Germline

Chr2:47800868

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA069760

rs_778287080

9 SubmittersRCV000561841 RCV000629885 RCV001355686 RCV001374579 RCV001764641 RCV004000884 RCV005034127

NM_000179.3(MSH6):c.2935C>T (p.Leu979=)

SNV
Germline

Chr2:47800918

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426122056

rs_1356451622

6 SubmittersRCV000565992 RCV001435503 RCV003478214 RCV005426181

NM_000179.3(MSH6):c.2413A>G (p.Ile805Val)

SNV
Germline

Chr2:47800396

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Endometrial carcinoma
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA46711082

rs_928923556

8 SubmittersRCV000564287 RCV000815080 RCV000985832 RCV004000878 RCV004569115 RCV004740331

NM_000179.3(MSH6):c.1910T>C (p.Leu637Pro)

SNV
Germline

Chr2:47799893

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346750185

rs_1553413288

4 SubmittersRCV000564992 RCV003451218 RCV005091310 RCV005055443

NM_000179.3(MSH6):c.2197A>G (p.Met733Val)

SNV
Germline

Chr2:47800180

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346751333

rs_1355166868

4 SubmittersRCV000572098 RCV000818585 RCV004001196

NM_000179.3(MSH6):c.1030C>T (p.Gln344Ter)

SNV
Germline

Chr2:47799013

Pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346741390

rs_730881815

4 SubmittersRCV000570360 RCV001354541 RCV001865721 RCV003451217

NM_000179.3(MSH6):c.3029C>G (p.Thr1010Ser)

SNV
Germline

Chr2:47801012

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA346756458

rs_768925694

7 SubmittersRCV000565431 RCV001221506 RCV001551755 RCV002465720 RCV004001060 RCV004569223

NM_000179.3(MSH6):c.3029C>T (p.Thr1010Ile)

SNV
Germline/somatic

Chr2:47801012

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA069975

rs_768925694

6 SubmittersRCV000570481 RCV000758675 RCV001327550 RCV004568234

NM_000179.3(MSH6):c.3162C>G (p.Ile1054Met)

SNV
Germline

Chr2:47801145

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070144

rs_149605979

4 SubmittersRCV000569620 RCV000795073 RCV004806446

NM_000179.3(MSH6):c.3341T>A (p.Leu1114Gln)

SNV
Germline

Chr2:47803588

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346758738

rs_1553331600

8 SubmittersRCV000566943 RCV000586719 RCV000813407 RCV002483532 RCV004001055 RCV005055126

NM_000179.3(MSH6):c.2931C>A (p.Tyr977Ter)

SNV
Germline

Chr2:47800914

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346756202

rs_63750111

5 SubmittersRCV000561109 RCV000630118 RCV003451254 RCV006260305

NM_000179.3(MSH6):c.2015C>T (p.Thr672Ile)

SNV
Germline

Chr2:47799998

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA346750694

rs_1460598011

7 SubmittersRCV000572638 RCV000798635 RCV002266987 RCV003470825 RCV004000869 RCV005056196

NM_000179.3(MSH6):c.3463C>T (p.Gln1155Ter)

SNV
Germline

Chr2:47804934

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760051

rs_1553332166

6 SubmittersRCV000568670 RCV000780477 RCV001853718 RCV003451256

NM_000179.3(MSH6):c.3642A>G (p.Glu1214=)

SNV
Germline

Chr2:47805703

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071543

rs_765247025

6 SubmittersRCV000566298 RCV000630257 RCV001139789 RCV004000865

NM_000179.3(MSH6):c.3886A>C (p.Lys1296Gln)

SNV
Germline

Chr2:47806536

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA072260

rs_575714670

4 SubmittersRCV000572899 RCV000797361 RCV004821282

NM_000179.3(MSH6):c.3438+5C>A

SNV
Germline

Chr2:47803690

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA658655707

rs_777420424

4 SubmittersRCV000564182 RCV001322429 RCV004802254

NM_000179.3(MSH6):c.3928G>A (p.Glu1310Lys)

SNV
Germline

Chr2:47806578

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346761475

rs_1194990135

4 SubmittersRCV000569784 RCV001070287 RCV003387887

NM_000179.3(MSH6):c.3809T>A (p.Met1270Lys)

SNV
Germline

Chr2:47806459

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA072169

rs_777617756

6 SubmittersRCV000570586 RCV000630109 RCV001174877 RCV003126822 RCV004802195

NM_000249.4(MLH1):c.79C>T (p.Arg27Trp)

SNV
Germline

Chr3:36993626

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA038419

rs_756398627

7 SubmittersRCV000570479 RCV000822281 RCV003459284 RCV003317284 RCV004000839 RCV005000239

NM_000249.4(MLH1):c.210A>G (p.Lys70=)

SNV
Germline

Chr3:37000957

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA433065547

rs_63751191

5 SubmittersRCV000564871 RCV000934452 RCV003155236 RCV004000836 RCV005248219

NM_000179.3(MSH6):c.2744C>G (p.Ala915Gly)

SNV
Germline

Chr2:47800727

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346755403

rs_766427609

7 SubmittersRCV000561147 RCV000590239 RCV000793228 RCV003459309 RCV004000907

NM_000179.3(MSH6):c.2886T>G (p.Ile962Met)

SNV
Germline

Chr2:47800869

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA069765

rs_747856982

3 SubmittersRCV000572892 RCV001221971 RCV005601008

NM_000249.4(MLH1):c.272T>G (p.Leu91Ter)

SNV
Germline

Chr3:37001019

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA352036498

rs_63751137

5 SubmittersRCV000574596 RCV000657667 RCV000818030 RCV005861141

NM_000179.3(MSH6):c.3173-4A>C

SNV
Germline

Chr2:47803416

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA658655682

rs_1437555847

4 SubmittersRCV000570771 RCV000926322 RCV005427025

NM_000249.4(MLH1):c.508A>G (p.Ser170Gly)

SNV
Germline

Chr3:37008868

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352040792

rs_1287294691

7 SubmittersRCV000576025 RCV000629906 RCV000759089 RCV003459353 RCV004806470

NM_000249.4(MLH1):c.204C>G (p.Ile68Met)

SNV
Germline

Chr3:36996706

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA032425

rs_780141938

10 SubmittersRCV000566410 RCV000695466 RCV000708913 RCV001284503 RCV004568230

NM_000179.3(MSH6):c.3647-3C>T

SNV
Germline

Chr2:47806201

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA658655730

rs_1553332959

4 SubmittersRCV000573671 RCV001049439 RCV001139790 RCV004000874

NM_000179.3(MSH6):c.3801+4T>C

SNV
Germline

Chr2:47806362

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA072085

rs_758830540

8 SubmittersRCV000567341 RCV000630256 RCV000781586 RCV004001049 RCV004530606

NM_000249.4(MLH1):c.1268G>C (p.Arg423Thr)

SNV
Germline

Chr3:37025866

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA352052909

rs_370687064

7 SubmittersRCV000573244 RCV000688504 RCV003159136 RCV004001021 RCV004569213 RCV004748825

NM_000179.3(MSH6):c.4054A>G (p.Lys1352Glu)

SNV
Germline

Chr2:47806831

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346761723

rs_587782309

6 SubmittersRCV000564537 RCV000630000 RCV003478258 RCV004001052

NM_000249.4(MLH1):c.1256T>C (p.Ile419Thr)

SNV
Germline

Chr3:37025854

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027930

rs_377484262

10 SubmittersRCV000562451 RCV000629991 RCV000679265 RCV003470818 RCV004000837

NM_000249.4(MLH1):c.1989+2T>C

SNV
Germline

Chr3:37048611

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA352066025

rs_1553664119

4 SubmittersRCV000564282 RCV003144386 RCV004001191 RCV003451274

NM_000249.4(MLH1):c.2151A>T (p.Glu717Asp)

SNV
Germline

Chr3:37050533

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA352069180

rs_1553665630

5 SubmittersRCV000576091 RCV000630032 RCV001557751 RCV004001206 RCV005869641

NM_000249.4(MLH1):c.1791G>A (p.Trp597Ter)

SNV
Germline/somatic

Chr3:37047578

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352064694

rs_1416171624

7 SubmittersRCV000563162 RCV000698261 RCV001250000 RCV003451232 RCV003324769 RCV005357653

NM_000249.4(MLH1):c.1896+5G>A

SNV
Germline

Chr3:37047688

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA031311

rs_759870594

11 SubmittersRCV000575544 RCV000764496 RCV000998018 RCV001041310 RCV004001024 RCV004569214 RCV005357686 RCV005898522

NM_000249.4(MLH1):c.943C>T (p.His315Tyr)

SNV
Germline

Chr3:37020368

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039124

rs_151119913

5 SubmittersRCV000571492 RCV001228581 RCV003493657 RCV004001027

NM_000249.4(MLH1):c.1754T>C (p.Leu585Pro)

SNV
Germline

Chr3:37047541

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA352064360

rs_267607865

3 SubmittersRCV000573430 RCV001093657 RCV003758827

NM_000535.7(PMS2):c.*3G>T

SNV
Germline

Chr7:5973396

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA049728

rs_776493195

3 SubmittersRCV000565226 RCV003478291 RCV005422214

NM_000535.7(PMS2):c.2475C>T (p.Ser825=)

SNV
Germline

Chr7:5973513

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA048378

rs_776460258

5 SubmittersRCV000567886 RCV001192584 RCV001052807 RCV003478261 RCV005427030

NM_000535.7(PMS2):c.2445+1G>A

SNV
Germline

Chr7:5977587

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366735529

rs_876661113

5 SubmittersRCV000564513 RCV001358239 RCV001386315 RCV003451263

NM_000535.7(PMS2):c.2192T>A (p.Leu731Ter)

SNV
Germline

Chr7:5978679

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366736899

rs_1060503110

2 SubmittersRCV000565996 RCV003451231

NM_000535.7(PMS2):c.1712T>G (p.Leu571Arg)

SNV
Germline

Chr7:5987053

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA366740207

rs_1060503128

4 SubmittersRCV000561609 RCV003758820 RCV005357649 RCV005000247

NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)

SNV
Germline

Chr7:5987005

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA045499

rs_762100304

12 SubmittersRCV000569664 RCV000629864 RCV000662639 RCV001356078 RCV001821663 RCV006260260

NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter)

SNV
Germline

Chr7:5987159

Pathogenic

Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366741495

rs_1554297488

7 SubmittersRCV000564667 RCV003315438 RCV003451290 RCV003758846 RCV004794416

NM_000535.7(PMS2):c.1646T>G (p.Val549Gly)

SNV
Germline

Chr7:5987119

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA044980

rs_779150753

4 SubmittersRCV000574646 RCV000695347 RCV004000908 RCV005357655

NM_000535.7(PMS2):c.1796A>G (p.Asp599Gly)

SNV
Germline

Chr7:5986969

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366739812

rs_878854039

4 SubmittersRCV000563124 RCV000629896 RCV004001198

NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys)

SNV
Germline

Chr7:5987131

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA153227998

rs_557906137

6 SubmittersRCV000562900 RCV000796414 RCV002509443 RCV004000893 RCV003459301

NM_000535.7(PMS2):c.1616C>T (p.Ala539Val)

SNV
Germline

Chr7:5987149

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA044643

rs_138222146

8 SubmittersRCV000569527 RCV000629904 RCV001755926 RCV004000894

NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)

SNV
Germline

Chr7:5987294

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366741867

rs_1064794577

5 SubmittersRCV000569354 RCV000984324 RCV000822764

NM_000535.7(PMS2):c.2534A>T (p.His845Leu)

SNV
Germline

Chr7:5973454

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366734849

rs_1554292741

4 SubmittersRCV000572695 RCV000629819 RCV003228958 RCV005034128

NM_000535.7(PMS2):c.1345C>T (p.Gln449Ter)

SNV
Germline

Chr7:5987420

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366742291

rs_876661256

3 SubmittersRCV000566101 RCV001858330 RCV003459367

NM_000535.7(PMS2):c.1146T>C (p.Gly382=)

SNV
Germline

Chr7:5987619

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA453643828

rs_1554298091

4 SubmittersRCV000575092 RCV001478531 RCV005427033 RCV006260309

NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter)

SNV
Germline

Chr7:5977620

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366735640

rs_1554293810

3 SubmittersRCV000565606 RCV000798085 RCV003451288

NM_000535.7(PMS2):c.830C>T (p.Thr277Met)

SNV
Germline

Chr7:5995607

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA051942

rs_1805322

7 SubmittersRCV000573847 RCV000587439 RCV001049150 RCV001553488 RCV004001071

NM_000535.7(PMS2):c.803+5G>A

SNV
Germline

Chr7:5997321

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA153239468

rs_939641251

5 SubmittersRCV000564600 RCV000630211 RCV004017680

NM_000535.7(PMS2):c.904-2A>C

SNV
Germline

Chr7:5992059

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743230

rs_587781339

2 SubmittersRCV000561160 RCV003451229

NM_000535.7(PMS2):c.220G>C (p.Gly74Arg)

SNV
Germline

Chr7:6004002

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Lynch syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA366744819

rs_1554304979

7 SubmittersRCV000564836 RCV000630233 RCV001545463 RCV003465282 RCV004001202 RCV005240224

NM_000535.7(PMS2):c.832C>A (p.His278Asn)

SNV
Germline

Chr7:5995605

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA366743530

rs_1554300796

4 SubmittersRCV000563786 RCV003153742 RCV003767186 RCV005044854

NM_000535.7(PMS2):c.1384A>G (p.Ile462Val)

SNV
Germline

Chr7:5987381

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA153228409

rs_200116037

4 SubmittersRCV000571937 RCV000686148 RCV005357709

NM_000535.7(PMS2):c.1224T>C (p.Thr408=)

SNV
Germline

Chr7:5987541

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453748461

rs_1554298007

7 SubmittersRCV000568984 RCV000589305 RCV000978947 RCV006260310 RCV005422180

NM_000535.7(PMS2):c.182A>G (p.Tyr61Cys)

SNV
Germline

Chr7:6004040

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA045665

rs_773109986

6 SubmittersRCV000576125 RCV000692149 RCV003238782 RCV003465281 RCV004001200

NM_000535.7(PMS2):c.164-1G>A

SNV
Germline

Chr7:6004059

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 4
Condition: not provided
Mismatch repair cancer syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA044881

rs_763308607

8 SubmittersRCV000564457 RCV001378577 RCV001280603 RCV003451261 RCV004719882 RCV005367422

NM_000535.7(PMS2):c.546C>T (p.Ala182=)

SNV
Germline

Chr7:5999267

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453647278

rs_1554302537

3 SubmittersRCV000562137 RCV003593982 RCV005422128

NM_000535.7(PMS2):c.535A>T (p.Lys179Ter)

SNV
Germline

Chr7:6002455

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744151

rs_1554303861

3 SubmittersRCV000574316 RCV004017678 RCV003451235

NM_000535.7(PMS2):c.383C>A (p.Ser128Ter)

SNV
Germline

Chr7:6002607

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744457

rs_116373169

2 SubmittersRCV000575923 RCV003451236

NM_000251.3(MSH2):c.1045C>T (p.Pro349Ser)

SNV
Germline

Chr2:47416398

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733218

rs_267607939

4 SubmittersRCV000579738 RCV003237947 RCV003758849 RCV003886417

NM_000251.3(MSH2):c.2435C>G (p.Thr812Ser)

SNV
Germline

Chr2:47478496

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730271

rs_1553369826

5 SubmittersRCV000580076 RCV001236705 RCV003465291 RCV004806505

NM_000251.3(MSH2):c.20A>C (p.Glu7Ala)

SNV
Germline

Chr2:47403211

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA46666467

rs_530071578

6 SubmittersRCV000580313 RCV000698385 RCV004001258 RCV003478306 RCV004530629

NM_000251.3(MSH2):c.1217G>T (p.Arg406Leu)

SNV
Germline

Chr2:47429882

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA346734041

rs_146567853

5 SubmittersRCV000580175 RCV000696098 RCV004001255 RCV005398926

NM_000251.3(MSH2):c.187G>T (p.Val63Leu)

SNV
Germline

Chr2:47403378

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729018

rs_1553348889

4 SubmittersRCV000580643 RCV001038381 RCV004568266

NM_000251.3(MSH2):c.286C>T (p.Arg96Cys)

SNV
Germline

Chr2:47408475

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729600

rs_1443234544

9 SubmittersRCV000580951 RCV000629862 RCV001090210 RCV001193290 RCV004001260

NM_000251.3(MSH2):c.2029A>G (p.Thr677Ala)

SNV
Germline

Chr2:47476390

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Breast carcinoma
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346729112

rs_1553369013

6 SubmittersRCV000579590 RCV001240812 RCV001574074 RCV004001257 RCV004719890

NM_000179.3(MSH6):c.1043C>T (p.Ser348Phe)

SNV
Germline

Chr2:47799026

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA067068

rs_758432113

4 SubmittersRCV000580344 RCV000705715 RCV005398928

NM_000251.3(MSH2):c.1114T>G (p.Leu372Val)

SNV
Germline

Chr2:47429779

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027000

rs_770201760

5 SubmittersRCV000579817 RCV000821374 RCV003324772 RCV004806504

NM_000179.3(MSH6):c.1045C>G (p.Gln349Glu)

SNV
Germline

Chr2:47799028

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346741496

rs_863224473

4 SubmittersRCV000580956 RCV000800340 RCV004001261

NM_000179.3(MSH6):c.1825C>A (p.Leu609Ile)

SNV
Germline

Chr2:47799808

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346749476

rs_1426910114

4 SubmittersRCV000580797 RCV001246377 RCV005601026

NM_000179.3(MSH6):c.2053G>C (p.Gly685Arg)

SNV
Germline

Chr2:47800036

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346750763

rs_1553413427

5 SubmittersRCV000580109 RCV000781578 RCV001346046 RCV006252608

NM_000179.3(MSH6):c.3884C>T (p.Pro1295Leu)

SNV
Germline

Chr2:47806534

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA072254

rs_758181932

5 SubmittersRCV000580177 RCV000808331 RCV003459431 RCV004001271

NM_000251.3(MSH2):c.2649T>G (p.Ile883Met)

SNV
Germline

Chr2:47482793

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA037199

rs_768983827

7 SubmittersRCV000580301 RCV000629841 RCV001193286 RCV002245022 RCV004001259 RCV005398927

NM_000179.3(MSH6):c.2717C>G (p.Thr906Ser)

SNV
Germline

Chr2:47800700

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA346755351

rs_1436232875

6 SubmittersRCV000580164 RCV000695435 RCV003459430 RCV004001269 RCV005431776

NM_000179.3(MSH6):c.435A>C (p.Lys145Asn)

SNV
Germline

Chr2:47791101

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA346737166

rs_1321666742

9 SubmittersRCV000581061 RCV000797264 RCV001284187 RCV001779017 RCV004001272 RCV003459433

NM_000249.4(MLH1):c.206G>A (p.Arg69Lys)

SNV
Germline

Chr3:36996708

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA72786737

rs_63751661

7 SubmittersRCV000580736 RCV000692100 RCV004001251 RCV005357726 RCV006260349

NM_000249.4(MLH1):c.1890T>G (p.Ile630Met)

SNV
Germline

Chr3:37047677

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA031182

rs_774878438

6 SubmittersRCV000580288 RCV000629929 RCV000781544 RCV004722951 RCV004001250

NM_000179.3(MSH6):c.1688C>G (p.Thr563Ser)

SNV
Germline

Chr2:47799671

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346747515

rs_1386014501

5 SubmittersRCV000579771 RCV001296048 RCV003465292 RCV004807003

NM_000179.3(MSH6):c.3887A>G (p.Lys1296Arg)

SNV
Germline

Chr2:47806537

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346761389

rs_1553333526

6 SubmittersRCV000580786 RCV000805168 RCV004568267 RCV004802261 RCV005621976

NM_000535.7(PMS2):c.250+4A>G

SNV
Germline

Chr7:6003968

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453648372

rs_1554304934

4 SubmittersRCV000579449 RCV001302500 RCV003471926

NM_000535.7(PMS2):c.1551C>T (p.Ser517=)

SNV
Germline

Chr7:5987214

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA044294

rs_587782479

6 SubmittersRCV000581144 RCV000629863 RCV003235300 RCV004001275 RCV005422745

NM_000251.3(MSH2):c.-5T>G

SNV
Germline

Chr2:47403187

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA658683193

rs_1553348652

4 SubmittersRCV000583705 RCV003767309 RCV004002325

NM_000251.3(MSH2):c.49G>A (p.Val17Ile)

SNV
Germline

Chr2:47403240

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728561

rs_63750966

4 SubmittersRCV000584099 RCV002530801 RCV003459444

NM_000251.3(MSH2):c.753G>A (p.Glu251=)

SNV
Germline

Chr2:47412521

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA425967882

rs_1553351682

5 SubmittersRCV000582022 RCV002061846 RCV003133385 RCV005248402

NM_000251.3(MSH2):c.-8G>A

SNV
Germline

Chr2:47403184

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA658683192

rs_1064795641

5 SubmittersRCV000581194 RCV001358264 RCV001860085 RCV003150287 RCV004002326

NM_000251.3(MSH2):c.793G>T (p.Val265Phe)

SNV
Germline

Chr2:47414269

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA346732736

rs_1553352377

5 SubmittersRCV000582876 RCV001853922 RCV003459445 RCV003493677

NM_000251.3(MSH2):c.1155A>G (p.Pro385=)

SNV
Germline

Chr2:47429820

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346733687

rs_1553356617

5 SubmittersRCV000582021 RCV001499318 RCV005000350 RCV005248375

NM_000251.3(MSH2):c.1369A>G (p.Thr457Ala)

SNV
Germline

Chr2:47445640

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA346724787

rs_1445965781

5 SubmittersRCV000583346 RCV001860087 RCV004002329 RCV004782455

NM_000251.3(MSH2):c.942+4A>T

SNV
Germline

Chr2:47414422

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA532705013

rs_749778569

5 SubmittersRCV000582182 RCV001323272 RCV001731797 RCV004735635 RCV004002338

NM_000251.3(MSH2):c.962C>G (p.Thr321Ser)

SNV
Germline

Chr2:47416315

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346733064

rs_1233448699

6 SubmittersRCV000581531 RCV000813559 RCV003736829 RCV004002340

NM_000251.3(MSH2):c.1022T>G (p.Leu341Arg)

SNV
Germline

Chr2:47416375

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346733167

rs_63751147

4 SubmittersRCV000583630 RCV000803709 RCV004002327

NM_000251.3(MSH2):c.1074G>C (p.Glu358Asp)

SNV
Germline

Chr2:47416427

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346733277

rs_1477257356

5 SubmittersRCV000582679 RCV001321827 RCV002282243 RCV003459442

NM_000251.3(MSH2):c.1076+5G>A

SNV
Germline

Chr2:47416434

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA532705087

rs_1400610583

4 SubmittersRCV000582545 RCV000695809 RCV005601031

NM_000251.3(MSH2):c.1148G>C (p.Arg383Pro)

SNV
Germline

Chr2:47429813

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46702652

rs_376934727

5 SubmittersRCV000583180 RCV000679283 RCV000702596 RCV004807009

NM_000251.3(MSH2):c.1303G>C (p.Val435Leu)

SNV
Germline

Chr2:47445574

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346724556

rs_876658240

5 SubmittersRCV000583308 RCV001359134 RCV003465307 RCV004002328

NM_000251.3(MSH2):c.1225C>T (p.Gln409Ter)

SNV
Germline

Chr2:47429890

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346734091

rs_151244108

5 SubmittersRCV000583444 RCV001591350 RCV001853921 RCV003451301

NM_000251.3(MSH2):c.2542G>A (p.Ala848Thr)

SNV
Germline

Chr2:47480779

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA036452

rs_746972142

4 SubmittersRCV000581658 RCV003758862 RCV004807011

NM_000251.3(MSH2):c.1650A>C (p.Lys550Asn)

SNV
Germline

Chr2:47466797

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728000

rs_1553366663

3 SubmittersRCV000582130 RCV004002331

NM_000251.3(MSH2):c.1803G>C (p.Gln601His)

SNV
Germline

Chr2:47475068

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728326

rs_1553368556

4 SubmittersRCV000584510 RCV000796750 RCV000735960

NM_000251.3(MSH2):c.2458+10A>G

SNV
Germline

Chr2:47478529

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA658683245

rs_1269379998

7 SubmittersRCV000583562 RCV000604544 RCV000898368 RCV005248395 RCV005357752

NM_000251.3(MSH2):c.2266A>T (p.Thr756Ser)

SNV
Germline

Chr2:47478327

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA46704862

rs_750646335

4 SubmittersRCV000583000 RCV005091506 RCV005248393

NM_000179.3(MSH6):c.-4C>T

SNV
Germline

Chr2:47783230

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA532350631

rs_1114167784

4 SubmittersRCV000581601 RCV001354966 RCV004002342

NM_000251.3(MSH2):c.2635-11A>G

SNV
Germline

Chr2:47482768

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA037106

rs_201291595

7 SubmittersRCV000583741 RCV001683596 RCV002061842 RCV003320710 RCV005422747 RCV005357753

NM_000179.3(MSH6):c.877C>T (p.Pro293Ser)

SNV
Germline

Chr2:47798860

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073534

rs_756935130

6 SubmittersRCV000583660 RCV000806695 RCV002466543 RCV005027689 RCV004807016

NM_000179.3(MSH6):c.628-13C>G

SNV
Germline

Chr2:47798598

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073220

rs_538280815

7 SubmittersRCV000584305 RCV001142202 RCV001357031 RCV002061863 RCV001712596 RCV004002356

NM_000179.3(MSH6):c.1876C>T (p.Gln626Ter)

SNV
Germline

Chr2:47799859

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346749937

rs_1553413253

5 SubmittersRCV000584384 RCV000657708 RCV001048652 RCV004555869

NM_000179.3(MSH6):c.1961T>C (p.Met654Thr)

SNV
Germline

Chr2:47799944

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA068326

rs_761433489

5 SubmittersRCV000581390 RCV001860090 RCV004002345 RCV004530630

NM_000179.3(MSH6):c.3096C>T (p.Cys1032=)

SNV
Germline

Chr2:47801079

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 5
not specified

Criteria Provided
Conflicting Classifications

CA426121849

rs_1553414502

6 SubmittersRCV000582207 RCV005091509 RCV005357754 RCV005427098 RCV005431778

NM_000179.3(MSH6):c.3321T>G (p.Asp1107Glu)

SNV
Germline

Chr2:47803568

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346758673

rs_1258021186

4 SubmittersRCV000582580 RCV000808125 RCV004002352

NM_000179.3(MSH6):c.3166G>C (p.Val1056Leu)

SNV
Germline

Chr2:47801149

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46713075

rs_952911807

4 SubmittersRCV000582540 RCV001209413 RCV004807015

NM_000179.3(MSH6):c.3604A>T (p.Met1202Leu)

SNV
Germline

Chr2:47805665

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA346760558

rs_369778514

7 SubmittersRCV000584693 RCV000587024 RCV000629874 RCV000610333 RCV004002353 RCV005034153

NM_000535.7(PMS2):c.1571C>T (p.Pro524Leu)

SNV
Germline

Chr7:5987194

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366741565

rs_63751257

3 SubmittersRCV000581535 RCV004002364

NM_000535.7(PMS2):c.706-11T>C

SNV
Germline

Chr7:5997434

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA572548208

rs_1185117521

4 SubmittersRCV000583138 RCV003316770

NM_000535.7(PMS2):c.903+1G>T

SNV
Germline

Chr7:5995533

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743394

rs_1554300689

4 SubmittersRCV000584297 RCV001378093 RCV003451312

NM_000535.7(PMS2):c.354-12A>G

SNV
Germline

Chr7:6002648

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA658683459

rs_1554304135

5 SubmittersRCV000582563 RCV002061907 RCV005357763 RCV005427108

NM_000535.7(PMS2):c.538-12T>G

SNV
Germline

Chr7:5999287

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA658683457

rs_1554302551

5 SubmittersRCV000582218 RCV003594000 RCV004807019 RCV005601034

NM_000535.7(PMS2):c.75G>A (p.Gln25=)

SNV
Germline

Chr7:6005980

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453650319

rs_1554306525

7 SubmittersRCV000582802 RCV001433232 RCV003155240 RCV003992336 RCV004002370 RCV005427110

NM_000535.7(PMS2):c.73C>T (p.Gln25Ter)

SNV
Germline

Chr7:6005982

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366745114

rs_1554306528

4 SubmittersRCV000583497 RCV004787998

NM_000535.7(PMS2):c.1120C>T (p.Gln374Ter)

SNV
Germline

Chr7:5989824

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366742765

rs_1437858319

6 SubmittersRCV000581876 RCV001193817 RCV002509456 RCV003451309 RCV005091515

NM_000535.7(PMS2):c.706-3C>T

SNV
Germline

Chr7:5997426

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome
not specified
Thymoma
Cholangiocarcinoma
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA572548192

rs_1229860023

7 SubmittersRCV000584358 RCV000630290 RCV000987845 RCV004002368 RCV004596296 RCV005898579 RCV005898580 RCV005898578

NM_000535.7(PMS2):c.354-7C>T

SNV
Germline

Chr7:6002643

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA049526

rs_758471869

6 SubmittersRCV000583777 RCV000590705 RCV000662819 RCV000868952 RCV001798905

NM_000535.7(PMS2):c.206C>A (p.Ser69Ter)

SNV
Germline

Chr7:6004016

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA366744852

rs_730881914

4 SubmittersRCV000584111 RCV000657694 RCV003451311 RCV005407760

NM_000179.3(MSH6):c.260+2T>A

SNV
Germline

Chr2:47783495

Likely pathogenic

Condition: not provided
Lynch syndrome

Criteria Provided
Single Submitter

CA346735205

rs_1553408469

2 SubmittersRCV000583128 RCV004017688

NM_000179.3(MSH6):c.1135A>T (p.Arg379Ter)

SNV
Germline

Chr2:47799118

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346742114

rs_1432436629

4 SubmittersRCV000583626 RCV001867896 RCV002325116 RCV003451319

NM_000179.3(MSH6):c.2095G>T (p.Glu699Ter)

SNV
Unknown

Chr2:47800078

Pathogenic

Condition: not provided
Lynch syndrome 5

Criteria Provided
Single Submitter

CA346750880

rs_1553413470

2 SubmittersRCV000581995 RCV003451320

NM_000251.3(MSH2):c.1361T>G (p.Ile454Arg)

SNV
Germline

Chr2:47445632

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346724761

rs_1060502025

5 SubmittersRCV000589611 RCV001220102 RCV002384283 RCV003451329 RCV005863214

NM_000179.3(MSH6):c.3646+1G>T

SNV
Germline/somatic

Chr2:47805708

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Neoplasm
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346760640

rs_1553332772

6 SubmittersRCV000587991 RCV001860121 RCV003451326 RCV003278922 RCV004669047 RCV006260873

NM_000179.3(MSH6):c.1646C>G (p.Ser549Cys)

SNV
Germline

Chr2:47799629

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA46708577

rs_200447622

6 SubmittersRCV000589561 RCV000776441 RCV000810051 RCV003478321 RCV005869649

NM_000251.3(MSH2):c.547C>A (p.Gln183Lys)

SNV
Germline

Chr2:47410274

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730870

rs_63750037

5 SubmittersRCV000590002 RCV001024159 RCV001853977 RCV004002418

NM_000251.3(MSH2):c.2466T>A (p.Cys822Ter)

SNV
Germline

Chr2:47480703

Pathogenic/Likely pathogenic

Lynch syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA46707579

rs_63749846

2 SubmittersRCV000587946 RCV003451330

NM_000249.4(MLH1):c.199G>C (p.Gly67Arg)

SNV
Germline

Chr3:36996701

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352035488

rs_63750206

5 SubmittersRCV000589590 RCV000700612 RCV003388588 RCV005601037

NM_000535.7(PMS2):c.2175A>G (p.Ala725=)

SNV
Germline

Chr7:5978696

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA046990

rs_769116749

6 SubmittersRCV000587820 RCV000803808 RCV001014679 RCV005427133

NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)

SNV
Germline

Chr7:5986856

Pathogenic/Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366739308

rs_1554297125

6 SubmittersRCV000590029 RCV000759915 RCV001219508 RCV002413666 RCV003451332

NM_000535.7(PMS2):c.164-5T>C

SNV
Germline

Chr7:6004063

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA658796892

rs_1554305071

4 SubmittersRCV000593791 RCV000707580 RCV002395519 RCV005422818

NM_000179.3(MSH6):c.1993G>T (p.Glu665Ter)

SNV
Germline

Chr2:47799976

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 5
MSH6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA346750651

rs_1333555322

5 SubmittersRCV000602898 RCV002420653 RCV003117420 RCV003451452 RCV004527682

NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter)

SNV
Germline

Chr2:47800402

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346754007

rs_587779923

8 SubmittersRCV000601053 RCV000688489 RCV003316777 RCV004944019 RCV006252709

NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter)

SNV
Germline

Chr7:5978632

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366736632

rs_1554294448

4 SubmittersRCV000607235 RCV002431760 RCV003451360 RCV003758874

NM_000251.3(MSH2):c.943-6T>C

SNV
Germline

Chr2:47416290

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA041754

rs_768644134

5 SubmittersRCV000603358 RCV000630239 RCV000774560 RCV003492119 RCV005248414

NM_000251.3(MSH2):c.2634+4T>C

SNV
Germline

Chr2:47480875

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA658795789

rs_1553370486

6 SubmittersRCV000604429 RCV001039758 RCV003584672 RCV005357800 RCV005601044

NM_000179.3(MSH6):c.1100A>G (p.His367Arg)

SNV
Germline

Chr2:47799083

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA346741910

rs_1553412495

4 SubmittersRCV000622394 RCV003278952 RCV003451475 RCV003594011

NM_000249.4(MLH1):c.827T>G (p.Ile276Arg)

SNV
Germline

Chr3:37017542

Pathogenic

Lynch syndrome 1
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA352046042

rs_1253275403

3 SubmittersRCV000623903 RCV003447545 RCV003594010

NM_000251.3(MSH2):c.700A>G (p.Thr234Ala)

SNV
Germline

Chr2:47412468

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346731985

rs_1212577306

6 SubmittersRCV000629704 RCV000777452 RCV002233918 RCV004002771 RCV004568355

NM_000251.3(MSH2):c.689C>T (p.Ala230Val)

SNV
Germline

Chr2:47412457

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731902

rs_1553351592

3 SubmittersRCV000629696 RCV004944024 RCV004807051

NM_000251.3(MSH2):c.536C>T (p.Pro179Leu)

SNV
Germline

Chr2:47410263

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA46678119

rs_902336078

3 SubmittersRCV000629937 RCV001023985 RCV003459492

NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter)

SNV
Germline

Chr2:47429804

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733647

rs_730881755

4 SubmittersRCV000630006 RCV002457988 RCV003451497

NM_000251.3(MSH2):c.1981A>G (p.Lys661Glu)

SNV
Germline

Chr2:47475246

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728873

rs_1553368707

4 SubmittersRCV000629738 RCV001179138 RCV004002773

NM_000251.3(MSH2):c.2621A>G (p.Tyr874Cys)

SNV
Germline

Chr2:47480858

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
MSH2-related disorder
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA036876

rs_775390721

8 SubmittersRCV000630014 RCV000776212 RCV000781567 RCV003478344 RCV004533306 RCV005392197

NM_000251.3(MSH2):c.2319G>C (p.Lys773Asn)

SNV
Germline

Chr2:47478380

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035333

rs_745528772

5 SubmittersRCV000629895 RCV001015167 RCV004002779

NM_000251.3(MSH2):c.2129C>G (p.Ala710Gly)

SNV
Germline

Chr2:47476490

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA034290

rs_373717132

5 SubmittersRCV000629899 RCV002420671 RCV004002780 RCV005422871

NM_000251.3(MSH2):c.2522T>C (p.Ile841Thr)

SNV
Germline

Chr2:47480759

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730757

rs_1275767178

4 SubmittersRCV000630060 RCV001015812 RCV003459496

NM_000179.3(MSH6):c.461C>G (p.Ser154Ter)

SNV
Germline

Chr2:47795897

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346738562

rs_1553411391

5 SubmittersRCV000629824 RCV001805232 RCV003451488 RCV005231198

NM_000179.3(MSH6):c.589G>C (p.Asp197His)

SNV
Germline

Chr2:47796025

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA46703403

rs_148517241

6 SubmittersRCV000630129 RCV001024658 RCV002483771 RCV004002791 RCV004568365

NM_000251.3(MSH2):c.501T>C (p.Asp167=)

SNV
Germline

Chr2:47410228

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426119531

rs_757733033

4 SubmittersRCV001405031 RCV003478346 RCV004025379 RCV005248468

NM_000179.3(MSH6):c.1707C>T (p.Phe569=)

SNV
Germline

Chr2:47799690

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426120975

rs_1553413086

6 SubmittersRCV000630326 RCV001188151 RCV004807058 RCV005427179

NM_000179.3(MSH6):c.1130A>C (p.Lys377Thr)

SNV
Germline

Chr2:47799113

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067191

rs_550221570

4 SubmittersRCV000629781 RCV002325197 RCV002510939 RCV004002774

NM_000179.3(MSH6):c.2180C>G (p.Thr727Ser)

SNV
Germline

Chr2:47800163

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA068566

rs_767861096

5 SubmittersRCV000629678 RCV000774601 RCV004002769 RCV004767454

NM_000251.3(MSH2):c.1810G>A (p.Ala604Thr)

SNV
Germline

Chr2:47475075

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA346728336

rs_1553368568

6 SubmittersRCV000629723 RCV001013211 RCV001731820 RCV004002772 RCV005357831

NM_000251.3(MSH2):c.2132G>T (p.Arg711Leu)

SNV
Germline

Chr2:47476493

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346729289

rs_138465383

5 SubmittersRCV000629968 RCV000777516 RCV004568362 RCV006272392

NM_000179.3(MSH6):c.2783C>A (p.Thr928Asn)

SNV
Germline

Chr2:47800766

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA069625

rs_781482454

5 SubmittersRCV000630100 RCV001016596 RCV001756039 RCV002465740 RCV005601054

NM_000179.3(MSH6):c.3173-2A>C

SNV
Germline

Chr2:47803418

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346757808

rs_1553331242

4 SubmittersRCV000630128 RCV002325200 RCV003459499 RCV003451501

NM_000179.3(MSH6):c.3256C>T (p.Pro1086Ser)

SNV
Germline

Chr2:47803503

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346758131

rs_756108143

6 SubmittersRCV000630015 RCV000771661 RCV003332215 RCV004002789

NM_000179.3(MSH6):c.457G>C (p.Gly153Arg)

SNV
Germline

Chr2:47791123

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346737213

rs_1060502885

4 SubmittersRCV000629857 RCV002334052 RCV003317307 RCV004788045

NM_000179.3(MSH6):c.4066T>G (p.Leu1356Val)

SNV
Germline

Chr2:47806843

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346761745

rs_1226221560

4 SubmittersRCV000630235 RCV000777010 RCV004807056

NM_000179.3(MSH6):c.3584G>C (p.Ser1195Thr)

SNV
Germline

Chr2:47805645

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071428

rs_758428552

3 SubmittersRCV000630131 RCV002457990 RCV004002792

NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter)

SNV
Germline

Chr2:47801001

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346756433

rs_1553414395

5 SubmittersRCV000629667 RCV000986728 RCV001541581 RCV002438637

NM_000179.3(MSH6):c.3138C>G (p.Asp1046Glu)

SNV
Germline

Chr2:47801121

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346756683

rs_1244049824

5 SubmittersRCV000629822 RCV001018783 RCV003236826 RCV004807052

NM_000179.3(MSH6):c.3160A>G (p.Ile1054Val)

SNV
Germline

Chr2:47801143

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA070133

rs_267608075

5 SubmittersRCV000630191 RCV001018885 RCV004002795 RCV006260902

NM_000179.3(MSH6):c.3410T>C (p.Met1137Thr)

SNV
Germline

Chr2:47803657

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA346758901

rs_1553331742

8 SubmittersRCV000629949 RCV001193729 RCV002457986 RCV003238789 RCV004002785 RCV004568361

NM_000179.3(MSH6):c.3715A>G (p.Ile1239Val)

SNV
Germline

Chr2:47806272

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA346761006

rs_1469961964

5 SubmittersRCV000629876 RCV002343196 RCV004002778 RCV004568359 RCV005027741

NM_000249.4(MLH1):c.227T>A (p.Val76Glu)

SNV
Germline

Chr3:37000974

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352035965

rs_1434599441

4 SubmittersRCV000629926 RCV002448929 RCV003451493 RCV004002782

NM_000249.4(MLH1):c.1420C>A (p.Arg474=)

SNV
Germline

Chr3:37028794

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA433079515

rs_147939838

6 SubmittersRCV000630321 RCV001011502 RCV002264965 RCV004002801 RCV005248482

NM_000249.4(MLH1):c.33G>A (p.Leu11=)

SNV
Germline

Chr3:36993580

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA433087125

rs_1553637191

6 SubmittersRCV000630422 RCV000772980 RCV004002808 RCV005248992 RCV006260905

NM_000249.4(MLH1):c.1051G>A (p.Gly351Arg)

SNV
Germline

Chr3:37025649

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352052043

rs_1437454428

7 SubmittersRCV000629849 RCV001017137 RCV000985774 RCV002492942 RCV003459491 RCV004002777

NM_000535.7(PMS2):c.930C>T (p.Tyr310=)

SNV
Germline

Chr7:5992031

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453645313

rs_1405625567

4 SubmittersRCV000630341 RCV002377348 RCV004002802 RCV005422881

NM_000535.7(PMS2):c.445T>A (p.Tyr149Asn)

SNV
Germline

Chr7:6002545

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA153245216

rs_890029950

4 SubmittersRCV000629840 RCV001022515 RCV004807053

NM_000535.7(PMS2):c.989-3T>C

SNV
Germline

Chr7:5989958

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA572822671

rs_1156325177

7 SubmittersRCV000629730 RCV000708987 RCV000777103 RCV005427172

NM_000535.7(PMS2):c.353G>A (p.Ser118Asn)

SNV
Germline

Chr7:6003690

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744522

rs_1394474494

7 SubmittersRCV000629959 RCV001358610 RCV001692240 RCV002457987 RCV003451495

NM_000535.7(PMS2):c.903+1G>C

SNV
Germline

Chr7:5995533

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366743395

rs_1554300689

5 SubmittersRCV000629948 RCV002272310 RCV002377347

NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter)

SNV
Germline

Chr7:5989908

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366742939

rs_1554298786

5 SubmittersRCV000629989 RCV001805233 RCV001591406 RCV003451496

NM_007294.4(BRCA1):c.5407-9G>A

SNV
Germline

Chr17:43047712

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA054942

rs_551078372

6 SubmittersRCV000637809 RCV000758845 RCV001077355 RCV004948507 RCV005861148

NM_000251.3(MSH2):c.495T>G (p.Tyr165Ter)

SNV
Germline

Chr2:47410222

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA46677963

rs_63749949

3 SubmittersRCV000657693 RCV002334219 RCV003451605

NM_000251.3(MSH2):c.1566C>A (p.Tyr522Ter)

SNV
Germline

Chr2:47466713

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346727817

rs_63750224

4 SubmittersRCV000657690 RCV001384313 RCV003451604

NM_000179.3(MSH6):c.1691C>G (p.Ser564Ter)

SNV
Germline

Chr2:47799674

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346747528

rs_864622153

5 SubmittersRCV000657688 RCV000705277 RCV002397335 RCV003451603

NM_000179.3(MSH6):c.1921G>T (p.Glu641Ter)

SNV
Germline

Chr2:47799904

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346750292

rs_1553413305

5 SubmittersRCV000657743 RCV001013705 RCV001386205 RCV003451608

NM_000249.4(MLH1):c.1546C>T (p.Gln516Ter)

SNV
Germline

Chr3:37028920

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA352057049

rs_1553653195

7 SubmittersRCV000657574 RCV000791767 RCV001012049 RCV002284202 RCV003451600

NM_000535.7(PMS2):c.1699C>T (p.Gln567Ter)

SNV
Germline

Chr7:5987066

Pathogenic

Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366741147

rs_1554297342

4 SubmittersRCV000657706 RCV003451606 RCV003758897

NM_000535.7(PMS2):c.986C>G (p.Ser329Ter)

SNV
Germline

Chr7:5991975

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743059

rs_1461669945

5 SubmittersRCV000657672 RCV001381062 RCV002386127 RCV003316781

NM_000179.3(MSH6):c.524C>T (p.Ala175Val)

SNV
Germline

Chr2:47795960

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346738692

rs_1060502929

3 SubmittersRCV000659886 RCV003362884 RCV004004199

NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter)

SNV
Germline

Chr2:47408543

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346730114

rs_1553350250

4 SubmittersRCV000662664 RCV001020582 RCV003758900

NM_000251.3(MSH2):c.982G>C (p.Ala328Pro)

SNV
Germline

Chr2:47416335

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA041952

rs_753237286

9 SubmittersRCV000662549 RCV001019794 RCV001229515 RCV001584524 RCV004004205 RCV005901428

NM_000251.3(MSH2):c.1760-10T>A

SNV
Germline

Chr2:47475015

Conflicting classifications of pathogenicity

Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA030881

rs_767536391

6 SubmittersRCV000662919 RCV000838618 RCV001444969 RCV003584700

NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter)

SNV
Germline

Chr2:47790975

Pathogenic

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346736807

rs_1553410230

4 SubmittersRCV000662582 RCV001390324 RCV002325335

NM_000179.3(MSH6):c.3706G>C (p.Ala1236Pro)

SNV
Germline

Chr2:47806263

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346760990

rs_1553333039

3 SubmittersRCV000662575 RCV003163050

NM_000535.7(PMS2):c.2276-2A>C

SNV
Unknown

Chr7:5977759

Likely pathogenic

Lynch syndrome 4

No Assertion Criteria Provided

CA366736219

rs_1554294019

1 SubmittersRCV000662649

NM_000535.7(PMS2):c.2212G>T (p.Val738Phe)

SNV
Germline

Chr7:5978659

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA047086

rs_758225108

9 SubmittersRCV000662652 RCV001244703 RCV001797773 RCV002255499 RCV005392264

NM_000535.7(PMS2):c.1798A>G (p.Met600Val)

SNV
Germline

Chr7:5986967

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA366739799

rs_1304634005

10 SubmittersRCV000662640 RCV000772030 RCV001030721 RCV001061729 RCV001358228 RCV004004206 RCV006260963

NM_000251.3(MSH2):c.1832T>A (p.Val611Glu)

SNV
Germline

Chr2:47475097

Conflicting classifications of pathogenicity

Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA346728375

rs_1553368590

2 SubmittersRCV000664317 RCV004702272

NM_000251.3(MSH2):c.2083G>C (p.Val695Leu)

SNV
Germline

Chr2:47476444

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA033555

rs_772491283

5 SubmittersRCV000679302 RCV001014370 RCV001226997 RCV003459650

NM_000179.3(MSH6):c.2145C>G (p.Asp715Glu)

SNV
Germline

Chr2:47800128

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346751090

rs_1221484522

7 SubmittersRCV000679223 RCV000812831 RCV001014567 RCV004807080

NM_000251.3(MSH2):c.2635-2A>G

SNV
Germline

Chr2:47482777

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA346731302

rs_1114167818

3 SubmittersRCV000680205 RCV001042011

NM_000179.3(MSH6):c.1445G>C (p.Arg482Pro)

SNV
Germline

Chr2:47799428

Likely pathogenic

Lynch syndrome 1

Reviewed By Expert Panel

CA346745661

rs_773226008

1 SubmittersRCV000680206

NM_000179.3(MSH6):c.2234T>A (p.Ile745Asn)

SNV
Germline

Chr2:47800217

Likely pathogenic

Lynch syndrome 1

Reviewed By Expert Panel

CA346752536

rs_1558664787

1 SubmittersRCV000680208

NM_000249.4(MLH1):c.114C>A (p.Asn38Lys)

SNV
Germline

Chr3:36993661

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA352061243

rs_267607706

2 SubmittersRCV000680195 RCV003758909

NM_000249.4(MLH1):c.117-1G>T

SNV
Germline

Chr3:36996618

Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA352035332

rs_587779950

2 SubmittersRCV000680196 RCV002331313

NM_000249.4(MLH1):c.923A>C (p.His308Pro)

SNV
Germline

Chr3:37020348

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA352048631

rs_1559543768

3 SubmittersRCV000680200 RCV001861879 RCV002369811

NM_000535.7(PMS2):c.706-2A>T

SNV
Germline

Chr7:5997425

Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA153239785

rs_745487791

4 SubmittersRCV000681963 RCV001379300 RCV003485629

NM_000251.3(MSH2):c.7G>A (p.Val3Met)

SNV
Germline

Chr2:47403198

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346728404

rs_1257347271

6 SubmittersRCV000706952 RCV000776681 RCV003460988 RCV003999779 RCV006261013

NM_000251.3(MSH2):c.10C>T (p.Gln4Ter)

SNV
Germline

Chr2:47403201

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA346728415

rs_878853797

5 SubmittersRCV000701344 RCV002424689 RCV003453490 RCV003155289

NM_000251.3(MSH2):c.482T>C (p.Val161Ala)

SNV
Germline

Chr2:47410209

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Breast carcinoma
Ependymoma
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730609

rs_63750126

6 SubmittersRCV000685129 RCV001554318 RCV002286419 RCV002331318 RCV003992370

NM_000251.3(MSH2):c.2366C>G (p.Ala789Gly)

SNV
Germline

Chr2:47478427

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730035

rs_876660292

4 SubmittersRCV000695831 RCV000773306 RCV003465594

NM_000251.3(MSH2):c.2459-1G>C

SNV
Germline

Chr2:47480695

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730509

rs_1060501991

4 SubmittersRCV000698818 RCV002298743 RCV003279017 RCV003453475

NM_000251.3(MSH2):c.39C>G (p.Ser13Arg)

SNV
Germline

Chr2:47403230

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728528

rs_1060502015

4 SubmittersRCV000695223 RCV002473115 RCV003303146 RCV003460939

NM_000251.3(MSH2):c.2270A>G (p.Tyr757Cys)

SNV
Germline

Chr2:47478331

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729799

rs_780448421

3 SubmittersRCV000690793 RCV001015003 RCV004807087

NM_000251.3(MSH2):c.2645A>C (p.Lys882Thr)

SNV
Germline

Chr2:47482789

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346731362

rs_1284087975

6 SubmittersRCV000691943 RCV001525887 RCV005027855 RCV004807090 RCV006260990

NM_000179.3(MSH6):c.394C>T (p.Gln132Ter)

SNV
Germline

Chr2:47791060

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346737073

rs_587782101

3 SubmittersRCV000699082 RCV002352177 RCV003485632

NM_000179.3(MSH6):c.1767T>A (p.Tyr589Ter)

SNV
Germline

Chr2:47799750

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346749116

rs_1558662873

4 SubmittersRCV000685854 RCV003303110 RCV003323684 RCV003453405

NM_000249.4(MLH1):c.1945C>T (p.Pro649Ser)

SNV
Germline

Chr3:37048565

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352065748

rs_1280930048

6 SubmittersRCV000688390 RCV001013801 RCV001284502 RCV004004281

NM_000251.3(MSH2):c.192C>G (p.Ile64Met)

SNV
Germline

Chr2:47403383

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729028

rs_1395172053

5 SubmittersRCV000695203 RCV000772252 RCV002271568 RCV003999635

NM_000251.3(MSH2):c.598G>A (p.Val200Ile)

SNV
Germline

Chr2:47410325

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346731049

rs_1558459684

6 SubmittersRCV000694159 RCV001771962 RCV002352150 RCV003999611 RCV004569320

NM_000251.3(MSH2):c.1013G>T (p.Gly338Val)

SNV
Germline

Chr2:47416366

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733147

rs_587779065

4 SubmittersRCV000689433 RCV001269518 RCV002352132 RCV003453433

NM_000251.3(MSH2):c.1111G>T (p.Glu371Ter)

SNV
Germline

Chr2:47429776

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733591

rs_1060501994

3 SubmittersRCV000685845 RCV002440422 RCV005427241

NM_000251.3(MSH2):c.2326G>A (p.Ala776Thr)

SNV
Germline

Chr2:47478387

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA346729904

rs_1558521842

3 SubmittersRCV000686668 RCV002458205 RCV005357909

NM_000251.3(MSH2):c.2496G>T (p.Glu832Asp)

SNV
Germline

Chr2:47480733

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA036265

rs_763361583

2 SubmittersRCV000702508 RCV003999729

NM_000251.3(MSH2):c.2681T>C (p.Met894Thr)

SNV
Germline

Chr2:47482825

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731538

rs_1558526026

4 SubmittersRCV000698986 RCV001190392 RCV003999685

NM_000179.3(MSH6):c.1513T>C (p.Tyr505His)

SNV
Germline

Chr2:47799496

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA346746307

rs_1558661932

6 SubmittersRCV000697076 RCV002307598 RCV002388276 RCV003999663 RCV004569339

NM_000179.3(MSH6):c.1515T>G (p.Tyr505Ter)

SNV
Germline

Chr2:47799498

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346746328

rs_878853704

2 SubmittersRCV000706233 RCV003453502

NM_000179.3(MSH6):c.2386G>T (p.Glu796Ter)

SNV
Germline

Chr2:47800369

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346753798

rs_1558665297

3 SubmittersRCV000695381 RCV002424656 RCV003453460

NM_000179.3(MSH6):c.2551A>G (p.Ser851Gly)

SNV
Germline

Chr2:47800534

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069172

rs_762352116

6 SubmittersRCV000704606 RCV001015904 RCV001775976 RCV002298748 RCV004807107

NM_000179.3(MSH6):c.3018C>G (p.Tyr1006Ter)

SNV
Germline

Chr2:47801001

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756434

rs_1553414395

3 SubmittersRCV000694583 RCV002440471 RCV003453457

NM_000179.3(MSH6):c.3416G>A (p.Gly1139Asp)

SNV
Germline

Chr2:47803663

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346758917

rs_1316409501

6 SubmittersRCV000704717 RCV001524596 RCV003453499 RCV004721570

NM_000179.3(MSH6):c.3443G>C (p.Gly1148Ala)

SNV
Germline

Chr2:47804914

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070952

rs_763058648

4 SubmittersRCV000685016 RCV002255503 RCV004802350

NM_000249.4(MLH1):c.1078G>C (p.Val360Leu)

SNV
Germline

Chr3:37025676

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA352052096

rs_878853775

4 SubmittersRCV000697943 RCV002422545 RCV003999674 RCV005249027

NM_000251.3(MSH2):c.11A>C (p.Gln4Pro)

SNV
Germline

Chr2:47403202

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728417

rs_754562075

5 SubmittersRCV000699823 RCV001010272 RCV001771985 RCV003460965

NM_000251.3(MSH2):c.576C>G (p.Ile192Met)

SNV
Germline

Chr2:47410303

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46678335

rs_864622381

5 SubmittersRCV000702160 RCV001175679 RCV003460973 RCV003999726

NM_000251.3(MSH2):c.896A>G (p.Tyr299Cys)

SNV
Germline/somatic

Chr2:47414372

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346732933

rs_1558464315

4 SubmittersRCV000687665 RCV000758588 RCV001018555 RCV003465561

NM_000251.3(MSH2):c.1607A>G (p.Asn536Ser)

SNV
Germline

Chr2:47466754

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46685175

rs_201722703

4 SubmittersRCV000697547 RCV000774570 RCV003999668

NM_000251.3(MSH2):c.1759+1G>T

SNV
Germline/somatic

Chr2:47471063

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728240

rs_587779108

4 SubmittersRCV000686749 RCV000758656 RCV002406539 RCV003322612

NM_000535.7(PMS2):c.2175-1G>C

SNV
Germline

Chr7:5978697

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366736996

rs_1562605623

4 SubmittersRCV000706835 RCV003453507 RCV004944131

NM_000535.7(PMS2):c.1789A>G (p.Thr597Ala)

SNV
Germline

Chr7:5986976

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA153227649

rs_1805318

5 SubmittersRCV000686207 RCV001013182 RCV001357976 RCV004004242

NM_000179.3(MSH6):c.211A>C (p.Asn71His)

SNV
Germline

Chr2:47783444

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346735061

rs_1558645379

3 SubmittersRCV000693238 RCV005027861 RCV005443139

NM_000535.7(PMS2):c.1249A>G (p.Ile417Val)

SNV
Germline

Chr7:5987516

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366742482

rs_1060503132

5 SubmittersRCV000691359 RCV000776873 RCV002477557 RCV005046934

NM_000535.7(PMS2):c.537+5A>G

SNV
Germline

Chr7:6002448

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA891843337

rs_1562688519

4 SubmittersRCV000704350 RCV001023988 RCV003999751

NM_000535.7(PMS2):c.803+1G>T

SNV
Germline

Chr7:5997325

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
PMS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA366743597

rs_1562669585

6 SubmittersRCV000700344 RCV001784337 RCV002422563 RCV003453480 RCV004723104

NM_000535.7(PMS2):c.8G>T (p.Arg3Leu)

SNV
Germline

Chr7:6009012

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA052196

rs_375507981

5 SubmittersRCV000696078 RCV001177038 RCV003460944 RCV003999650

NM_000249.4(MLH1):c.440G>A (p.Gly147Glu)

SNV
Germline

Chr3:37007050

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA352039355

rs_1060500702

4 SubmittersRCV000696093 RCV000781989 RCV002332456

NM_000249.4(MLH1):c.1279C>T (p.Gln427Ter)

SNV
Germline

Chr3:37025877

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352053041

rs_1559553501

5 SubmittersRCV000692188 RCV002307594 RCV002386200 RCV003453448 RCV003999578

NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg)

SNV
Germline

Chr7:5986994

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA045524

rs_764252217

8 SubmittersRCV000693132 RCV000772031 RCV001358468 RCV001816711 RCV004742579

NM_000535.7(PMS2):c.1297A>G (p.Lys433Glu)

SNV
Germline

Chr7:5987468

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366742389

rs_863224496

3 SubmittersRCV000700268 RCV002386238 RCV003999704

NM_000535.7(PMS2):c.251-1G>T

SNV
Germline

Chr7:6003793

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744734

rs_764171734

3 SubmittersRCV000689815 RCV002424609 RCV003453438

NM_000535.7(PMS2):c.2275+2T>C

SNV
Germline

Chr7:5978594

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
PMS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA366736378

rs_1562604682

4 SubmittersRCV000702280 RCV002442511 RCV003453491 RCV003420251

NM_000535.7(PMS2):c.1201G>C (p.Asp401His)

SNV
Germline

Chr7:5987564

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366742578

rs_1284362486

4 SubmittersRCV000705206 RCV000772183 RCV003999763

NM_000535.7(PMS2):c.804-1G>A

SNV
Germline/somatic

Chr7:5995634

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366743589

rs_1562664845

7 SubmittersRCV000694626 RCV000758693 RCV001027099 RCV003453458 RCV004719953

NM_000535.7(PMS2):c.634C>T (p.Gln212Ter)

SNV
Germline

Chr7:5999179

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743945

rs_1562678257

5 SubmittersRCV000696743 RCV000777285 RCV003231588 RCV003453466

NM_000179.3(MSH6):c.2622C>T (p.Ile874=)

SNV
Germline

Chr2:47800605

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121889

rs_1200093419

6 SubmittersRCV000708717 RCV001592913 RCV002060883 RCV005422949

NM_000179.3(MSH6):c.2665C>T (p.Gln889Ter)

SNV
Germline

Chr2:47800648

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346755221

rs_1558666177

5 SubmittersRCV000708612 RCV003453510 RCV003758910 RCV003999789

NM_000535.7(PMS2):c.1414A>T (p.Lys472Ter)

SNV
Germline

Chr7:5987351

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366742066

rs_1562633172

4 SubmittersRCV000708623 RCV002534479 RCV005357953

NM_000535.7(PMS2):c.852A>G (p.Ser284=)

SNV
Germline

Chr7:5995585

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA052002

rs_766177007

6 SubmittersRCV000708735 RCV000872839 RCV003999790 RCV005422951

NM_000251.3(MSH2):c.64T>A (p.Phe22Ile)

SNV
Germline

Chr2:47403255

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346728621

rs_1189127007

3 SubmittersRCV000708824 RCV001052926 RCV002360839

NM_000251.3(MSH2):c.2012A>G (p.Asn671Ser)

SNV
Germline

Chr2:47476373

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729083

rs_1558519505

6 SubmittersRCV000708839 RCV001014077 RCV001064045 RCV005601087

NM_000251.3(MSH2):c.2766T>G (p.Phe922Leu)

SNV
Germline

Chr2:47482910

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346732071

rs_55859129

5 SubmittersRCV000708847 RCV002440558 RCV003758911 RCV004997219

NM_000179.3(MSH6):c.923G>C (p.Gly308Ala)

SNV
Germline

Chr2:47798906

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346740745

rs_1553412354

3 SubmittersRCV000708860 RCV001861934 RCV004944132

NM_000179.3(MSH6):c.2752C>T (p.His918Tyr)

SNV
Germline

Chr2:47800735

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346755422

rs_1558666591

8 SubmittersRCV000734437 RCV001047029 RCV000986726 RCV001016502

NM_000249.4(MLH1):c.1453G>T (p.Asp485Tyr)

SNV
Germline

Chr3:37028827

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
not specified

Criteria Provided
Conflicting Classifications

CA352056312

rs_63750314

9 SubmittersRCV000708925 RCV001011662 RCV001057018 RCV001358006 RCV003460992 RCV004782523

NM_000535.7(PMS2):c.825A>T (p.Gln275His)

SNV
Germline

Chr7:5995612

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366743542

rs_876659736

7 SubmittersRCV000987842 RCV001046149 RCV001188465 RCV003156288 RCV004807113

NM_000251.3(MSH2):c.1015C>T (p.Gln339Ter)

SNV
Germline

Chr2:47416368

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346733150

rs_1558466577

4 SubmittersRCV000755026 RCV002334414

NM_000179.3(MSH6):c.2092C>T (p.Gln698Ter)

SNV
Germline

Chr2:47800075

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346750867

rs_63750832

4 SubmittersRCV000755028 RCV002282352 RCV002536550 RCV003453537

NM_000179.3(MSH6):c.3820G>T (p.Glu1274Ter)

SNV
Germline

Chr2:47806470

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346761248

rs_587779294

2 SubmittersRCV000755029 RCV002352259

NM_000251.3(MSH2):c.432C>T (p.Ser144=)

SNV
Germline/somatic

Chr2:47410159

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA426119468

rs_1558459072

3 SubmittersRCV000758660 RCV001404011 RCV002332539

NM_000251.3(MSH2):c.480G>T (p.Gln160His)

SNV
Germline/somatic

Chr2:47410207

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346730604

rs_1558459273

2 SubmittersRCV000758587 RCV002334420

NM_000251.3(MSH2):c.1071G>A (p.Glu357=)

SNV
Germline/somatic

Chr2:47416424

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA425973309

rs_587781617

6 SubmittersRCV000758661 RCV004027162 RCV003768276 RCV005249033 RCV005367534

NM_000251.3(MSH2):c.2095T>C (p.Ser699Pro)

SNV
Germline/somatic

Chr2:47476456

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA346729226

rs_1428704795

3 SubmittersRCV000758655 RCV004027161 RCV005392353

NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg)

SNV
Germline/somatic

Chr2:47478421

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346730002

rs_1558521929

4 SubmittersRCV000758593 RCV001269395 RCV003453545 RCV002442567

NM_000179.3(MSH6):c.133G>T (p.Gly45Cys)

SNV
Germline/somatic

Chr2:47783366

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346734898

rs_978968846

3 SubmittersRCV000758663 RCV002386319 RCV006612484

NM_000179.3(MSH6):c.911T>C (p.Val304Ala)

SNV
Germline/somatic

Chr2:47798894

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346740720

rs_1481054050

2 SubmittersRCV000758603 RCV004027158

NM_000179.3(MSH6):c.971A>G (p.Lys324Arg)

SNV
Germline/somatic

Chr2:47798954

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346740950

rs_1558659961

3 SubmittersRCV000758604 RCV001301123 RCV004027159

NM_000179.3(MSH6):c.1207C>A (p.Leu403Ile)

SNV
Germline/somatic

Chr2:47799190

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346743464

rs_876659223

2 SubmittersRCV000758609 RCV002343610

NM_000179.3(MSH6):c.1290G>A (p.Gly430=)

SNV
Germline/somatic

Chr2:47799273

Conflicting classifications of pathogenicity

Lynch syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426120895

rs_1558661242

4 SubmittersRCV000758621 RCV001194364 RCV002533819 RCV005422954

NM_000179.3(MSH6):c.1401C>T (p.Gly467=)

SNV
Somatic

Chr2:47799384

Conflicting classifications of pathogenicity

Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121155

rs_1558661556

2 SubmittersRCV000758622 RCV005427250

NM_000179.3(MSH6):c.1904G>A (p.Arg635Lys)

SNV
Germline/somatic

Chr2:47799887

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346750130

rs_1558663439

2 SubmittersRCV000758612 RCV000819245

NM_000179.3(MSH6):c.3185G>A (p.Cys1062Tyr)

SNV
Germline/somatic

Chr2:47803432

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346757836

rs_1558386797

2 SubmittersRCV000758678 RCV002325458

NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp)

SNV
Germline/somatic

Chr2:47804941

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346760094

rs_752212361

6 SubmittersRCV000758614 RCV001175727 RCV003453547 RCV004788156 RCV005092182

NM_000179.3(MSH6):c.3963A>G (p.Arg1321=)

SNV
Germline/somatic

Chr2:47806613

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA426122191

rs_267608125

2 SubmittersRCV000758627 RCV001805839

NM_000179.3(MSH6):c.3964G>A (p.Glu1322Lys)

SNV
Germline/somatic

Chr2:47806614

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346761549

rs_1553333707

3 SubmittersRCV000758616 RCV001021540 RCV005092183

NM_000179.3(MSH6):c.4018A>G (p.Ser1340Gly)

SNV
Germline/somatic

Chr2:47806795

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346761651

rs_1558395603

2 SubmittersRCV000758617 RCV001021668

NM_000249.4(MLH1):c.3G>T (p.Met1Ile)

SNV
Somatic

Chr3:36993550

Likely pathogenic

Lynch syndrome
Lynch-like syndrome

Criteria Provided
Single Submitter

CA352059802

rs_72481822

2 SubmittersRCV000758583 RCV001249905

NM_000249.4(MLH1):c.100G>A (p.Glu34Lys)

SNV
Germline/somatic

Chr3:36993647

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA352061093

rs_1559500884

4 SubmittersRCV000758634 RCV001016980 RCV003594028 RCV005601093

NM_000249.4(MLH1):c.113A>C (p.Asn38Thr)

SNV
Germline/somatic

Chr3:36993660

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA352061233

rs_587778888

2 SubmittersRCV000758567 RCV002458360

NM_000249.4(MLH1):c.131C>A (p.Ser44Tyr)

SNV
Germline/somatic

Chr3:36996633

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA352035364

rs_63751109

3 SubmittersRCV000758568 RCV002386318 RCV004773125

NM_000249.4(MLH1):c.1960C>T (p.Pro654Ser)

SNV
Germline/somatic

Chr3:37048580

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA352065821

rs_1559591314

3 SubmittersRCV000758635 RCV002422642 RCV003117543

NM_000249.4(MLH1):c.1979T>C (p.Leu660Pro)

SNV
Germline/somatic

Chr3:37048599

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA352065930

rs_1559591546

2 SubmittersRCV000758636 RCV001855909

NM_000535.7(PMS2):c.2075A>G (p.Asn692Ser)

SNV
Germline/somatic

Chr7:5982923

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA366738055

rs_1562615666

3 SubmittersRCV000758681 RCV003584736 RCV005367535

NM_000535.7(PMS2):c.475G>C (p.Val159Leu)

SNV
Germline/somatic

Chr7:6002515

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA366744280

rs_142416537

3 SubmittersRCV000758688 RCV001236201 RCV005401601

NM_000535.7(PMS2):c.195T>C (p.Leu65=)

SNV
Germline/somatic

Chr7:6004027

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA045985

rs_780080040

4 SubmittersRCV000758632 RCV002422641 RCV005422955

NM_000251.3(MSH2):c.366+2T>C

SNV
Germline/somatic

Chr2:47408557

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346730175

rs_1558457533

2 SubmittersRCV000758597 RCV002458361

NM_000251.3(MSH2):c.1277-2A>T

SNV
Germline/somatic

Chr2:47445546

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346724480

rs_267607949

2 SubmittersRCV000758598 RCV002370011

NM_000251.3(MSH2):c.1511-1G>A

SNV
Germline/somatic

Chr2:47466657

Pathogenic/Likely pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346727701

rs_267607964

4 SubmittersRCV000758599 RCV003453546 RCV002388377

NM_000251.3(MSH2):c.2006-1G>T

SNV
Germline/somatic

Chr2:47476366

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346729074

rs_267607988

5 SubmittersRCV000758657 RCV001187975 RCV003453554 RCV004596334

NM_000251.3(MSH2):c.2458+2T>C

SNV
Germline/somatic

Chr2:47478521

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730325

rs_1278858560

3 SubmittersRCV000758658 RCV001015600 RCV003453555

NM_000251.3(MSH2):c.2634+2T>C

SNV
Germline/somatic

Chr2:47480873

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346731197

rs_876660546

2 SubmittersRCV000758659 RCV002458362

NM_000179.3(MSH6):c.457G>T (p.Gly153Cys)

SNV
Germline/somatic

Chr2:47791123

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346737211

rs_1060502885

2 SubmittersRCV000758620 RCV002334421

NM_000179.3(MSH6):c.3438+2T>C

SNV
Germline/somatic

Chr2:47803687

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA46716168

rs_1033749344

4 SubmittersRCV000758618 RCV001020307 RCV001377436 RCV003453548

NM_000179.3(MSH6):c.3801+2T>C

SNV
Germline/somatic

Chr2:47806360

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346761204

rs_1558392617

3 SubmittersRCV000758619 RCV001021190 RCV003453549

NM_000249.4(MLH1):c.380+1G>T

SNV
Germline/somatic

Chr3:37004475

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA352038068

rs_267607745

4 SubmittersRCV000758639 RCV002352267 RCV003453550 RCV005092184

NM_000249.4(MLH1):c.453+2T>G

SNV
Somatic

Chr3:37007065

Pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA352039458

rs_267607751

2 SubmittersRCV000758640 RCV003453551

NM_000249.4(MLH1):c.589-2A>C

SNV
Somatic

Chr3:37012009

Likely pathogenic

Lynch syndrome

Criteria Provided
Single Submitter

CA352042278

rs_267607767

1 SubmittersRCV000758641

NM_000249.4(MLH1):c.678-1G>A

SNV
Germline/somatic

Chr3:37014431

Pathogenic/Likely pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Cervical cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA352043457

rs_267607784

7 SubmittersRCV000758642 RCV001724148 RCV002360870 RCV003453552 RCV005897319

NM_000249.4(MLH1):c.790+5G>A

SNV
Germline/somatic

Chr3:37014549

Pathogenic/Likely pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA645534150

rs_267607771

4 SubmittersRCV000758644 RCV003453553 RCV004027160 RCV005357985

NM_000249.4(MLH1):c.2104-1G>A

SNV
Germline/somatic

Chr3:37050485

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352068712

rs_587778978

4 SubmittersRCV000758582 RCV001211814 RCV001249940 RCV002422640

NM_000251.3(MSH2):c.1677A>C (p.Leu559Phe)

SNV
Germline

Chr2:47470980

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728061

rs_1558514500

4 SubmittersRCV000759823 RCV000777627 RCV003999907

NM_000179.3(MSH6):c.1255C>T (p.Gln419Ter)

SNV
Germline

Chr2:47799238

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346743880

rs_762814792

3 SubmittersRCV000759842 RCV002422646 RCV003453558

NM_000179.3(MSH6):c.1901T>A (p.Leu634Ter)

SNV
Germline

Chr2:47799884

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA46709903

rs_63751097

7 SubmittersRCV000759849 RCV001061933 RCV001805840 RCV003453560 RCV003999908

NM_000179.3(MSH6):c.3990A>G (p.Leu1330=)

SNV
Germline

Chr2:47806640

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426122220

rs_1558394684

5 SubmittersRCV000759148 RCV001464497 RCV002222622 RCV003166012 RCV005427251

NM_000535.7(PMS2):c.375C>A (p.Cys125Ter)

SNV
Germline

Chr7:6002615

Pathogenic/Likely pathogenic

Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744474

rs_1562690527

2 SubmittersRCV000759920 RCV003453565

NM_000251.3(MSH2):c.792+2T>G

SNV
Germline

Chr2:47412562

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346732547

rs_587782408

3 SubmittersRCV000759123 RCV002422644 RCV003453556

NM_000251.3(MSH2):c.1277-6T>C

SNV
Germline

Chr2:47445542

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA532338036

rs_1412438412

2 SubmittersRCV000759098 RCV005249034

NM_000251.3(MSH2):c.2005+10C>T

SNV
Germline

Chr2:47475280

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA913189961

rs_1558518671

3 SubmittersRCV000759106 RCV001475104 RCV005249035

NM_000179.3(MSH6):c.3556+3G>A

SNV
Germline

Chr2:47805030

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA913189357

rs_1057521667

5 SubmittersRCV000759143 RCV001203414 RCV003584737 RCV005422956

NM_000535.7(PMS2):c.1144+1G>C

SNV
Germline

Chr7:5989799

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA366742716

rs_373885654

6 SubmittersRCV000759912 RCV001378056 RCV003303232 RCV003453563 RCV004800569

NM_000535.7(PMS2):c.730C>T (p.Gln244Ter)

SNV
Germline

Chr7:5997399

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743749

rs_1562671039

8 SubmittersRCV000760335 RCV001026254 RCV001221708 RCV003453566 RCV005411555

NM_000251.3(MSH2):c.1156G>A (p.Asp386Asn)

SNV
Germline

Chr2:47429821

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346733690

rs_1419725521

3 SubmittersRCV000761062 RCV001219957 RCV002352272

NM_000179.3(MSH6):c.1657A>C (p.Thr553Pro)

SNV
Germline

Chr2:47799640

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA346747306

rs_1294509946

4 SubmittersRCV000761060 RCV001855936 RCV003166021 RCV003461020

NM_000251.3(MSH2):c.242G>C (p.Ser81Thr)

SNV
Germline

Chr2:47408431

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729509

rs_1064793491

5 SubmittersRCV000771426 RCV001215145 RCV001772025 RCV003999953

NM_000251.3(MSH2):c.605C>T (p.Pro202Leu)

SNV
Germline

Chr2:47410332

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colon cancer
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346731077

rs_1060502002

6 SubmittersRCV000777440 RCV000802482 RCV002245663 RCV004001498 RCV004569481

NM_000251.3(MSH2):c.958A>G (p.Thr320Ala)

SNV
Germline

Chr2:47416311

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA041811

rs_368982417

5 SubmittersRCV000771481 RCV001044734 RCV003999955 RCV003492163

NM_000251.3(MSH2):c.1615T>C (p.Phe539Leu)

SNV
Germline

Chr2:47466762

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346727924

rs_1558511106

4 SubmittersRCV000773929 RCV002290018 RCV004001338

NM_000251.3(MSH2):c.2268C>G (p.Thr756=)

SNV
Germline

Chr2:47478329

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA426120149

rs_1404389752

7 SubmittersRCV000776917 RCV001054859 RCV003456428 RCV005249064 RCV005367547

NM_000251.3(MSH2):c.2439G>C (p.Met813Ile)

SNV
Germline

Chr2:47478500

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Malignant tumor of breast
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA46705323

rs_587781678

6 SubmittersRCV000777250 RCV000807280 RCV001175571 RCV001356219 RCV003336181

NM_000179.3(MSH6):c.178T>G (p.Leu60Val)

SNV
Germline

Chr2:47783411

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346735009

rs_35819209

3 SubmittersRCV000774981 RCV004001424

NM_000179.3(MSH6):c.325C>T (p.Leu109=)

SNV
Germline

Chr2:47790991

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA425989366

rs_1064793870

6 SubmittersRCV000773970 RCV000942154 RCV004807144 RCV006261034 RCV005422976

NM_000179.3(MSH6):c.643G>C (p.Val215Leu)

SNV
Germline

Chr2:47798626

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073290

rs_145959653

5 SubmittersRCV000773188 RCV003117558 RCV003148860 RCV004807139

NM_000179.3(MSH6):c.1097A>G (p.Tyr366Cys)

SNV
Germline

Chr2:47799080

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346741890

rs_1482767334

4 SubmittersRCV000773039 RCV001065372 RCV001175269

NM_000179.3(MSH6):c.3930G>A (p.Glu1310=)

SNV
Germline

Chr2:47806580

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426122168

rs_267608129

7 SubmittersRCV000773996 RCV000780474 RCV002067281 RCV003478463 RCV004001341 RCV005422977

NM_000179.3(MSH6):c.4065T>C (p.Thr1355=)

SNV
Germline

Chr2:47806842

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA426122290

rs_766073664

3 SubmittersRCV000773387 RCV005422970 RCV006261030

NM_000179.3(MSH6):c.*2C>T

SNV
Germline

Chr2:47806862

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA069945

rs_752809310

4 SubmittersRCV000773084 RCV004773129 RCV004807138 RCV005427261

NM_000249.4(MLH1):c.1325C>A (p.Ala442Asp)

SNV
Germline

Chr3:37025923

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352053491

rs_765563111

6 SubmittersRCV000773778 RCV000811634 RCV003465695 RCV004807142

NM_000249.4(MLH1):c.*6G>T

SNV
Germline

Chr3:37050659

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA913188142

rs_1559597540

3 SubmittersRCV000777335 RCV004001496 RCV005249070

NM_000535.7(PMS2):c.1068G>A (p.Lys356=)

SNV
Germline

Chr7:5989876

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA153230640

rs_528499793

7 SubmittersRCV000775365 RCV000938343 RCV001086951 RCV004001449 RCV005427282

NM_000535.7(PMS2):c.939T>A (p.Tyr313Ter)

SNV
Germline

Chr7:5992022

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743155

rs_1562651617

3 SubmittersRCV000776748 RCV003461041

NM_000535.7(PMS2):c.63G>A (p.Lys21=)

SNV
Germline

Chr7:6005992

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453650331

rs_772643900

5 SubmittersRCV000771503 RCV001436197 RCV001775986 RCV005422957

NM_000251.3(MSH2):c.1077-17A>C

SNV
Germline

Chr2:47429725

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA913187926

rs_1558478062

3 SubmittersRCV000773668 RCV005249047 RCV006612495

NM_000251.3(MSH2):c.1662-7T>C

SNV
Germline

Chr2:47470958

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA913187951

rs_1558514428

5 SubmittersRCV000772983 RCV001280559 RCV001800871 RCV001398139 RCV005249044

NM_000179.3(MSH6):c.261-6C>G

SNV
Germline

Chr2:47790921

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA913187984

rs_1558651835

4 SubmittersRCV000772888 RCV001789783 RCV002067257

NM_000249.4(MLH1):c.1990-1G>C

SNV
Germline

Chr3:37048903

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352067555

rs_267607884

5 SubmittersRCV000772614 RCV001036557 RCV001310199 RCV002477757

NM_000535.7(PMS2):c.353+7C>T

SNV
Germline

Chr7:6003683

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA913188251

rs_1057520512

4 SubmittersRCV000772826 RCV001398097 RCV003478459 RCV005427258

NM_000535.7(PMS2):c.804-4A>C

SNV
Germline

Chr7:5995637

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA840185458

rs_1475598645

4 SubmittersRCV000772967 RCV002534046 RCV005422967

NM_000251.3(MSH2):c.1819A>G (p.Ser607Gly)

SNV
Germline

Chr2:47475084

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA031564

rs_772991620

6 SubmittersRCV000780460 RCV002406710 RCV002535673 RCV003461053

NM_000179.3(MSH6):c.3567A>G (p.Thr1189=)

SNV
Germline

Chr2:47805628

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA071398

rs_754959739

5 SubmittersRCV000781583 RCV001873192 RCV002334458 RCV004997310 RCV005423008

NM_000249.4(MLH1):c.1706C>T (p.Ala569Val)

SNV
Germline

Chr3:37042306

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352062045

rs_1559578814

7 SubmittersRCV000780416 RCV000985778 RCV001066113 RCV001182842 RCV003467309 RCV004001518

NM_000249.4(MLH1):c.2161T>C (p.Tyr721His)

SNV
Germline

Chr3:37050543

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA352069255

rs_1453792999

7 SubmittersRCV000781533 RCV000793117 RCV001188243 RCV004001533 RCV004768643

NM_000251.3(MSH2):c.2083G>A (p.Val695Met)

SNV
Germline

Chr2:47476444

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Reviewed By Expert Panel

CA346729205

rs_772491283

6 SubmittersRCV000781997 RCV001014369 RCV004789180 RCV005359523 RCV005092336 RCV006261058

NM_000179.3(MSH6):c.1252T>C (p.Ser418Pro)

SNV
Germline

Chr2:47799235

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA346743849

rs_1251033858

1 SubmittersRCV000781998

NM_000179.3(MSH6):c.1439T>A (p.Val480Glu)

SNV
Germline

Chr2:47799422

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA346745598

rs_1244531716

1 SubmittersRCV000781993

NM_000249.4(MLH1):c.543C>G (p.Gly181=)

SNV
Germline

Chr3:37008903

Likely pathogenic

Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA433067579

rs_1481129490

3 SubmittersRCV000781999 RCV003453614 RCV006464220

NM_000249.4(MLH1):c.543C>T (p.Gly181=)

SNV
Germline

Chr3:37008903

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA433067580

rs_1481129490

6 SubmittersRCV000782000 RCV001024107 RCV003453615 RCV006464221 RCV005863267

NM_000251.3(MSH2):c.2211-1G>A

SNV
Germline

Chr2:47478271

Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346729646

rs_267607979

6 SubmittersRCV000786796 RCV001378014 RCV002424783 RCV003453621 RCV004001545

NM_000321.3(RB1):c.273T>A (p.Tyr91Ter)

SNV
Germline

Chr13:48342607

Likely pathogenic

Lynch syndrome 4

No Assertion Criteria Provided

CA388252324

rs_750136284

1 SubmittersRCV000786881

NM_000535.7(PMS2):c.451C>G (p.Arg151Gly)

SNV
Germline

Chr7:6002539

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366744323

rs_758561884

4 SubmittersRCV001022626 RCV000993767 RCV002535819 RCV003467323

NM_000179.3(MSH6):c.619G>T (p.Glu207Ter)

SNV
Germline

Chr2:47796055

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346738899

rs_1322095633

1 SubmittersRCV000791336

NM_000251.3(MSH2):c.18G>C (p.Lys6Asn)

SNV
Germline

Chr2:47403209

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46666424

rs_146017810

3 SubmittersRCV000809070 RCV003307495 RCV004001707

NM_000251.3(MSH2):c.56T>C (p.Phe19Ser)

SNV
Germline

Chr2:47403247

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346728591

rs_1320061495

5 SubmittersRCV000805682 RCV001024434 RCV002291700 RCV004761795

NM_000251.3(MSH2):c.198C>A (p.Tyr66Ter)

SNV
Germline/somatic

Chr2:47403389

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch-like syndrome
Lynch syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346729043

rs_730881784

6 SubmittersRCV000799705 RCV001013932 RCV001250031 RCV003453663 RCV005367566 RCV005623369

NM_000251.3(MSH2):c.242G>A (p.Ser81Asn)

SNV
Germline

Chr2:47408431

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA346729508

rs_1064793491

3 SubmittersRCV000824404 RCV002453906 RCV003483745

NM_000251.3(MSH2):c.250A>T (p.Asn84Tyr)

SNV
Germline

Chr2:47408439

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346729528

rs_1573436418

5 SubmittersRCV000820762 RCV003307549 RCV004569757 RCV004723243

NM_000251.3(MSH2):c.713A>T (p.Tyr238Phe)

SNV
Germline

Chr2:47412481

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346732076

rs_1553351618

3 SubmittersRCV000793508 RCV004569519 RCV005443153

NM_000251.3(MSH2):c.832G>T (p.Glu278Ter)

SNV
Germline

Chr2:47414308

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346732804

rs_1558464008

4 SubmittersRCV000794209 RCV001017577 RCV001811486 RCV003453641

NM_000251.3(MSH2):c.998G>T (p.Cys333Phe)

SNV
Germline

Chr2:47416351

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346733123

rs_63750828

4 SubmittersRCV000791505 RCV002249499 RCV002386370

NM_000251.3(MSH2):c.1294T>A (p.Leu432Met)

SNV
Germline

Chr2:47445565

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346724524

rs_937218360

5 SubmittersRCV000821073 RCV001010808 RCV002268314 RCV003328634 RCV004569758

NM_000251.3(MSH2):c.1763A>G (p.Tyr588Cys)

SNV
Germline

Chr2:47475028

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728256

rs_1236199597

4 SubmittersRCV000791934 RCV001176328 RCV004807173

NM_000251.3(MSH2):c.1939G>T (p.Glu647Ter)

SNV
Germline

Chr2:47475204

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA46700508

rs_63750078

3 SubmittersRCV000822443 RCV003453729 RCV003584767

NM_000251.3(MSH2):c.2043A>C (p.Gln681His)

SNV
Germline

Chr2:47476404

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA033402

rs_730881763

4 SubmittersRCV000814388 RCV002422813 RCV003324799 RCV004001761

NM_000251.3(MSH2):c.2063T>C (p.Met688Thr)

SNV
Germline

Chr2:47476424

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729169

rs_63749993

4 SubmittersRCV000823002 RCV002415942 RCV003467514 RCV004002849

NM_000251.3(MSH2):c.2307C>G (p.Tyr769Ter)

SNV
Germline

Chr2:47478368

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346729871

rs_1573574086

4 SubmittersRCV000820262 RCV002427049 RCV003453724 RCV006261117

NM_000251.3(MSH2):c.2380A>C (p.Ile794Leu)

SNV
Germline

Chr2:47478441

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730100

rs_1553369778

6 SubmittersRCV000816114 RCV003166350 RCV004997375 RCV004807202

NM_000251.3(MSH2):c.2401C>T (p.His801Tyr)

SNV
Germline

Chr2:47478462

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730189

rs_1573574512

4 SubmittersRCV000822968 RCV001354587 RCV003169045 RCV004807207

NM_000251.3(MSH2):c.2626G>T (p.Glu876Ter)

SNV
Germline

Chr2:47480863

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA501122

rs_1573579206

4 SubmittersRCV000798885 RCV002424839 RCV003453655

NM_000251.3(MSH2):c.2755A>G (p.Asn919Asp)

SNV
Germline

Chr2:47482899

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA346731971

rs_1573582795

3 SubmittersRCV000798036 RCV002440652 RCV005367563

NM_000179.3(MSH6):c.463A>T (p.Lys155Ter)

SNV
Germline

Chr2:47795899

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346738566

rs_1276159036

2 SubmittersRCV000808014 RCV004028636

NM_000179.3(MSH6):c.942C>A (p.Ser314Arg)

SNV
Germline

Chr2:47798925

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346740781

rs_150440246

2 SubmittersRCV000804626 RCV005423019

NM_000179.3(MSH6):c.1146C>G (p.His382Gln)

SNV
Germline

Chr2:47799129

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346742177

rs_1572721856

5 SubmittersRCV000811454 RCV001017459 RCV001192455 RCV003338818 RCV004807195

NM_000179.3(MSH6):c.1281C>G (p.Tyr427Ter)

SNV
Germline

Chr2:47799264

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346744122

rs_1553412720

2 SubmittersRCV000815858 RCV003453715

NM_000179.3(MSH6):c.2039C>T (p.Ala680Val)

SNV
Germline

Chr2:47800022

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346750742

rs_1558664035

4 SubmittersRCV000807134 RCV001014157 RCV004807190

NM_000179.3(MSH6):c.2282G>C (p.Arg761Thr)

SNV
Germline

Chr2:47800265

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA068739

rs_587779233

6 SubmittersRCV000793348 RCV001193700 RCV001190571 RCV001257482 RCV003314645

NM_000179.3(MSH6):c.2295C>A (p.Cys765Ter)

SNV
Germline

Chr2:47800278

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346752979

rs_63750985

6 SubmittersRCV000806058 RCV001184647 RCV003453682 RCV003489898 RCV004569629

NM_000179.3(MSH6):c.2426T>C (p.Val809Ala)

SNV
Germline

Chr2:47800409

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA069038

rs_775815297

4 SubmittersRCV000812013 RCV001257480 RCV002453838

NM_000179.3(MSH6):c.2492C>T (p.Pro831Leu)

SNV
Germline

Chr2:47800475

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346754216

rs_1558665602

4 SubmittersRCV000822647 RCV002427067 RCV005861179 RCV006279252

NM_000179.3(MSH6):c.2570A>G (p.Asp857Gly)

SNV
Germline

Chr2:47800553

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA069204

rs_758176077

3 SubmittersRCV000814142 RCV002424917 RCV003315443

NM_000179.3(MSH6):c.2982C>G (p.Tyr994Ter)

SNV
Germline

Chr2:47800965

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756362

rs_367758473

3 SubmittersRCV000803777 RCV002440701 RCV003453677

NM_000179.3(MSH6):c.3021G>A (p.Trp1007Ter)

SNV
Germline

Chr2:47801004

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346756440

rs_587779253

4 SubmittersRCV000811578 RCV002440757 RCV003453698 RCV004569673

NM_000179.3(MSH6):c.3674C>A (p.Thr1225Lys)

SNV
Germline

Chr2:47806231

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071830

rs_63750370

4 SubmittersRCV000791493 RCV002458409 RCV004001554

NM_000179.3(MSH6):c.3749A>G (p.His1250Arg)

SNV
Germline

Chr2:47806306

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071947

rs_749129928

4 SubmittersRCV000820494 RCV001021035 RCV004002824

NM_000179.3(MSH6):c.3793G>T (p.Gly1265Ter)

SNV
Germline

Chr2:47806350

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346761183

rs_754469538

3 SubmittersRCV000806883 RCV002352387 RCV003453684

NM_000179.3(MSH6):c.3940C>G (p.Gln1314Glu)

SNV
Germline

Chr2:47806590

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346761500

rs_1416452389

5 SubmittersRCV000802917 RCV001021479 RCV002271587 RCV004001655

NM_000249.4(MLH1):c.1060G>A (p.Gly354Ser)

SNV
Germline

Chr3:37025658

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027035

rs_752962453

6 SubmittersRCV000815372 RCV001264495 RCV001009815 RCV002249525 RCV004001776

NM_000249.4(MLH1):c.1989G>C (p.Glu663Asp)

SNV
Germline

Chr3:37048609

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352065997

rs_63751662

3 SubmittersRCV000791765 RCV002422677 RCV004001556

NM_000535.7(PMS2):c.2534A>G (p.His845Arg)

SNV
Germline

Chr7:5973454

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366734848

rs_1554292741

4 SubmittersRCV000819801 RCV002427044 RCV003315255 RCV003453723

NM_000535.7(PMS2):c.1708A>C (p.Asn570His)

SNV
Germline

Chr7:5987057

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366741113

rs_115670442

4 SubmittersRCV000823449 RCV001012759 RCV004002854

NM_000535.7(PMS2):c.1306A>G (p.Ser436Gly)

SNV
Germline

Chr7:5987459

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366742370

rs_1583321782

5 SubmittersRCV000810873 RCV001193856 RCV002381802 RCV004807194

NM_000535.7(PMS2):c.478C>T (p.Gln160Ter)

SNV
Germline

Chr7:6002512

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744275

rs_36038802

4 SubmittersRCV000814188 RCV002332681 RCV003453711

NM_000535.7(PMS2):c.364A>G (p.Ile122Val)

SNV
Germline

Chr7:6002626

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA049575

rs_761748894

4 SubmittersRCV000806193 RCV002345813 RCV004807189 RCV004569630

NM_000179.3(MSH6):c.458-1G>T

SNV
Germline

Chr2:47795893

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346738554

rs_267608035

2 SubmittersRCV000803405 RCV003453672

NM_000179.3(MSH6):c.3556+1G>T

SNV
Germline

Chr2:47805028

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Lynch syndrome 5
Gastric cancer
MSH6-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346760281

rs_1060502926

7 SubmittersRCV000800963 RCV000826201 RCV001574493 RCV003453666 RCV003166197 RCV004723203 RCV005682399

NM_000251.3(MSH2):c.1276+5C>G

SNV
Germline

Chr2:47429946

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA027587

rs_755284496

3 SubmittersRCV000812111 RCV002370187 RCV005249091

NM_000179.3(MSH6):c.627+1G>A

SNV
Germline

Chr2:47796064

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346738919

rs_1572716545

3 SubmittersRCV000798211 RCV003453653 RCV005367564

NM_000249.4(MLH1):c.380+5A>G

SNV
Germline

Chr3:37004479

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA906764126

rs_1267759029

5 SubmittersRCV000791483 RCV001356888 RCV003344041 RCV005249076 RCV004807171

NM_000535.7(PMS2):c.2275+1G>C

SNV
Germline

Chr7:5978595

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366736385

rs_1554294393

5 SubmittersRCV000823059 RCV003453733 RCV002442765

NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter)

SNV
Germline

Chr2:47783257

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346734503

rs_746306598

4 SubmittersRCV000825599 RCV002427080 RCV002536057 RCV003453747

NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)

SNV
Germline

Chr2:47806602

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346761526

rs_1572747685

5 SubmittersRCV000826178 RCV002352477 RCV003453759 RCV003594042 RCV006605305

NM_000249.4(MLH1):c.885-12T>C

SNV
Germline

Chr3:37020298

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA915942344

rs_1575508554

5 SubmittersRCV000827271 RCV002442771 RCV003758939 RCV004807211 RCV005249098

NM_000535.7(PMS2):c.164-11A>T

SNV
Germline

Chr7:6004069

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA044838

rs_763662038

5 SubmittersRCV000841657 RCV001192086 RCV002067539 RCV005423034

NM_000179.3(MSH6):c.2842G>T (p.Glu948Ter)

SNV
Germline

Chr2:47800825

Pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA346755807

rs_1572728898

2 SubmittersRCV000856619 RCV002434052

NM_000179.3(MSH6):c.3804A>G (p.Ala1268=)

SNV
Germline

Chr2:47806454

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426122103

rs_1572746044

6 SubmittersRCV000862856 RCV001021193 RCV001193727 RCV004002921 RCV005423040

NM_000251.3(MSH2):c.1635G>A (p.Gln545=)

SNV
Germline

Chr2:47466782

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA425965626

rs_1558511163

4 SubmittersRCV000866579 RCV002390773 RCV005249163 RCV005359627

NM_000535.7(PMS2):c.2301G>T (p.Leu767=)

SNV
Germline

Chr7:5977732

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA453642472

rs_1554293987

3 SubmittersRCV000871144 RCV005427336 RCV006545628

NM_000535.7(PMS2):c.33T>A (p.Pro11=)

SNV
Germline

Chr7:6006022

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA049240

rs_780178572

8 SubmittersRCV000871219 RCV001020203 RCV003478548 RCV004807218 RCV005423058

NM_000535.7(PMS2):c.2505G>T (p.Gly835=)

SNV
Germline

Chr7:5973483

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453642087

rs_1583269666

5 SubmittersRCV000892403 RCV002427247 RCV006453453 RCV005423081

NM_000251.3(MSH2):c.2553T>G (p.Leu851=)

SNV
Germline

Chr2:47480790

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA1649292

rs_1553370386

5 SubmittersRCV000917330 RCV001015910 RCV001142094

NM_000179.3(MSH6):c.2067C>T (p.Phe689=)

SNV
Germline

Chr2:47800050

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121398

rs_1572725594

4 SubmittersRCV000921162 RCV001284180 RCV005367628 RCV005427372

NM_000251.3(MSH2):c.943-5A>G

SNV
Germline

Chr2:47416291

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Malignant tumor of urinary bladder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA769457476

rs_1057521671

5 SubmittersRCV000920201 RCV002445021 RCV005249306 RCV005903074 RCV005367626

NM_000251.3(MSH2):c.135G>C (p.Ala45=)

SNV
Germline

Chr2:47403326

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426119436

rs_890172773

5 SubmittersRCV000929209 RCV001079006 RCV002382104 RCV005249322

NM_000251.3(MSH2):c.189G>C (p.Val63=)

SNV
Germline

Chr2:47403380

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA426119498

rs_1283798201

5 SubmittersRCV001013554 RCV001434580 RCV005249391 RCV006261181

NM_000179.3(MSH6):c.195A>G (p.Ser65=)

SNV
Germline

Chr2:47783428

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA426120768

rs_1572698398

2 SubmittersRCV004003249 RCV005092821

NM_000179.3(MSH6):c.243G>C (p.Ala81=)

SNV
Germline

Chr2:47783476

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426120869

rs_1057523564

4 SubmittersRCV000938012 RCV001015548 RCV004003299 RCV005423150

NM_000179.3(MSH6):c.520A>C (p.Arg174=)

SNV
Germline

Chr2:47795956

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA425992849

rs_1405000889

5 SubmittersRCV000939147 RCV000986704 RCV001023729 RCV003478590 RCV005359689

NM_000179.3(MSH6):c.1449G>C (p.Val483=)

SNV
Germline

Chr2:47799432

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA46708107

rs_35590297

6 SubmittersRCV001181718 RCV001472017 RCV004004315 RCV005001125 RCV005427431

NM_000179.3(MSH6):c.1902G>A (p.Leu634=)

SNV
Germline

Chr2:47799885

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121299

rs_1572724876

7 SubmittersRCV001422530 RCV002409244 RCV002265911 RCV003478591 RCV004004320 RCV005427435

NM_000249.4(MLH1):c.513A>G (p.Glu171=)

SNV
Germline

Chr3:37008873

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA72789977

rs_779148982

5 SubmittersRCV001023599 RCV001394957 RCV004003292 RCV005601636

NM_000535.7(PMS2):c.2175-5T>C

SNV
Germline

Chr7:5978701

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA915944858

rs_1583286414

3 SubmittersRCV001463176 RCV002427423 RCV005427471

NM_000251.3(MSH2):c.537T>C (p.Pro179=)

SNV
Germline

Chr2:47410264

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426119554

rs_1573441348

2 SubmittersRCV000985814 RCV005249458

NM_000249.4(MLH1):c.2058C>A (p.Ile686=)

SNV
Germline

Chr3:37048972

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA433086565

rs_1242136178

5 SubmittersRCV000985783 RCV002067570 RCV004004414 RCV005249456 RCV005372503

NM_000251.3(MSH2):c.1662-4G>C

SNV
Germline

Chr2:47470961

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA915943818

rs_1456908037

4 SubmittersRCV000985798 RCV002549654 RCV004944765 RCV005249457

NM_000251.3(MSH2):c.-21A>T

SNV
Germline

Chr2:47403171

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA46666287

rs_776559145

2 SubmittersRCV000986641 RCV002549673

NM_000251.3(MSH2):c.198C>G (p.Tyr66Ter)

SNV
Germline

Chr2:47403389

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346729044

rs_730881784

4 SubmittersRCV000986644 RCV002416267 RCV002550598

NM_000251.3(MSH2):c.212-1G>T

SNV
Germline

Chr2:47408400

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346729448

rs_267607914

3 SubmittersRCV000986646 RCV002416268 RCV005092968

NM_000251.3(MSH2):c.356T>A (p.Leu119Ter)

SNV
Germline

Chr2:47408545

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346730120

rs_1573437173

2 SubmittersRCV000986648 RCV001858650

NM_000251.3(MSH2):c.698C>T (p.Ser233Phe)

SNV
Germline

Chr2:47412466

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346731983

rs_587781724

3 SubmittersRCV000986653 RCV001035463 RCV006387081

NM_000251.3(MSH2):c.2211-1G>C

SNV
Germline

Chr2:47478271

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346729648

rs_267607979

4 SubmittersRCV000986684 RCV001869340 RCV002427439

NM_000179.3(MSH6):c.2082C>A (p.Cys694Ter)

SNV
Unknown

Chr2:47800065

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346750822

rs_1114167791

1 SubmittersRCV000986719

NM_000179.3(MSH6):c.2298T>G (p.His766Gln)

SNV
Germline

Chr2:47800281

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA068773

rs_768535330

3 SubmittersRCV000986721 RCV001351789 RCV006406807

NM_000179.3(MSH6):c.2641G>A (p.Gly881Ser)

SNV
Germline

Chr2:47800624

Conflicting classifications of pathogenicity

Lynch syndrome 5
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA46711385

rs_998186339

3 SubmittersRCV000986725 RCV004004417 RCV005672539

NM_000179.3(MSH6):c.2892T>A (p.Cys964Ter)

SNV
Unknown

Chr2:47800875

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346756072

rs_1482228994

1 SubmittersRCV000986727

NM_000179.3(MSH6):c.3646G>C (p.Gly1216Arg)

SNV
Germline

Chr2:47805707

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA346760636

rs_1114167690

3 SubmittersRCV000986740 RCV002346194 RCV003467542

NM_000535.7(PMS2):c.862C>T (p.Gln288Ter)

SNV
Germline

Chr7:5995575

Pathogenic

Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366743472

rs_1583363851

5 SubmittersRCV000987841 RCV002372709 RCV002549690

NM_000179.3(MSH6):c.130C>T (p.Pro44Ser)

SNV
Germline

Chr2:47783363

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346734892

rs_1558645097

3 SubmittersRCV001349550 RCV004004455 RCV004944768

NM_000179.3(MSH6):c.3586G>T (p.Glu1196Ter)

SNV
Germline

Chr2:47805647

Pathogenic

not specified
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760525

rs_75095286

2 SubmittersRCV001001256 RCV003455040

NM_000251.3(MSH2):c.19G>T (p.Glu7Ter)

SNV
Germline

Chr2:47403210

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346728451

rs_375561490

4 SubmittersRCV001014004 RCV004588466 RCV005093105

NM_000251.3(MSH2):c.79C>T (p.Pro27Ser)

SNV
Germline

Chr2:47403270

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA346728682

rs_878853826

6 SubmittersRCV001027033 RCV001342142 RCV003989625 RCV003479266 RCV004528342

NM_000251.3(MSH2):c.177G>C (p.Lys59Asn)

SNV
Germline

Chr2:47403368

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA346729001

rs_1449905909

4 SubmittersRCV001013128 RCV001312301 RCV005029571

NM_000251.3(MSH2):c.203G>A (p.Gly68Glu)

SNV
Germline

Chr2:47403394

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729055

rs_1064795914

3 SubmittersRCV001014183 RCV001345314 RCV003461338

NM_000251.3(MSH2):c.458C>T (p.Ser153Phe)

SNV
Germline

Chr2:47410185

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730512

rs_766349734

4 SubmittersRCV001022744 RCV001066450 RCV004004631 RCV004570009

NM_000251.3(MSH2):c.461C>T (p.Ala154Val)

SNV
Germline

Chr2:47410188

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730524

rs_1558459194

3 SubmittersRCV001022796 RCV001060535 RCV004004632

NM_000251.3(MSH2):c.517C>G (p.Leu173Val)

SNV
Germline

Chr2:47410244

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA346730741

rs_1176822890

8 SubmittersRCV001023669 RCV001323361 RCV003467676 RCV004004639 RCV004998565 RCV006455338

NM_000251.3(MSH2):c.714T>G (p.Tyr238Ter)

SNV
Germline

Chr2:47412482

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346732082

rs_369670665

4 SubmittersRCV001026090 RCV001862352 RCV003455135

NM_000251.3(MSH2):c.809T>C (p.Leu270Pro)

SNV
Germline

Chr2:47414285

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346732763

rs_1573451078

4 SubmittersRCV001027174 RCV001066735 RCV003455140 RCV005394651

NM_000251.3(MSH2):c.1105G>A (p.Asp369Asn)

SNV
Germline

Chr2:47429770

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346733580

rs_1573484275

4 SubmittersRCV001009904 RCV004004478 RCV004569860 RCV001066046

NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg)

SNV
Germline

Chr2:47429941

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA346734314

rs_879254234

5 SubmittersRCV001010702 RCV003336230 RCV003594068 RCV005367667

NM_000251.3(MSH2):c.1534A>T (p.Lys512Ter)

SNV
Germline

Chr2:47466681

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346727751

rs_1573553178

2 SubmittersRCV001012066 RCV003455073

NM_000251.3(MSH2):c.1583A>G (p.Lys528Arg)

SNV
Germline

Chr2:47466730

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46685049

rs_755799226

3 SubmittersRCV001012282 RCV001220682 RCV004807253

NM_000251.3(MSH2):c.1882G>A (p.Gly628Arg)

SNV
Germline

Chr2:47475147

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA031882

rs_371776176

3 SubmittersRCV001013514 RCV001342329 RCV003467611

NM_000251.3(MSH2):c.2065G>A (p.Ala689Thr)

SNV
Germline

Chr2:47476426

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729172

rs_914610419

5 SubmittersRCV001014220 RCV001061882 RCV002481821 RCV004569928

NM_000251.3(MSH2):c.2080T>A (p.Phe694Ile)

SNV
Germline

Chr2:47476441

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346729198

rs_63751409

3 SubmittersRCV001014362 RCV003455083 RCV005093110

NM_000251.3(MSH2):c.2132G>C (p.Arg711Pro)

SNV
Germline

Chr2:47476493

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346729288

rs_138465383

4 SubmittersRCV001014562 RCV001036842 RCV003455086 RCV006261220

NM_000251.3(MSH2):c.2134G>A (p.Val712Ile)

SNV
Germline

Chr2:47476495

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729290

rs_1573570391

3 SubmittersRCV001014566 RCV001860766 RCV003461341

NM_000251.3(MSH2):c.2245G>T (p.Glu749Ter)

SNV
Germline

Chr2:47478306

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
MSH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA46704848

rs_63751477

4 SubmittersRCV001014912 RCV002550802 RCV003455090 RCV004528338

NM_000251.3(MSH2):c.2320A>T (p.Ile774Phe)

SNV
Germline

Chr2:47478381

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA035391

rs_775464903

3 SubmittersRCV001015182 RCV001860785 RCV003461347

NM_000251.3(MSH2):c.2386A>G (p.Thr796Ala)

SNV
Germline

Chr2:47478447

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346730133

rs_876660738

4 SubmittersRCV001015359 RCV001199895 RCV003467623 RCV006612544

NM_000251.3(MSH2):c.2402A>G (p.His801Arg)

SNV
Germline

Chr2:47478463

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730192

rs_1114167875

4 SubmittersRCV001015422 RCV001062324 RCV003467624

NM_000251.3(MSH2):c.2462T>C (p.Val821Ala)

SNV
Germline

Chr2:47480699

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346730523

rs_1573578373

4 SubmittersRCV001015615 RCV003467625 RCV005093126

NM_000251.3(MSH2):c.2533A>T (p.Lys845Ter)

SNV
Germline

Chr2:47480770

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730798

rs_63750571

2 SubmittersRCV001015793 RCV003455091

NM_000251.3(MSH2):c.2628A>C (p.Glu876Asp)

SNV
Germline

Chr2:47480865

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731169

rs_1271303836

3 SubmittersRCV001016084 RCV001860814 RCV004807260

NM_000251.3(MSH2):c.2746A>C (p.Ile916Leu)

SNV
Germline

Chr2:47482890

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA037420

rs_751216225

4 SubmittersRCV001016472 RCV001860831 RCV004004557

NM_000179.3(MSH6):c.34C>T (p.Pro12Ser)

SNV
Germline

Chr2:47783267

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Condition: not provided
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA071083

rs_587782084

6 SubmittersRCV001020461 RCV001316018 RCV003467658 RCV004998558 RCV005394638

NM_000179.3(MSH6):c.357C>T (p.Phe119=)

SNV
Germline

Chr2:47791023

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA425989387

rs_1298565919

4 SubmittersRCV001020651 RCV002068995 RCV005428043 RCV005394639

NM_000179.3(MSH6):c.541G>A (p.Glu181Lys)

SNV
Germline

Chr2:47795977

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA073121

rs_569728764

4 SubmittersRCV001024076 RCV004004645 RCV005414548 RCV006612566

NM_000179.3(MSH6):c.901A>T (p.Lys301Ter)

SNV
Germline

Chr2:47798884

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346740701

rs_1572720794

5 SubmittersRCV001018658 RCV001039831 RCV001779102 RCV003455101 RCV003461371

NM_000179.3(MSH6):c.1181C>G (p.Ser394Cys)

SNV
Germline

Chr2:47799164

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346742378

rs_1410933611

6 SubmittersRCV001010181 RCV001296294 RCV001819721 RCV004807251 RCV005001127

NM_000179.3(MSH6):c.1362C>A (p.Gly454=)

SNV
Germline

Chr2:47799345

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121092

rs_1572722712

4 SubmittersRCV001011129 RCV001469644 RCV004588456 RCV005428000

NM_000179.3(MSH6):c.1368G>A (p.Trp456Ter)

SNV
Germline

Chr2:47799351

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346744881

rs_1572722737

3 SubmittersRCV001011198 RCV001047126 RCV003455070

NM_000179.3(MSH6):c.1493A>G (p.Lys498Arg)

SNV
Germline

Chr2:47799476

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067760

rs_147136417

6 SubmittersRCV001011856 RCV001215217 RCV001354837 RCV002279707 RCV004004504

NM_000179.3(MSH6):c.2071C>T (p.Leu691Phe)

SNV
Germline

Chr2:47800054

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068445

rs_765224443

6 SubmittersRCV001014292 RCV001061259 RCV001569098 RCV003467616 RCV004004531

NM_000179.3(MSH6):c.2219T>G (p.Leu740Ter)

SNV
Germline

Chr2:47800202

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346752427

rs_745483465

5 SubmittersRCV001014787 RCV001222639 RCV003455088 RCV004004537

NM_000179.3(MSH6):c.2435T>C (p.Leu812Pro)

SNV
Germline

Chr2:47800418

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346754038

rs_1572727192

3 SubmittersRCV001015525 RCV002549421 RCV006455334

NM_000179.3(MSH6):c.2736G>A (p.Trp912Ter)

SNV
Germline

Chr2:47800719

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346755386

rs_1572728472

3 SubmittersRCV001016441 RCV002549439 RCV003455093

NM_000179.3(MSH6):c.2863C>T (p.Leu955=)

SNV
Germline

Chr2:47800846

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121962

rs_1401779172

3 SubmittersRCV001016819 RCV003478626 RCV005428027

NM_000179.3(MSH6):c.3361G>T (p.Glu1121Ter)

SNV
Germline

Chr2:47803608

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346758780

rs_587781609

2 SubmittersRCV001020091 RCV003455109

NM_000179.3(MSH6):c.3554C>G (p.Ser1185Ter)

SNV
Germline

Chr2:47805025

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760277

rs_1572739043

4 SubmittersRCV001020593 RCV001231905 RCV003455112

NM_000179.3(MSH6):c.3818A>G (p.Asn1273Ser)

SNV
Germline

Chr2:47806468

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA072186

rs_201830316

5 SubmittersRCV001021223 RCV001861012 RCV004004611 RCV004569996

NM_000179.3(MSH6):c.3861T>G (p.Tyr1287Ter)

SNV
Germline

Chr2:47806511

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346761332

rs_1060504739

5 SubmittersRCV001021315 RCV001585927 RCV003455119 RCV004004613 RCV003758986

NM_000249.4(MLH1):c.1273A>G (p.Arg425Gly)

SNV
Germline

Chr3:37025871

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA352052987

rs_1575536889

6 SubmittersRCV001010683 RCV001860648 RCV002286799 RCV004004489 RCV004569870

NM_000535.7(PMS2):c.2536G>T (p.Gly846Ter)

SNV
Germline

Chr7:5973452

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366734842

rs_1583269216

4 SubmittersRCV001015801 RCV003758970 RCV004998544 RCV005394630

NM_000535.7(PMS2):c.2365A>T (p.Met789Leu)

SNV
Germline

Chr7:5977668

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
not specified

Criteria Provided
Conflicting Classifications

CA047884

rs_377259633

5 SubmittersRCV001015297 RCV001362342 RCV003461349 RCV003479263

NM_000535.7(PMS2):c.1924G>A (p.Glu642Lys)

SNV
Germline

Chr7:5986841

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA045862

rs_752772040

6 SubmittersRCV001013714 RCV001047146 RCV001539689 RCV004004527

NM_000535.7(PMS2):c.1887A>G (p.Ile629Met)

SNV
Germline

Chr7:5986878

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366739421

rs_1583314135

4 SubmittersRCV001013542 RCV001860742 RCV004807255

NM_000535.7(PMS2):c.1835A>G (p.Asn612Ser)

SNV
Germline

Chr7:5986930

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366739663

rs_1583314932

3 SubmittersRCV001013329 RCV001873243 RCV004569920

NM_000535.7(PMS2):c.1447G>A (p.Asp483Asn)

SNV
Germline

Chr7:5987318

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA366741953

rs_1583319965

4 SubmittersRCV001011631 RCV001210724 RCV003467596 RCV005047204

NM_000535.7(PMS2):c.1397G>T (p.Gly466Val)

SNV
Germline

Chr7:5987368

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366742124

rs_1339878885

3 SubmittersRCV001011357 RCV001348848 RCV004569881

NM_000535.7(PMS2):c.1205A>G (p.Gln402Arg)

SNV
Germline

Chr7:5987560

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366742570

rs_1583323301

3 SubmittersRCV001010298 RCV001232883 RCV004004485

NM_000535.7(PMS2):c.939T>G (p.Tyr313Ter)

SNV
Germline

Chr7:5992022

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743154

rs_1562651617

3 SubmittersRCV001019273 RCV001860942 RCV003455106

NM_000535.7(PMS2):c.65C>A (p.Ser22Ter)

SNV
Germline

Chr7:6005990

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA050809

rs_767028531

5 SubmittersRCV001025441 RCV001383035 RCV003455132 RCV004998572

NM_000535.7(PMS2):c.1A>C (p.Met1Leu)

SNV
Germline

Chr7:6009019

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA366745252

rs_587779333

6 SubmittersRCV001013976 RCV001242115 RCV002259376 RCV003455081 RCV003387954

NM_000251.3(MSH2):c.942+1G>A

SNV
Germline

Chr2:47414419

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA346733027

rs_587779193

4 SubmittersRCV001019333 RCV001210828 RCV003455107 RCV005359774

NM_000179.3(MSH6):c.3172+1G>C

SNV
Germline

Chr2:47801156

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756753

rs_587779255

3 SubmittersRCV001018969 RCV003455104

NM_000179.3(MSH6):c.3802-1G>C

SNV
Germline

Chr2:47806451

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346761210

rs_1572746025

3 SubmittersRCV001021191 RCV002551836 RCV003455116

NM_000535.7(PMS2):c.2276-3T>C

SNV
Germline

Chr7:5977760

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA915944850

rs_1583281760

3 SubmittersRCV001014870 RCV001214259 RCV005428013

NM_000535.7(PMS2):c.1145-2A>G

SNV
Germline

Chr7:5987622

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366742711

rs_1325835006

3 SubmittersRCV001017449 RCV001873297 RCV003455098

NM_000535.7(PMS2):c.705+1G>A

SNV
Germline

Chr7:5999107

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366743806

rs_267608147

5 SubmittersRCV001025972 RCV003455134 RCV003758989 RCV004807268

NM_000251.3(MSH2):c.448G>T (p.Val150Phe)

SNV
Germline

Chr2:47410175

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346730484

rs_1558459157

4 SubmittersRCV001030706 RCV001357699 RCV002249638 RCV002327243

NM_000249.4(MLH1):c.1855G>A (p.Ala619Thr)

SNV
Germline

Chr3:37047642

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA352065160

rs_267607866

4 SubmittersRCV001030631 RCV002409352 RCV004555612 RCV003758991

NM_000251.3(MSH2):c.190A>G (p.Ile64Val)

SNV
Germline

Chr2:47403381

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA346729023

rs_1166747167

7 SubmittersRCV001062343 RCV001806007 RCV002268425 RCV004000125 RCV003467816 RCV005359833

NM_000251.3(MSH2):c.1031A>C (p.Gln344Pro)

SNV
Germline

Chr2:47416384

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346733186

rs_1673078633

2 SubmittersRCV001065068 RCV003455285

NM_000251.3(MSH2):c.1453A>C (p.Met485Leu)

SNV
Germline

Chr2:47463097

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346726962

rs_775377647

3 SubmittersRCV001035390 RCV002391091 RCV003467701

NM_000251.3(MSH2):c.1589A>C (p.Glu530Ala)

SNV
Germline

Chr2:47466736

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346727862

rs_1666901220

5 SubmittersRCV001042504 RCV002400248 RCV003321787 RCV004570138

NM_000251.3(MSH2):c.1688A>G (p.Tyr563Cys)

SNV
Germline

Chr2:47470991

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728089

rs_63751054

6 SubmittersRCV001062181 RCV001183388 RCV002479368 RCV004570256 RCV004000124

NM_000251.3(MSH2):c.2090G>C (p.Cys697Ser)

SNV
Germline

Chr2:47476451

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346729215

rs_63750398

4 SubmittersRCV001061905 RCV004570253 RCV004030441

NM_000251.3(MSH2):c.2525A>G (p.Glu842Gly)

SNV
Germline

Chr2:47480762

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346730767

rs_373393954

7 SubmittersRCV001047234 RCV001183949 RCV003226427 RCV003467748 RCV004004786 RCV005054319

NM_000251.3(MSH2):c.2629A>T (p.Arg877Ter)

SNV
Germline

Chr2:47480866

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346731171

rs_1667504677

3 SubmittersRCV001063932 RCV004570268 RCV004697040

NM_000179.3(MSH6):c.5C>T (p.Ser2Leu)

SNV
Germline

Chr2:47783238

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073146

rs_752887988

4 SubmittersRCV001039473 RCV002354992 RCV004004727

NM_000179.3(MSH6):c.77G>C (p.Arg26Thr)

SNV
Germline

Chr2:47783310

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346734792

rs_1472227590

3 SubmittersRCV001052925 RCV004000056 RCV004944814

NM_000179.3(MSH6):c.1039G>T (p.Glu347Ter)

SNV
Germline

Chr2:47799022

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346741451

rs_1669287624

3 SubmittersRCV001055202 RCV002393274 RCV003455252

NM_000179.3(MSH6):c.1242G>A (p.Trp414Ter)

SNV
Germline

Chr2:47799225

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346743760

rs_1007311950

3 SubmittersRCV001071137 RCV002379631 RCV003455304

NM_000179.3(MSH6):c.1739C>A (p.Ser580Ter)

SNV
Germline

Chr2:47799722

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346748830

rs_41295270

4 SubmittersRCV001043808 RCV001356226 RCV003455178 RCV004807286

NM_000179.3(MSH6):c.2647A>T (p.Lys883Ter)

SNV
Germline

Chr2:47800630

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA346755146

rs_1669491751

3 SubmittersRCV001053044 RCV003455234 RCV004526074

NM_000249.4(MLH1):c.61G>T (p.Ala21Ser)

SNV
Germline

Chr3:36993608

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA352060835

rs_2080897397

4 SubmittersRCV001069082 RCV002355096 RCV004000181 RCV004998634

NM_000249.4(MLH1):c.828A>G (p.Ile276Met)

SNV
Germline

Chr3:37017543

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA72792579

rs_1036438114

5 SubmittersRCV001058898 RCV001181965 RCV004000106 RCV004570234

NM_000535.7(PMS2):c.2489T>C (p.Leu830Pro)

SNV
Germline

Chr7:5973499

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366734948

rs_1781502574

3 SubmittersRCV001047153 RCV002429620 RCV002280584

NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter)

SNV
Germline

Chr7:5986955

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366739743

rs_1064793426

3 SubmittersRCV001064864 RCV003455284

NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)

SNV
Germline

Chr7:5986963

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366739777

rs_63750456

5 SubmittersRCV001061254 RCV002411572 RCV003446602

NM_000535.7(PMS2):c.1774C>G (p.Gln592Glu)

SNV
Germline

Chr7:5986991

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA366739923

rs_63750994

3 SubmittersRCV001037136 RCV004004707 RCV004659299

NM_000535.7(PMS2):c.520C>T (p.Gln174Ter)

SNV
Germline

Chr7:6002470

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366744185

rs_1221485925

4 SubmittersRCV001058031 RCV003455262 RCV004944822

NM_001040108.2(MLH3):c.1940G>A (p.Arg647His)

SNV
Germline

Chr14:75047716

Conflicting classifications of pathogenicity

Colorectal cancer, hereditary nonpolyposis, type 7
not specified
Lynch syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 7
Colorectal cancer
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA7275791

rs_61755653

5 SubmittersRCV001121872 RCV004031840 RCV004576982 RCV005394700

NM_000179.3(MSH6):c.4002-3A>C

SNV
Germline

Chr2:47806776

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA916080295

rs_1435779670

3 SubmittersRCV001055031 RCV005423843 RCV006545838

NM_000535.7(PMS2):c.1144+1G>T

SNV
Germline

Chr7:5989799

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366742715

rs_373885654

3 SubmittersRCV001053111 RCV003455235 RCV004031668

NM_000535.7(PMS2):c.803+1G>A

SNV
Germline

Chr7:5997325

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA366743599

rs_1562669585

5 SubmittersRCV001068955 RCV001800953 RCV003455298 RCV004944847

NM_000535.7(PMS2):c.804-2A>G

SNV
Germline

Chr7:5995635

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA366743591

rs_1307026290

5 SubmittersRCV001054912 RCV002409456 RCV003455250 RCV003994200

NM_000179.3(MSH6):c.3132C>A (p.Tyr1044Ter)

SNV
Germline

Chr2:47801115

Pathogenic

Condition: not provided
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756667

rs_1669552731

2 SubmittersRCV001093450 RCV003455441

NM_000249.4(MLH1):c.2080G>T (p.Glu694Ter)

SNV
Germline

Chr3:37048994

Pathogenic

Lynch syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Gastric cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA032846

rs_147542208

7 SubmittersRCV001093683 RCV001784646 RCV002418578 RCV003160614 RCV003455442 RCV005629588

NM_000249.4(MLH1):c.885-2A>C

SNV
Germline

Chr3:37020308

Likely pathogenic

Lynch syndrome 1

No Assertion Criteria Provided

CA352048322

rs_267607805

1 SubmittersRCV001093689

NM_000251.3(MSH2):c.2635-24A>G

SNV
Germline

Chr2:47482755

Pathogenic/Likely pathogenic

Lynch syndrome
Familial colorectal cancer
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA913189184

rs_1667575488

7 SubmittersRCV001171465 RCV001856289 RCV002256681 RCV002290600 RCV004702637

NM_000249.4(MLH1):c.1732-264A>T

SNV
Germline

Chr3:37047255

Likely pathogenic

Lynch syndrome
Familial colorectal cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1139657982

rs_2085261656

3 SubmittersRCV001171464 RCV001806025

NM_000251.3(MSH2):c.562G>A (p.Glu188Lys)

SNV
Germline

Chr2:47410289

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346730917

rs_1064795622

3 SubmittersRCV001137125 RCV002556914 RCV003353170

NM_000251.3(MSH2):c.*47G>A

SNV
Germline

Chr2:47482996

Conflicting classifications of pathogenicity

Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA532705248

rs_1196239075

2 SubmittersRCV001137349 RCV003320805

NM_000179.3(MSH6):c.2356T>C (p.Tyr786His)

SNV
Germline

Chr2:47800339

Conflicting classifications of pathogenicity

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA068860

rs_773193199

4 SubmittersRCV001140445 RCV001362434 RCV002445397 RCV003462638

NM_000249.4(MLH1):c.91G>T (p.Ala31Ser)

SNV
Germline

Chr3:36993638

Conflicting classifications of pathogenicity

Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039006

rs_749671520

6 SubmittersRCV001149362 RCV001469803 RCV002375041 RCV003117786 RCV004000255

NM_000535.7(PMS2):c.636G>A (p.Gln212=)

SNV
Germline

Chr7:5999177

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA453646931

rs_1784804225

3 SubmittersRCV001164300 RCV002355129

NM_000251.3(MSH2):c.-10A>C

SNV
Germline

Chr2:47403182

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA1139656921

rs_765201464

3 SubmittersRCV001183150 RCV001876088 RCV005601691

NM_000251.3(MSH2):c.19G>A (p.Glu7Lys)

SNV
Germline

Chr2:47403210

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46666445

rs_375561490

4 SubmittersRCV001189020 RCV001321132 RCV004807428

NM_000251.3(MSH2):c.247A>C (p.Met83Leu)

SNV
Germline

Chr2:47408436

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA036212

rs_766196837

4 SubmittersRCV001178226 RCV001303509 RCV003462650

NM_000251.3(MSH2):c.263T>C (p.Phe88Ser)

SNV
Germline

Chr2:47408452

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729557

rs_1672553516

5 SubmittersRCV001303579 RCV001180255 RCV003478710 RCV004807352

NM_000251.3(MSH2):c.338A>G (p.Lys113Arg)

SNV
Germline

Chr2:47408527

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730031

rs_1672561938

4 SubmittersRCV001184619 RCV001876145 RCV005359910

NM_000251.3(MSH2):c.423G>A (p.Met141Ile)

SNV
Germline

Chr2:47410150

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730442

rs_1672660061

4 SubmittersRCV001192280 RCV002560150 RCV004010591

NM_000251.3(MSH2):c.776C>T (p.Pro259Leu)

SNV
Germline

Chr2:47412544

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346732454

rs_866818044

5 SubmittersRCV001177728 RCV001875856 RCV003478706 RCV004006403

NM_000251.3(MSH2):c.1090G>T (p.Glu364Ter)

SNV
Germline

Chr2:47429755

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA346733545

rs_1558478136

5 SubmittersRCV001186447 RCV002559937 RCV003449608 RCV006266610

NM_000251.3(MSH2):c.1321A>T (p.Thr441Ser)

SNV
Germline

Chr2:47445592

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346724617

rs_587779086

5 SubmittersRCV001188997 RCV001859134 RCV003462663 RCV004010323

NM_000251.3(MSH2):c.1444A>G (p.Arg482Gly)

SNV
Germline

Chr2:47463088

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346726909

rs_587779092

3 SubmittersRCV001190620 RCV002560088 RCV004010447

NM_000251.3(MSH2):c.1840G>T (p.Gly614Ter)

SNV
Germline

Chr2:47475105

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728396

rs_1380847972

4 SubmittersRCV001188274 RCV002560014 RCV003449614

NM_000251.3(MSH2):c.2572G>T (p.Gly858Ter)

SNV
Germline

Chr2:47480809

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730958

rs_754533481

2 SubmittersRCV001185403 RCV003449604

NM_000251.3(MSH2):c.2632G>C (p.Glu878Gln)

SNV
Germline

Chr2:47480869

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA036897

rs_749543152

4 SubmittersRCV001181940 RCV001876045 RCV004807364

NM_000251.3(MSH2):c.2794G>A (p.Val932Ile)

SNV
Germline

Chr2:47482938

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346732255

rs_1172428337

4 SubmittersRCV001185463 RCV001862914 RCV004807396

NM_000179.3(MSH6):c.1816A>G (p.Lys606Glu)

SNV
Germline

Chr2:47799799

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346749421

rs_1478102899

5 SubmittersRCV001187057 RCV001223021 RCV003469305 RCV004008659

NM_000179.3(MSH6):c.2254G>A (p.Gly752Ser)

SNV
Germline

Chr2:47800237

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346752701

rs_1296033854

4 SubmittersRCV001185648 RCV003462659 RCV004807400 RCV006616434

NM_000179.3(MSH6):c.3132C>G (p.Tyr1044Ter)

SNV
Germline

Chr2:47801115

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756668

rs_1669552731

5 SubmittersRCV001190006 RCV001859140 RCV003449617

NM_000179.3(MSH6):c.*5A>G

SNV
Germline

Chr2:47806865

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA532354413

rs_1162814122

2 SubmittersRCV001175970 RCV005423857

NM_000249.4(MLH1):c.-15T>C

SNV
Germline

Chr3:36993533

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA029834

rs_764112241

3 SubmittersRCV001176248 RCV004000331

NM_000249.4(MLH1):c.1231A>G (p.Ile411Val)

SNV
Germline

Chr3:37025829

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027821

rs_535470039

4 SubmittersRCV001186635 RCV002559943 RCV004807409

NM_000249.4(MLH1):c.*1A>G

SNV
Germline

Chr3:37050654

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA913188141

rs_2085658957

4 SubmittersRCV001181589 RCV005245744 RCV004006749 RCV004695127

NM_000535.7(PMS2):c.1582G>A (p.Gly528Ser)

SNV
Germline

Chr7:5987183

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366741547

rs_1354150928

4 SubmittersRCV001180908 RCV001876004 RCV004006698

NM_000535.7(PMS2):c.1570C>T (p.Pro524Ser)

SNV
Germline

Chr7:5987195

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA044470

rs_756127972

3 SubmittersRCV001181987 RCV004807366

NM_000535.7(PMS2):c.613C>T (p.Gln205Ter)

SNV
Germline

Chr7:5999200

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA050615

rs_758250810

9 SubmittersRCV001192082 RCV001269755 RCV001859159 RCV003388604 RCV003449623

NM_000251.3(MSH2):c.1662-4G>A

SNV
Germline

Chr2:47470961

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA532342529

rs_1456908037

4 SubmittersRCV001181151 RCV001460189 RCV005245743

NM_000535.7(PMS2):c.24-1G>A

SNV
Germline

Chr7:6006032

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366745208

rs_1785723689

3 SubmittersRCV001186032 RCV003449605

NM_000251.3(MSH2):c.645+6C>T

SNV
Germline

Chr2:47410378

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA532704954

rs_1206136415

3 SubmittersRCV001178007 RCV001238295 RCV005245729

NM_000251.3(MSH2):c.1386+6C>T

SNV
Germline

Chr2:47445663

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA913187907

rs_1675077236

3 SubmittersRCV001179425 RCV003769945 RCV005245736

NM_000179.3(MSH6):c.458-4C>T

SNV
Germline

Chr2:47795890

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA913188005

rs_748645037

3 SubmittersRCV001191406 RCV001469571 RCV005423912

NM_000251.3(MSH2):c.793-3T>C

SNV
Germline

Chr2:47414266

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA913187991

rs_1672942991

4 SubmittersRCV001183089 RCV002559043 RCV005245751

NM_000251.3(MSH2):c.1386+2T>C

SNV
Germline

Chr2:47445659

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346724857

rs_1675076969

4 SubmittersRCV001186193 RCV001284006 RCV003449606

NM_000179.3(MSH6):c.3647-1G>C

SNV
Germline

Chr2:47806203

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760810

rs_587779279

4 SubmittersRCV001190323 RCV001382590 RCV003449622

NM_000179.3(MSH6):c.3646+9T>C

SNV
Germline

Chr2:47805716

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA769464865

rs_1431782575

4 SubmittersRCV001191421 RCV001284018 RCV002560975 RCV005428129

NM_000535.7(PMS2):c.705+2T>C

SNV
Germline

Chr7:5999106

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743803

rs_1784783734

6 SubmittersRCV001179571 RCV001380257 RCV001780095 RCV003449589

NM_000535.7(PMS2):c.538-2A>C

SNV
Germline

Chr7:5999277

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744141

rs_758304323

2 SubmittersRCV001189613 RCV002497660

NM_000251.3(MSH2):c.1609A>T (p.Lys537Ter)

SNV
Germline

Chr2:47466756

Pathogenic

Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346727910

rs_980244810

3 SubmittersRCV001193244 RCV002393445 RCV003449627

NM_000251.3(MSH2):c.2066C>A (p.Ala689Asp)

SNV
Germline

Chr2:47476427

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729174

rs_1060502020

4 SubmittersRCV001193850 RCV001863062 RCV002418650 RCV003449628

NM_000179.3(MSH6):c.1357A>T (p.Lys453Ter)

SNV
Germline

Chr2:47799340

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colon cancer
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346744724

rs_1669323917

2 SubmittersRCV001192422 RCV003449624

NM_000251.3(MSH2):c.1384C>G (p.Gln462Glu)

SNV
Germline

Chr2:47445655

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346724844

rs_876657701

4 SubmittersRCV001219639 RCV001664761 RCV002379829 RCV004010728

NM_000251.3(MSH2):c.1667T>A (p.Leu556Ter)

SNV
Germline

Chr2:47470970

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728043

rs_587779101

3 SubmittersRCV001225114 RCV002402705 RCV003449713

NM_000251.3(MSH2):c.1721A>C (p.Gln574Pro)

SNV
Germline

Chr2:47471024

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728161

rs_1667078647

3 SubmittersRCV001221997 RCV002402680 RCV003449701

NM_000179.3(MSH6):c.1281C>A (p.Tyr427Ter)

SNV
Germline

Chr2:47799264

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346744120

rs_1553412720

5 SubmittersRCV001217699 RCV002379819 RCV004570494 RCV003449686

NM_000179.3(MSH6):c.1559G>A (p.Gly520Asp)

SNV
Germline

Chr2:47799542

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346746712

rs_1669344619

4 SubmittersRCV001223696 RCV002402694 RCV003449707 RCV005394840

NM_000179.3(MSH6):c.3266T>C (p.Leu1089Ser)

SNV
Germline

Chr2:47803513

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346758184

rs_1669748364

3 SubmittersRCV001223215 RCV001253751 RCV002322081

NM_000179.3(MSH6):c.3377A>C (p.Lys1126Thr)

SNV
Germline

Chr2:47803624

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA46716079

rs_766608409

3 SubmittersRCV001217550 RCV004803574 RCV004649502

NM_000535.7(PMS2):c.485T>A (p.Leu162Ter)

SNV
Germline

Chr7:6002505

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744259

rs_1785199575

4 SubmittersRCV001216994 RCV002339568 RCV003449684

NM_000251.3(MSH2):c.2138G>T (p.Gly713Val)

SNV
Germline

Chr2:47476499

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA034338

rs_753555602

3 SubmittersRCV001206853 RCV002429884 RCV004010654

NM_000251.3(MSH2):c.2593A>G (p.Ile865Val)

SNV
Germline

Chr2:47480830

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA46707997

rs_1013401625

4 SubmittersRCV001213246 RCV002258160 RCV003462715

NM_000251.3(MSH2):c.2613G>T (p.Lys871Asn)

SNV
Germline

Chr2:47480850

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346731128

rs_1156823520

3 SubmittersRCV005601704 RCV001204232 RCV003163542

NM_000179.3(MSH6):c.2876G>C (p.Arg959Pro)

SNV
Germline

Chr2:47800859

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346756008

rs_757653982

3 SubmittersRCV001212823 RCV005672610 RCV006252613

NM_000179.3(MSH6):c.2919T>C (p.Gly973=)

SNV
Germline

Chr2:47800902

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426122044

rs_1057522150

5 SubmittersRCV001205054 RCV002436789 RCV002469351 RCV005423924

NM_000179.3(MSH6):c.3555A>C (p.Ser1185=)

SNV
Germline

Chr2:47805026

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA425997252

rs_1669881416

2 SubmittersRCV001203597 RCV004010629

NM_000535.7(PMS2):c.2041C>T (p.Gln681Ter)

SNV
Germline

Chr7:5982957

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
PMS2-related disorder
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366738126

rs_1782465728

4 SubmittersRCV001210495 RCV002418714 RCV003398939 RCV005245790

NM_000535.7(PMS2):c.705G>C (p.Gln235His)

SNV
Germline

Chr7:5999108

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA366743808

rs_876660872

3 SubmittersRCV005428135 RCV001202125 RCV002365906

NM_000251.3(MSH2):c.212-2A>T

SNV
Germline

Chr2:47408399

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729447

rs_267607917

2 SubmittersRCV001209546 RCV003449657

NM_000179.3(MSH6):c.260+4G>A

SNV
Germline

Chr2:47783497

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA1139655634

rs_1389301978

5 SubmittersRCV001202557 RCV003293994 RCV004010621 RCV005423921

NM_000251.3(MSH2):c.792+1G>C

SNV
Germline

Chr2:47412561

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346732537

rs_267607934

6 SubmittersRCV001223371 RCV001357326 RCV003449704 RCV003363185

NM_000251.3(MSH2):c.793-2A>G

SNV
Germline

Chr2:47414267

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346732732

rs_267607933

4 SubmittersRCV001219161 RCV002418752 RCV003449695 RCV004998735

NM_000251.3(MSH2):c.1759+5A>T

SNV
Germline

Chr2:47471067

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA769427992

rs_1396571187

5 SubmittersRCV001223537 RCV001760212 RCV002411827 RCV004807473

NM_000535.7(PMS2):c.538-1G>A

SNV
Germline

Chr7:5999276

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366744139

rs_988423880

6 SubmittersRCV001219564 RCV002290643 RCV002348734 RCV004546618

NM_000251.3(MSH2):c.82G>A (p.Glu28Lys)

SNV
Germline

Chr2:47403273

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA040832

rs_63751246

3 SubmittersRCV002429983 RCV001230131 RCV004807477

NM_000251.3(MSH2):c.332C>T (p.Ala111Val)

SNV
Germline

Chr2:47408521

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346730012

rs_1672561306

5 SubmittersRCV001229939 RCV001355866 RCV001760227 RCV002322108

NM_000251.3(MSH2):c.1135G>T (p.Asp379Tyr)

SNV
Germline

Chr2:47429800

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA027070

rs_764911657

5 SubmittersRCV001237221 RCV002447183 RCV004004870 RCV006274166

NM_000251.3(MSH2):c.2042A>C (p.Gln681Pro)

SNV
Germline

Chr2:47476403

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346729136

rs_1667302018

3 SubmittersRCV002418798 RCV003449727 RCV001232539

NM_000535.7(PMS2):c.1123C>T (p.Gln375Ter)

SNV
Germline

Chr7:5989821

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366742759

rs_956005905

3 SubmittersRCV001227131 RCV002436879 RCV003449715

NM_000535.7(PMS2):c.65C>G (p.Ser22Ter)

SNV
Germline

Chr7:6005990

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366745128

rs_767028531

3 SubmittersRCV001233504 RCV002375243 RCV003449728

NM_000179.3(MSH6):c.3430A>C (p.Met1144Leu)

SNV
Germline

Chr2:47803677

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070809

rs_771925339

4 SubmittersRCV001242725 RCV004034728 RCV004803598

NM_000535.7(PMS2):c.573C>G (p.Tyr191Ter)

SNV
Germline

Chr7:5999240

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744062

rs_761134229

2 SubmittersRCV001240259 RCV002499394

NM_000251.3(MSH2):c.1277-1G>T

SNV
Germline

Chr2:47445547

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346724481

rs_267607948

3 SubmittersRCV003142200 RCV001235341 RCV004639519

NM_000251.3(MSH2):c.1661+1G>C

SNV
Germline

Chr2:47466809

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728021

rs_267607969

3 SubmittersRCV001229406 RCV003294097 RCV003449722

NM_000251.3(MSH2):c.211+1G>C

SNV
Germline

Chr2:47403403

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346729067

rs_1114167883

4 SubmittersRCV001241243 RCV001806078 RCV003449751 RCV005359988

NM_000535.7(PMS2):c.988+1G>T

SNV
Germline

Chr7:5991972

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA052736

rs_757110564

5 SubmittersRCV001243900 RCV001524006 RCV003449767 RCV004004899

NM_000251.3(MSH2):c.337A>T (p.Lys113Ter)

SNV
Germline/somatic

Chr2:47408526

Pathogenic

Lynch-like syndrome
Lynch syndrome 1

Criteria Provided
Single Submitter

CA346730027

rs_1573437064

2 SubmittersRCV001249955 RCV002291503

NM_000251.3(MSH2):c.803C>A (p.Ser268Ter)

SNV
Germline/somatic

Chr2:47414279

Pathogenic

Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346732755

rs_563410947

4 SubmittersRCV001249913 RCV002418857 RCV002570409 RCV003449805

NM_000179.3(MSH6):c.3141G>A (p.Trp1047Ter)

SNV
Germline/somatic

Chr2:47801124

Pathogenic

Lynch-like syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756689

rs_1553414554

4 SubmittersRCV001249959 RCV002322167 RCV003594123 RCV003449807

NM_000251.3(MSH2):c.1303G>T (p.Val435Phe)

SNV
Germline

Chr2:47445574

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346724559

rs_876658240

5 SubmittersRCV001251400 RCV002379955 RCV003770306 RCV003462831

NM_000535.7(PMS2):c.803+9A>G

SNV
Germline

Chr7:5997317

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA1097970350

rs_1784516917

2 SubmittersRCV001251395 RCV005428155

NM_000249.4(MLH1):c.1595G>A (p.Gly532Asp)

SNV
Germline

Chr3:37040222

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Conflicting Classifications

CA352059965

rs_2084640841

5 SubmittersRCV001253794 RCV002402796 RCV002272434 RCV002570543 RCV005646782

NM_000251.3(MSH2):c.1633C>T (p.Gln545Ter)

SNV
Germline

Chr2:47466780

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346727964

rs_1666904987

3 SubmittersRCV001260342 RCV002393670 RCV003449819

NM_000535.7(PMS2):c.2109G>C (p.Thr703=)

SNV
Germline

Chr7:5982889

Conflicting classifications of pathogenicity

Breast neoplasm
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA046622

rs_775355718

6 SubmittersRCV001262424 RCV002418865 RCV002541589 RCV004727058 RCV005428157

NM_000535.7(PMS2):c.1112A>T (p.Asn371Ile)

SNV
Germline

Chr7:5989832

Conflicting classifications of pathogenicity

Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366742780

rs_1783517960

2 SubmittersRCV001262163 RCV004807489

NM_000251.3(MSH2):c.645+9A>G

SNV
Unknown

Chr2:47410381

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA1139656920

rs_1672684698

2 SubmittersRCV001284657 RCV005245809

NM_000251.3(MSH2):c.1557T>C (p.Phe519=)

SNV
Germline

Chr2:47466704

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA425965587

rs_1573553312

4 SubmittersRCV001284008 RCV001525213 RCV002069501 RCV005245807

NM_000251.3(MSH2):c.2377C>T (p.Gln793Ter)

SNV
Germline

Chr2:47478438

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730089

rs_730881769

4 SubmittersRCV001284507 RCV001384160 RCV002451640 RCV003449836

NM_000179.3(MSH6):c.2478T>C (p.His826=)

SNV
Germline

Chr2:47800461

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121489

rs_1572727338

5 SubmittersRCV001284516 RCV001427274 RCV002447253 RCV005428161

NM_000535.7(PMS2):c.903+1G>A

SNV
Germline

Chr7:5995533

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743396

rs_1554300689

7 SubmittersRCV001284681 RCV002375329 RCV002537934 RCV003449837

NM_000251.3(MSH2):c.34G>T (p.Glu12Ter)

SNV
Germline

Chr2:47403225

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728508

rs_917968387

2 SubmittersRCV001295935 RCV003449847

NM_000251.3(MSH2):c.211+3G>A

SNV
Germline

Chr2:47403405

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2495826753

rs_778940305

4 SubmittersRCV001309018 RCV005245817 RCV005443308

NM_000251.3(MSH2):c.1185A>C (p.Gln395His)

SNV
Germline

Chr2:47429850

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346733854

rs_1032873228

3 SubmittersRCV001299434 RCV002341591 RCV004004987

NM_000251.3(MSH2):c.1498G>C (p.Ala500Pro)

SNV
Germline

Chr2:47463142

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346727163

rs_1666733944

3 SubmittersRCV001297771 RCV002393703 RCV005634026

NM_000251.3(MSH2):c.2266A>C (p.Thr756Pro)

SNV
Germline

Chr2:47478327

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729793

rs_750646335

3 SubmittersRCV001305464 RCV003449871

NM_000251.3(MSH2):c.2276G>T (p.Gly759Val)

SNV
Germline

Chr2:47478337

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729812

rs_386833406

3 SubmittersRCV001302008 RCV002447293 RCV003449856

NM_000251.3(MSH2):c.1899A>T (p.Ile633=)

SNV
Germline

Chr2:47475164

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA426119709

rs_1667243318

4 SubmittersRCV001310074 RCV003294253 RCV003759043

NM_000251.3(MSH2):c.25C>G (p.Leu9Val)

SNV
Germline

Chr2:47403216

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346728469

rs_1672231681

3 SubmittersRCV001323925 RCV004570786 RCV004945011

NM_000251.3(MSH2):c.987G>C (p.Leu329Phe)

SNV
Germline

Chr2:47416340

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA46686989

rs_933434691

4 SubmittersRCV001321787 RCV004005110 RCV004035040

NM_000251.3(MSH2):c.1321A>G (p.Thr441Ala)

SNV
Germline

Chr2:47445592

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346724616

rs_587779086

4 SubmittersRCV001327210 RCV001357630 RCV002384440 RCV005601754

NM_000251.3(MSH2):c.1389G>A (p.Val463=)

SNV
Germline

Chr2:47463033

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425963160

rs_1553365702

5 SubmittersRCV001323528 RCV003156338 RCV005245820 RCV004945010

NM_000251.3(MSH2):c.1943T>C (p.Ile648Thr)

SNV
Germline

Chr2:47475208

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA032140

rs_763100088

3 SubmittersRCV001315795 RCV002412012 RCV003462886

NM_000251.3(MSH2):c.2549A>G (p.Glu850Gly)

SNV
Germline

Chr2:47480786

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730867

rs_1667497027

5 SubmittersRCV001327722 RCV001553379 RCV002438757 RCV004808015

NM_000251.3(MSH2):c.2791A>G (p.Lys931Glu)

SNV
Germline

Chr2:47482935

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346732230

rs_1476533863

3 SubmittersRCV001324135 RCV002438742 RCV004808010

NM_000179.3(MSH6):c.1670G>A (p.Gly557Asp)

SNV
Germline

Chr2:47799653

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346747395

rs_1553413050

3 SubmittersRCV001316771 RCV002402882 RCV003449906

NM_000179.3(MSH6):c.3493T>C (p.Cys1165Arg)

SNV
Germline

Chr2:47804964

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346760152

rs_1669872142

3 SubmittersRCV001325048 RCV002456451 RCV003449934

NM_000535.7(PMS2):c.2549T>G (p.Met850Arg)

SNV
Germline

Chr7:5973439

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366734818

rs_1781486223

3 SubmittersRCV001327730 RCV002431938 RCV003449942

NM_000251.3(MSH2):c.-78T>C

SNV
Germline

Chr2:47403114

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA2495826443

rs_876658616

4 SubmittersRCV001339743 RCV001524647 RCV004005161

NM_000251.3(MSH2):c.1502G>A (p.Arg501Lys)

SNV
Germline

Chr2:47463146

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA028941

rs_376677710

4 SubmittersRCV001338269 RCV003169591 RCV004570806

NM_000251.3(MSH2):c.1996A>G (p.Ile666Val)

SNV
Germline

Chr2:47475261

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346728936

rs_1667252115

3 SubmittersRCV001340669 RCV003469568 RCV005369839

NM_000179.3(MSH6):c.3385T>C (p.Cys1129Arg)

SNV
Germline

Chr2:47803632

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Conflicting Classifications

CA346758833

rs_1060502905

4 SubmittersRCV001348022 RCV002456510 RCV006446117

NM_000249.4(MLH1):c.1058C>G (p.Ala353Gly)

SNV
Germline

Chr3:37025656

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA352052059

rs_63751265

3 SubmittersRCV001343361 RCV004005186 RCV004036387

NM_000535.7(PMS2):c.2533C>G (p.His845Asp)

SNV
Germline

Chr7:5973455

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366734851

rs_1781489538

4 SubmittersRCV001339917 RCV005428178 RCV006633983

NM_000251.3(MSH2):c.935T>C (p.Leu312Pro)

SNV
Germline

Chr2:47414411

Conflicting classifications of pathogenicity

Bile duct cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346733010

rs_2104180665

3 SubmittersRCV001358116 RCV002377506 RCV004808025

NM_000251.3(MSH2):c.2005+2T>G

SNV
Germline

Chr2:47475272

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728973

rs_267607987

3 SubmittersRCV001355403 RCV002420773 RCV003449995

NM_000251.3(MSH2):c.2006-12T>G

SNV
Germline

Chr2:47476355

Likely pathogenic

Carcinoma of colon
Lynch syndrome 1

Criteria Provided
Single Submitter

CA2499216060

rs_2104367663

2 SubmittersRCV001356742 RCV006434476

NM_000179.3(MSH6):c.3083C>A (p.Ser1028Ter)

SNV
Germline

Chr2:47801066

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756566

rs_876660853

3 SubmittersRCV001358520 RCV004034503 RCV004789543

NM_000535.7(PMS2):c.2410A>T (p.Lys804Ter)

SNV
Unknown

Chr7:5977623

Likely pathogenic

Malignant tumor of breast
Lynch syndrome 4

Criteria Provided
Single Submitter

CA366735654

rs_2128672286

2 SubmittersRCV001357092 RCV003469593

NM_000251.3(MSH2):c.933C>A (p.Asn311Lys)

SNV
Germline

Chr2:47414409

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA346733005

rs_1060504424

3 SubmittersRCV001369959 RCV001806154 RCV005394993

NM_000179.3(MSH6):c.627+6A>T

SNV
Germline

Chr2:47796069

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499216092

rs_1572716556

3 SubmittersRCV001370551 RCV005428185 RCV006258562

NM_000179.3(MSH6):c.2118T>A (p.Phe706Leu)

SNV
Germline

Chr2:47800101

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346750974

rs_2104389604

3 SubmittersRCV001370981 RCV004037489 RCV004006826

NM_000251.3(MSH2):c.1076G>T (p.Arg359Ile)

SNV
Germline

Chr2:47416429

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA46687382

rs_63751604

3 SubmittersRCV001377641 RCV002420851 RCV003450044

NM_000535.7(PMS2):c.706-1G>A

SNV
Germline

Chr7:5997424

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743801

rs_1202370194

3 SubmittersRCV001378993 RCV002368217 RCV005621095

NM_000251.3(MSH2):c.1511-2A>C

SNV
Germline

Chr2:47466656

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346727699

rs_267607962

3 SubmittersRCV001384780 RCV002395870 RCV003450063

NM_000251.3(MSH2):c.2445T>A (p.Tyr815Ter)

SNV
Germline

Chr2:47478506

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730291

rs_1667403360

4 SubmittersRCV001388596 RCV002456607 RCV003451684

NM_000179.3(MSH6):c.24C>A (p.Tyr8Ter)

SNV
Germline

Chr2:47783257

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346734502

rs_746306598

3 SubmittersRCV001387656 RCV003450077 RCV006406933

NM_000179.3(MSH6):c.333C>G (p.Tyr111Ter)

SNV
Germline

Chr2:47790999

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346736953

rs_786202772

3 SubmittersRCV001390264 RCV002322373 RCV003451690

NM_000179.3(MSH6):c.2974G>T (p.Glu992Ter)

SNV
Germline

Chr2:47800957

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346756337

rs_774755404

3 SubmittersRCV001381422 RCV002438887 RCV004017826

NM_000179.3(MSH6):c.3807C>A (p.Cys1269Ter)

SNV
Germline

Chr2:47806457

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346761221

rs_747924946

2 SubmittersRCV001386762 RCV004803679

NM_000535.7(PMS2):c.2179C>T (p.Gln727Ter)

SNV
Germline

Chr7:5978692

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366736980

rs_786202202

2 SubmittersRCV001380402 RCV003450052

NM_000535.7(PMS2):c.2174+1G>C

SNV
Germline

Chr7:5982823

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA153224679

rs_267608172

2 SubmittersRCV001387075 RCV003450073

NM_000535.7(PMS2):c.1557T>G (p.Tyr519Ter)

SNV
Germline

Chr7:5987208

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366741593

rs_6972869

4 SubmittersRCV001387397 RCV002404903 RCV003450075 RCV004808038

NM_000535.7(PMS2):c.543T>G (p.Tyr181Ter)

SNV
Germline

Chr7:5999270

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366744127

rs_1583387894

2 SubmittersRCV001386402 RCV004017829

NM_000251.3(MSH2):c.2160A>G (p.Lys720=)

SNV
Germline

Chr2:47476521

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA426120380

rs_2104376970

5 SubmittersRCV001410617 RCV002256764 RCV005245893 RCV002511086

NM_000251.3(MSH2):c.2406C>T (p.Val802=)

SNV
Germline

Chr2:47478467

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346730203

rs_2104407996

3 SubmittersRCV001411409 RCV005245897 RCV004945123

NM_000179.3(MSH6):c.261-5A>G

SNV
Germline

Chr2:47790922

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA2499216081

rs_2104097899

4 SubmittersRCV001415751 RCV003584933 RCV005428230

NM_000535.7(PMS2):c.904-7T>C

SNV
Germline

Chr7:5992064

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA2499218970

rs_2128756503

3 SubmittersRCV001396530 RCV002258228 RCV005423994

NM_000535.7(PMS2):c.1146T>G (p.Gly382=)

SNV
Germline

Chr7:5987619

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453643827

rs_1554298091

5 SubmittersRCV001449081 RCV002456759 RCV004699384 RCV005424102

NM_000249.4(MLH1):c.2104-6T>C

SNV
Germline

Chr3:37050480

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA2499216724

rs_2148521621

3 SubmittersRCV001454810 RCV004007053 RCV005246083

NM_000179.3(MSH6):c.2904C>T (p.Val968=)

SNV
Germline

Chr2:47800887

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426122020

rs_150683226

3 SubmittersRCV001500582 RCV004998934 RCV005424202

NM_000179.3(MSH6):c.1198G>T (p.Glu400Ter)

SNV
Germline

Chr2:47799181

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346743399

rs_1396658541

4 SubmittersRCV001525709 RCV001873675 RCV003451795

NM_000179.3(MSH6):c.*6C>T

SNV
Germline

Chr2:47806866

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA073355

rs_758445380

6 SubmittersRCV001525821 RCV001597290 RCV005237876 RCV004008875 RCV005428407

NM_000249.4(MLH1):c.885-15T>G

SNV
Germline

Chr3:37020295

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038734

rs_773112917

4 SubmittersRCV001525126 RCV003594131 RCV004808085

NM_000535.7(PMS2):c.803A>G (p.Tyr268Cys)

SNV
Germline

Chr7:5997326

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366743601

rs_1347758423

3 SubmittersRCV001524761 RCV004808082

NM_000535.7(PMS2):c.706-2A>G

SNV
Germline

Chr7:5997425

Likely pathogenic

Hereditary nonpolyposis colon cancer
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA051177

rs_745487791

5 SubmittersRCV001527064 RCV001780396 RCV002368555 RCV001873720 RCV004789655

NM_000251.3(MSH2):c.1658A>G (p.Asn553Ser)

SNV
Germline

Chr2:47466805

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Conflicting Classifications

CA346728016

rs_2104185998

7 SubmittersRCV001544966 RCV001859363 RCV001806235 RCV004008923 RCV005237887

NM_000251.3(MSH2):c.2767G>A (p.Val923Ile)

SNV
Germline

Chr2:47482911

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346732075

rs_561565629

4 SubmittersRCV001547084 RCV002440785 RCV005094768 RCV004008925

NM_000535.7(PMS2):c.23+1G>A

SNV
Germline

Chr7:6008996

Likely pathogenic

Breast carcinoma
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366745215

rs_587782074

3 SubmittersRCV001559122 RCV002568385 RCV003470864

NM_000251.3(MSH2):c.942+3A>C

SNV
Germline

Chr2:47414421

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA2499216028

rs_193922376

5 SubmittersRCV001565948 RCV001859406 RCV002449370 RCV003451813

NM_000251.3(MSH2):c.1876G>T (p.Glu626Ter)

SNV
Germline

Chr2:47475141

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Multiple Submitters
No Conflicts

CA346728504

rs_1667240403

5 SubmittersRCV001569176 RCV002414271 RCV003451818 RCV003594142 RCV006605345

NM_000179.3(MSH6):c.2938G>T (p.Glu980Ter)

SNV
Germline

Chr2:47800921

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colon cancer
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346756215

rs_2104431856

3 SubmittersRCV001732814 RCV003451869 RCV005094912

NM_000251.3(MSH2):c.2275G>A (p.Gly759Arg)

SNV
Germline

Chr2:47478336

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346729809

rs_63749854

4 SubmittersRCV001763145 RCV004040161 RCV005374786 RCV005094975

NM_000535.7(PMS2):c.1624A>C (p.Thr542Pro)

SNV
Germline

Chr7:5987141

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366741459

rs_1425816147

5 SubmittersRCV001768213 RCV002405310 RCV002540683 RCV003154042 RCV004009037

NM_000179.3(MSH6):c.1453C>T (p.Gln485Ter)

SNV
Germline

Chr2:47799436

Pathogenic/Likely pathogenic

Lynch syndrome
Mismatch repair cancer syndrome 3
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346745726

rs_1114167803

3 SubmittersRCV001775048 RCV005361719 RCV006467924

NM_000179.3(MSH6):c.4001+1G>A

SNV
Germline

Chr2:47806652

Pathogenic/Likely pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346761611

rs_1114167729

4 SubmittersRCV001775212 RCV002370312 RCV003594156

NM_000179.3(MSH6):c.2872C>T (p.Gln958Ter)

SNV
Germline

Chr2:47800855

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346755992

rs_1553414236

5 SubmittersRCV001779491 RCV002034538 RCV003451926 RCV004009051 RCV005638588

NM_000179.3(MSH6):c.3982C>T (p.Gln1328Ter)

SNV
Germline

Chr2:47806632

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346761581

rs_2104567084

4 SubmittersRCV001784680 RCV002359254 RCV003451930

NM_000251.3(MSH2):c.2458+976A>G

SNV
Germline

Chr2:47479495

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2573051964

rs_2104420229

4 SubmittersRCV001789723 RCV002280190

NM_000251.3(MSH2):c.1277-12A>G

SNV
Germline

Chr2:47445536

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA532338029

rs_1181142850

3 SubmittersRCV001801078 RCV002541341 RCV005247288

NM_000251.3(MSH2):c.1371T>G (p.Thr457=)

SNV
Germline

Chr2:47445642

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA425955617

rs_2103758938

3 SubmittersRCV001801086 RCV005247289 RCV006467984

NM_000251.3(MSH2):c.351G>A (p.Trp117Ter)

SNV
Germline

Chr2:47408540

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730094

rs_1558457486

5 SubmittersRCV001801163 RCV002458615 RCV002544386 RCV003451942

NM_000251.3(MSH2):c.-10A>G

SNV
Germline

Chr2:47403182

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA026963

rs_765201464

3 SubmittersRCV001804483 RCV001869513 RCV004009091

NM_000251.3(MSH2):c.1077-13T>C

SNV
Germline

Chr2:47429729

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA2495843564

rs_1673926348

3 SubmittersRCV001804553 RCV005247290 RCV006468005

NM_000535.7(PMS2):c.163+1G>T

SNV
Germline

Chr7:6005891

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366744941

rs_1064795705

5 SubmittersRCV001805683 RCV002541442 RCV003451950 RCV006605350

NM_000179.3(MSH6):c.576A>G (p.Glu192=)

SNV
Germline

Chr2:47796012

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA425993058

rs_2104237282

3 SubmittersRCV001819583 RCV002359272 RCV005421038

NM_000251.3(MSH2):c.149C>T (p.Ala50Val)

SNV
Germline

Chr2:47403340

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346728950

rs_876658582

4 SubmittersRCV001823604 RCV002388685 RCV004009163 RCV001869818

NM_000251.3(MSH2):c.1319T>G (p.Leu440Arg)

SNV
Germline

Chr2:47445590

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346724614

rs_587779084

3 SubmittersRCV002028795 RCV003170566 RCV003453952

NM_000535.7(PMS2):c.904-1G>A

SNV
Germline

Chr7:5992058

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA052371

rs_779064342

2 SubmittersRCV001999638 RCV003453954

NM_000179.3(MSH6):c.1237T>C (p.Trp413Arg)

SNV
Germline

Chr2:47799220

Likely pathogenic

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346743708

rs_2104330278

2 SubmittersRCV003453943 RCV002012824

NM_000179.3(MSH6):c.1574G>A (p.Ser525Asn)

SNV
Germline

Chr2:47799557

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA067856

rs_765387680

4 SubmittersRCV001974052 RCV002258349 RCV005397224

NM_000179.3(MSH6):c.119C>T (p.Ala40Val)

SNV
Germline

Chr2:47783352

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067311

rs_757957751

4 SubmittersRCV001893836 RCV002343987 RCV004010817

NM_000179.3(MSH6):c.3170T>A (p.Leu1057Ter)

SNV
Germline

Chr2:47801153

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346756746

rs_778741297

3 SubmittersRCV001941822 RCV003453860 RCV003471154

NM_000179.3(MSH6):c.2845C>T (p.Gln949Ter)

SNV
Germline

Chr2:47800828

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346755827

rs_878853724

4 SubmittersRCV001938491 RCV002509719 RCV002441040 RCV003452162

NM_000251.3(MSH2):c.2591A>G (p.Asp864Gly)

SNV
Germline

Chr2:47480828

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346731036

rs_863224642

4 SubmittersRCV002018236 RCV004011141 RCV005375023

NM_000251.3(MSH2):c.2383C>A (p.Pro795Thr)

SNV
Germline

Chr2:47478444

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730115

rs_2104406872

3 SubmittersRCV001947842 RCV002458796 RCV004808157

NM_000251.3(MSH2):c.2271C>G (p.Tyr757Ter)

SNV
Germline

Chr2:47478332

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729802

rs_56076152

2 SubmittersRCV001987572 RCV003453822

NM_000535.7(PMS2):c.988+1G>C

SNV
Germline

Chr7:5991972

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743052

rs_757110564

3 SubmittersRCV002013192 RCV002386875 RCV003453948

NM_000535.7(PMS2):c.1358T>G (p.Met453Arg)

SNV
Germline

Chr7:5987407

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366742260

rs_1060503130

3 SubmittersRCV002040229 RCV002386874 RCV005397255

NM_000179.3(MSH6):c.3266T>G (p.Leu1089Ter)

SNV
Germline

Chr2:47803513

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346758187

rs_1669748364

2 SubmittersRCV001967444 RCV003452188

NM_000251.3(MSH2):c.182A>T (p.Gln61Leu)

SNV
Germline

Chr2:47403373

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729011

rs_587779113

5 SubmittersRCV002258326 RCV001951926 RCV004808160

NM_000251.3(MSH2):c.114C>A (p.Asp38Glu)

SNV
Germline

Chr2:47403305

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346728812

rs_587779074

3 SubmittersRCV003316859 RCV002022770 RCV005445558

NM_000535.7(PMS2):c.2007-2A>G

SNV
Germline

Chr7:5982993

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366738205

rs_587782336

7 SubmittersRCV001958970 RCV002467458 RCV002423147 RCV006258723

NM_000251.3(MSH2):c.2527T>G (p.Cys843Gly)

SNV
Germline

Chr2:47480764

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730778

rs_1667495338

3 SubmittersRCV001971429 RCV003493902 RCV004556846

NM_000179.3(MSH6):c.3375C>T (p.Gly1125=)

SNV
Germline

Chr2:47803622

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426122030

rs_765577023

4 SubmittersRCV001919953 RCV002458749 RCV005421054

NM_000535.7(PMS2):c.1456G>C (p.Asp486His)

SNV
Germline

Chr7:5987309

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA366741923

rs_2128730228

4 SubmittersRCV001893643 RCV003167041 RCV004808152

NM_000535.7(PMS2):c.1972C>T (p.Gln658Ter)

SNV
Germline

Chr7:5986793

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366739008

rs_1172837844

2 SubmittersRCV002035249 RCV003453843

NM_000179.3(MSH6):c.3646+1G>A

SNV
Germline

Chr2:47805708

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA346760638

rs_1553332772

5 SubmittersRCV001974193 RCV002243498 RCV004945854 RCV005361889

NM_000179.3(MSH6):c.3878C>G (p.Ala1293Gly)

SNV
Germline

Chr2:47806528

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA072242

rs_764835191

5 SubmittersRCV001924322 RCV002361252 RCV003464246 RCV004010906

NM_000251.3(MSH2):c.2356G>T (p.Glu786Ter)

SNV
Germline

Chr2:47478417

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729980

rs_2104405386

3 SubmittersRCV002000129 RCV002442943 RCV003453852

NM_000251.3(MSH2):c.1061A>G (p.Asn354Ser)

SNV
Germline

Chr2:47416414

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346733251

rs_2104252754

3 SubmittersRCV001946483 RCV002290807 RCV002397967

NM_000251.3(MSH2):c.943-3T>C

SNV
Germline

Chr2:47416293

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA2573134983

rs_2104241966

2 SubmittersRCV001990089 RCV005247309

NM_000179.3(MSH6):c.2337T>A (p.Cys779Ter)

SNV
Germline

Chr2:47800320

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346753406

rs_1553413707

3 SubmittersRCV001941846 RCV003453861 RCV003365601

NM_000179.3(MSH6):c.37A>T (p.Lys13Ter)

SNV
Germline

Chr2:47783270

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346734527

rs_942019524

2 SubmittersRCV002002526 RCV003453856

NM_000179.3(MSH6):c.1095G>A (p.Trp365Ter)

SNV
Germline

Chr2:47799078

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346741875

rs_1272484865

3 SubmittersRCV001941526 RCV003170170 RCV003453857

NM_000179.3(MSH6):c.3801+2T>G

SNV
Germline

Chr2:47806360

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346761205

rs_1558392617

2 SubmittersRCV002032981 RCV002284495

NM_000179.3(MSH6):c.260+2T>C

SNV
Germline

Chr2:47783495

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346735209

rs_1553408469

3 SubmittersRCV001991495 RCV003453944 RCV006558255

NM_000179.3(MSH6):c.962C>G (p.Ser321Ter)

SNV
Germline

Chr2:47798945

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346740911

rs_1472853525

3 SubmittersRCV001970084 RCV002370609 RCV003453868

NM_000251.3(MSH2):c.1618A>G (p.Ser540Gly)

SNV
Germline

Chr2:47466765

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346727931

rs_1268933712

3 SubmittersRCV001911997 RCV002397820 RCV003464197

NM_000179.3(MSH6):c.3247G>T (p.Glu1083Ter)

SNV
Germline

Chr2:47803494

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346758113

rs_763844573

3 SubmittersRCV001949390 RCV002324407 RCV003453879

NM_000179.3(MSH6):c.2758A>T (p.Lys920Ter)

SNV
Germline

Chr2:47800741

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346755434

rs_2104422674

3 SubmittersRCV001972767 RCV003453880 RCV005370078

NM_000535.7(PMS2):c.325G>T (p.Glu109Ter)

SNV
Germline

Chr7:6003718

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744579

rs_63749862

3 SubmittersRCV002039555 RCV002324232 RCV003451982

NM_000251.3(MSH2):c.199A>C (p.Met67Leu)

SNV
Germline

Chr2:47403390

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346729045

rs_768824654

3 SubmittersRCV001925187 RCV004010822 RCV004042547

NM_000535.7(PMS2):c.3G>T (p.Met1Ile)

SNV
Germline

Chr7:6009017

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366745249

rs_1554309086

3 SubmittersRCV001950104 RCV003452184 RCV006407027

NM_000535.7(PMS2):c.2341C>T (p.Gln781Ter)

SNV
Germline

Chr7:5977692

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366735922

rs_587780054

4 SubmittersRCV001950116 RCV002442892 RCV003452185

NM_000251.3(MSH2):c.1981A>T (p.Lys661Ter)

SNV
Germline

Chr2:47475246

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728871

rs_1553368707

3 SubmittersRCV002047131 RCV002422898 RCV003451983

NM_000535.7(PMS2):c.4G>T (p.Glu2Ter)

SNV
Germline

Chr7:6009016

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366745246

rs_1554309080

3 SubmittersRCV001958693 RCV002334976 RCV003453883

NM_000535.7(PMS2):c.1239A>G (p.Lys413=)

SNV
Germline

Chr7:5987526

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453748343

rs_1244752544

5 SubmittersRCV001906739 RCV002370498 RCV004010840 RCV004598160 RCV005421056

NM_000251.3(MSH2):c.646-2A>C

SNV
Germline

Chr2:47412412

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346731597

rs_587779169

3 SubmittersRCV002001414 RCV002361357 RCV003453930

NM_000179.3(MSH6):c.2111C>G (p.Ala704Gly)

SNV
Germline

Chr2:47800094

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068474

rs_370237509

4 SubmittersRCV001892435 RCV002422964 RCV004808143

NM_000179.3(MSH6):c.824G>C (p.Ser275Thr)

SNV
Germline

Chr2:47798807

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073476

rs_774586054

3 SubmittersRCV002027023 RCV002425429 RCV004011154

NM_000251.3(MSH2):c.2054T>G (p.Ile685Arg)

SNV
Germline

Chr2:47476415

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729151

rs_1667303602

3 SubmittersRCV001983983 RCV002423208 RCV003453939

NM_000249.4(MLH1):c.2128A>G (p.Asn710Asp)

SNV
Germline

Chr3:37050510

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352068955

rs_1559595840

3 SubmittersRCV002168468 RCV003464405 RCV004005416

NM_000251.3(MSH2):c.2460T>G (p.Gly820=)

SNV
Germline

Chr2:47480697

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA425968686

rs_2104434538

4 SubmittersRCV002164787 RCV003303703 RCV005247362 RCV006269561

NM_000251.3(MSH2):c.192C>A (p.Ile64=)

SNV
Germline

Chr2:47403383

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426119503

rs_1395172053

5 SubmittersRCV002083858 RCV002307837 RCV002256912 RCV005247450

NM_000251.3(MSH2):c.1511-1G>T

SNV
Germline

Chr2:47466657

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA46684847

rs_267607964

2 SubmittersRCV002250121 RCV002391376

NM_000251.3(MSH2):c.2287G>C (p.Ala763Pro)

SNV
Germline

Chr2:47478348

Pathogenic/Likely pathogenic

Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729832

rs_1318630651

2 SubmittersRCV002250122

NM_000535.7(PMS2):c.2444C>A (p.Ser815Ter)

SNV
Germline

Chr7:5977589

Pathogenic/Likely pathogenic

Condition: not provided
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366735532

rs_587779338

3 SubmittersRCV002254083 RCV003454051 RCV003759086

NM_000251.3(MSH2):c.564G>C (p.Glu188Asp)

SNV
Germline

Chr2:47410291

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730927

rs_1553350883

4 SubmittersRCV002257137 RCV004005557

NM_000051.4(ATM):c.201T>G (p.Tyr67Ter)

SNV
Germline

Chr11:108229193

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA382521248

rs_1555055083

1 SubmittersRCV002267183

NM_000179.3(MSH6):c.1813A>G (p.Thr605Ala)

SNV
Germline

Chr2:47799796

Conflicting classifications of pathogenicity

not specified
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA068168

rs_780167298

4 SubmittersRCV002269192 RCV004808241 RCV003759091 RCV005684942

NM_000179.3(MSH6):c.2909G>A (p.Trp970Ter)

SNV
Germline

Chr2:47800892

Pathogenic/Likely pathogenic

Colorectal cancer
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346756148

rs_2104430094

4 SubmittersRCV002290230 RCV003454080 RCV006558769

NM_000251.3(MSH2):c.1636A>G (p.Lys546Glu)

SNV
Germline

Chr2:47466783

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346727971

rs_2528756764

2 SubmittersRCV002303610 RCV003454094

NM_000251.3(MSH2):c.309T>A (p.Tyr103Ter)

SNV
Germline

Chr2:47408498

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729643

rs_1237013776

2 SubmittersRCV002325929 RCV003454099

NM_000179.3(MSH6):c.1129A>T (p.Lys377Ter)

SNV
Germline

Chr2:47799112

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346742078

rs_786202609

3 SubmittersRCV002325978 RCV003316863 RCV005096149

NM_000179.3(MSH6):c.3556+2T>G

SNV
Germline

Chr2:47805029

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346760284

rs_1669882321

4 SubmittersRCV002339752 RCV003454120 RCV004017924 RCV004697213

NM_000179.3(MSH6):c.3557-1G>A

SNV
Germline

Chr2:47805617

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346760396

rs_1114167723

3 SubmittersRCV002454896 RCV003454121 RCV003594198

NM_000535.7(PMS2):c.1151T>A (p.Leu384Ter)

SNV
Germline

Chr7:5987614

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366742694

rs_1554298087

2 SubmittersRCV002349017 RCV003464455

NM_000179.3(MSH6):c.3198T>G (p.Tyr1066Ter)

SNV
Germline

Chr2:47803445

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346757862

rs_199643502

3 SubmittersRCV002443338 RCV003454102 RCV003759103

NM_000179.3(MSH6):c.3173-1G>T

SNV
Germline

Chr2:47803419

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346757810

rs_397515875

2 SubmittersRCV002322663 RCV005601891

NM_000179.3(MSH6):c.3294C>A (p.Cys1098Ter)

SNV
Germline

Chr2:47803541

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346758458

rs_766341781

3 SubmittersRCV002454637 RCV003454110 RCV003759104

NM_000251.3(MSH2):c.363T>A (p.Tyr121Ter)

SNV
Germline

Chr2:47408552

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730150

rs_63750458

2 SubmittersRCV002346604 RCV003454128

NM_000179.3(MSH6):c.3640G>T (p.Glu1214Ter)

SNV
Germline

Chr2:47805701

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346760623

rs_1114167744

6 SubmittersRCV002452437 RCV003234799 RCV004572257 RCV005397386 RCV006470586

NM_000179.3(MSH6):c.3646+2T>G

SNV
Germline

Chr2:47805709

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760642

rs_1553332776

3 SubmittersRCV002346632 RCV003454129

NM_000251.3(MSH2):c.379A>G (p.Asn127Asp)

SNV
Germline

Chr2:47410106

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730350

rs_2104017602

2 SubmittersRCV002363940 RCV005601896

NM_000179.3(MSH6):c.3801+1G>A

SNV
Germline

Chr2:47806359

Likely pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346761201

rs_876660943

2 SubmittersRCV003454137 RCV002363966

NM_000179.3(MSH6):c.433A>T (p.Lys145Ter)

SNV
Germline

Chr2:47791099

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346737160

rs_2530439801

2 SubmittersRCV002332176 RCV003454151

NM_000535.7(PMS2):c.433C>T (p.Gln145Ter)

SNV
Germline

Chr7:6002557

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366744358

rs_786204133

2 SubmittersRCV002332183 RCV004005657

NM_000179.3(MSH6):c.3281C>A (p.Ser1094Ter)

SNV
Germline

Chr2:47803528

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346758342

rs_774147100

2 SubmittersRCV002325070 RCV006634002

NM_000179.3(MSH6):c.3581T>A (p.Leu1194Ter)

SNV
Germline

Chr2:47805642

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760513

rs_2530822515

2 SubmittersRCV002460281 RCV003454122

NM_000179.3(MSH6):c.3592G>C (p.Ala1198Pro)

SNV
Germline

Chr2:47805653

Likely pathogenic

Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346760537

rs_1669962346

2 SubmittersRCV002339837 RCV005025796

NM_000251.3(MSH2):c.1012G>T (p.Gly338Ter)

SNV
Germline

Chr2:47416365

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733146

rs_63751004

2 SubmittersRCV002351051 RCV003454134

NM_000179.3(MSH6):c.3931G>T (p.Glu1311Ter)

SNV
Germline

Chr2:47806581

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346761481

rs_749522534

3 SubmittersRCV002373227 RCV003454145

NM_000179.3(MSH6):c.630A>G (p.Val210=)

SNV
Germline

Chr2:47798613

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA425995746

rs_1553412038

2 SubmittersRCV002368824 RCV004005722

NM_000179.3(MSH6):c.461C>A (p.Ser154Ter)

SNV
Germline

Chr2:47795897

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346738561

rs_1553411391

2 SubmittersRCV002330372 RCV003454155

NM_000535.7(PMS2):c.537+2T>C

SNV
Germline

Chr7:6002451

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366744143

rs_2128815420

3 SubmittersRCV002347064 RCV003594220 RCV005424866

NM_000535.7(PMS2):c.538G>T (p.Glu180Ter)

SNV
Germline

Chr7:5999275

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366744137

rs_876660198

3 SubmittersRCV002347185 RCV003464469 RCV006470830

NM_000179.3(MSH6):c.1191T>A (p.Tyr397Ter)

SNV
Germline

Chr2:47799174

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346743354

rs_786201269

2 SubmittersRCV002335808 RCV003454161

NM_000535.7(PMS2):c.556C>T (p.Gln186Ter)

SNV
Germline

Chr7:5999257

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366744097

rs_1233470165

3 SubmittersRCV002352042 RCV004591917 RCV005096812

NM_000535.7(PMS2):c.1204C>T (p.Gln402Ter)

SNV
Germline

Chr7:5987561

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366742571

rs_587782789

4 SubmittersRCV002344708 RCV003454169 RCV004017926 RCV005096813

NM_000535.7(PMS2):c.585A>G (p.Ser195=)

SNV
Germline

Chr7:5999228

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA453647225

rs_2536321183

3 SubmittersRCV002353375 RCV005421273 RCV006258804

NM_000179.3(MSH6):c.585T>G (p.Val195=)

SNV
Germline

Chr2:47796021

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA425993102

rs_2104238150

2 SubmittersRCV004005707 RCV002353406

NM_000249.4(MLH1):c.589-3C>T

SNV
Germline

Chr3:37012008

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA2580069381

rs_748145045

2 SubmittersRCV002353594 RCV004808282

NM_000251.3(MSH2):c.495T>A (p.Tyr165Ter)

SNV
Germline

Chr2:47410222

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730651

rs_63749949

3 SubmittersRCV002342793 RCV003102664 RCV005601898

NM_000179.3(MSH6):c.1234A>T (p.Lys412Ter)

SNV
Germline

Chr2:47799217

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346743682

rs_1669310607

2 SubmittersRCV002378173 RCV003454186

NM_000251.3(MSH2):c.793-1G>C

SNV
Germline

Chr2:47414268

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346732734

rs_863225397

3 SubmittersRCV002416795 RCV003099794 RCV003454202

NM_000251.3(MSH2):c.793-1G>T

SNV
Germline

Chr2:47414268

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346732735

rs_863225397

4 SubmittersRCV002416796 RCV003103457 RCV003454203 RCV006605379

NM_000251.3(MSH2):c.793-2A>T

SNV
Germline

Chr2:47414267

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA346732733

rs_267607933

3 SubmittersRCV002416800 RCV003454204 RCV005356110

NM_000535.7(PMS2):c.1231G>T (p.Glu411Ter)

SNV
Germline

Chr7:5987534

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366742517

rs_1159969834

2 SubmittersRCV002362089 RCV004017927

NM_000179.3(MSH6):c.1239G>A (p.Trp413Ter)

SNV
Germline

Chr2:47799222

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346743726

rs_1114167736

2 SubmittersRCV002370890 RCV003454191

NM_000535.7(PMS2):c.821C>G (p.Ser274Ter)

SNV
Germline

Chr7:5995616

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743548

rs_2536155330

2 SubmittersRCV002412509 RCV003454212

NM_000179.3(MSH6):c.829G>T (p.Glu277Ter)

SNV
Germline

Chr2:47798812

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346740460

rs_2104300003

2 SubmittersRCV002430318 RCV003454214

NM_000251.3(MSH2):c.95C>T (p.Thr32Ile)

SNV
Germline

Chr2:47403286

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728743

rs_552361923

3 SubmittersRCV002385287 RCV003094840 RCV003464502

NM_000535.7(PMS2):c.706-1G>C

SNV
Germline

Chr7:5997424

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743800

rs_1202370194

2 SubmittersRCV002365050 RCV004793795

NM_000535.7(PMS2):c.706-1G>T

SNV
Germline

Chr7:5997424

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743799

rs_1202370194

5 SubmittersRCV002365051 RCV003491098 RCV003594236 RCV004017928 RCV004785625

NM_000251.3(MSH2):c.1279A>T (p.Lys427Ter)

SNV
Germline

Chr2:47445550

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346724487

rs_2103752001

3 SubmittersRCV002374237 RCV003454228 RCV003594249

NM_000251.3(MSH2):c.952G>T (p.Glu318Ter)

SNV
Germline

Chr2:47416305

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733048

rs_2104242839

2 SubmittersRCV002374249 RCV002467459

NM_000251.3(MSH2):c.731T>A (p.Leu244Ter)

SNV
Germline

Chr2:47412499

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346732197

rs_1553351657

2 SubmittersRCV002380104 RCV003316866

NM_000535.7(PMS2):c.765C>G (p.Tyr255Ter)

SNV
Germline

Chr7:5997364

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743679

rs_573125799

2 SubmittersRCV002396422 RCV003454198

NM_000535.7(PMS2):c.803+2T>G

SNV
Germline

Chr7:5997324

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743594

rs_2128786265

2 SubmittersRCV002419292 RCV003454209

NM_000535.7(PMS2):c.804-1G>C

SNV
Germline

Chr7:5995634

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743588

rs_1562664845

2 SubmittersRCV002419304 RCV003464490

NM_000535.7(PMS2):c.804-1G>T

SNV
Germline

Chr7:5995634

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366743587

rs_1562664845

3 SubmittersRCV002412438 RCV003454210 RCV003594241

NM_000251.3(MSH2):c.1276G>T (p.Gly426Ter)

SNV
Germline

Chr2:47429941

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346734316

rs_879254234

3 SubmittersRCV002371717 RCV003454226 RCV003100152

NM_000251.3(MSH2):c.1277-5T>C

SNV
Germline

Chr2:47445543

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA2580066626

rs_2528396616

2 SubmittersRCV002373865 RCV005248679

NM_000251.3(MSH2):c.942+1G>C

SNV
Germline

Chr2:47414419

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733026

rs_587779193

2 SubmittersRCV002373986 RCV003454227

NM_000251.3(MSH2):c.974C>T (p.Ser325Phe)

SNV
Germline

Chr2:47416327

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA041916

rs_765886157

2 SubmittersRCV002387094 RCV004007293

NM_000251.3(MSH2):c.1357A>G (p.Met453Val)

SNV
Germline

Chr2:47445628

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346724744

rs_1558493602

3 SubmittersRCV002383379 RCV004572408 RCV003759669

NM_000251.3(MSH2):c.1433T>G (p.Leu478Arg)

SNV
Germline

Chr2:47463077

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA346726867

rs_2104087118

3 SubmittersRCV002392126 RCV003454250 RCV004700748

NM_000251.3(MSH2):c.1510+1G>T

SNV
Germline

Chr2:47463155

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346727219

rs_1114167852

4 SubmittersRCV002392192 RCV003454253 RCV003759680 RCV006258831

NM_000251.3(MSH2):c.1510+2T>A

SNV
Germline

Chr2:47463156

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346727221

rs_1060502023

2 SubmittersRCV002392193 RCV003454254

NM_000179.3(MSH6):c.1582G>T (p.Glu528Ter)

SNV
Germline

Chr2:47799565

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346746858

rs_2530617697

3 SubmittersRCV002398266 RCV005621193 RCV006470930

NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)

SNV
Germline

Chr7:5987177

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA044524

rs_751261543

3 SubmittersRCV002398363 RCV003454257

NM_000535.7(PMS2):c.1673C>G (p.Thr558Ser)

SNV
Germline

Chr7:5987092

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA366741259

rs_114037612

5 SubmittersRCV002405905 RCV003493947 RCV004007348 RCV006258834

NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)

SNV
Germline

Chr7:5987090

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366741253

rs_751153838

6 SubmittersRCV002414507 RCV003454270 RCV005097672 RCV004808315

NM_000535.7(PMS2):c.988+2T>C

SNV
Germline

Chr7:5991971

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366743050

rs_2128754913

3 SubmittersRCV002387394 RCV004007294

NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)

SNV
Germline

Chr7:5989951

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366743034

rs_186577215

4 SubmittersRCV002382880 RCV003454235 RCV005042820

NM_000251.3(MSH2):c.1029C>G (p.Asn343Lys)

SNV
Germline

Chr2:47416382

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346733184

rs_1060501995

5 SubmittersRCV002387717 RCV003095000 RCV004779324 RCV004572406

NM_000251.3(MSH2):c.155T>C (p.Leu52Pro)

SNV
Germline

Chr2:47403346

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA029520

rs_780840040

3 SubmittersRCV002405387 RCV004007332 RCV003759682

NM_000179.3(MSH6):c.1564C>T (p.Gln522Ter)

SNV
Germline

Chr2:47799547

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346746744

rs_878853708

2 SubmittersRCV002405490 RCV003454255

NM_000251.3(MSH2):c.1807G>T (p.Asp603Tyr)

SNV
Germline

Chr2:47475072

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA46700132

rs_63750657

2 SubmittersRCV002410096 RCV003316870

NM_000179.3(MSH6):c.1810G>T (p.Glu604Ter)

SNV
Germline

Chr2:47799793

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA346749382

rs_1669375976

4 SubmittersRCV002410175 RCV003454289 RCV003759698 RCV005356121

NM_000251.3(MSH2):c.1386+2T>G

SNV
Germline

Chr2:47445659

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346724858

rs_1675076969

2 SubmittersRCV002396521 RCV003454247

NM_000179.3(MSH6):c.1468G>T (p.Glu490Ter)

SNV
Germline

Chr2:47799451

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346745872

rs_1558661782

2 SubmittersRCV002396876 RCV003336703

NM_000249.4(MLH1):c.1039-1G>T

SNV
Germline

Chr3:37025636

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352052021

rs_267607819

4 SubmittersRCV002396935 RCV002467460 RCV004017932

NM_000179.3(MSH6):c.1472T>C (p.Met491Thr)

SNV
Germline

Chr2:47799455

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA067724

rs_759643679

3 SubmittersRCV002396961 RCV004007323 RCV005097538

NM_000535.7(PMS2):c.1552G>T (p.Glu518Ter)

SNV
Germline

Chr7:5987213

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366741604

rs_376142390

3 SubmittersRCV002403400 RCV003464523

NM_000251.3(MSH2):c.1555T>C (p.Phe519Leu)

SNV
Germline

Chr2:47466702

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA346727792

rs_1371291280

5 SubmittersRCV002403450 RCV003096927 RCV004808310 RCV006274356

NM_000251.3(MSH2):c.1796T>G (p.Leu599Ter)

SNV
Germline

Chr2:47475061

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728317

rs_747504492

2 SubmittersRCV002407804 RCV003454286

NM_000179.3(MSH6):c.1294T>C (p.Phe432Leu)

SNV
Germline

Chr2:47799277

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346744219

rs_2104334088

2 SubmittersRCV002380619 RCV005424894

NM_000251.3(MSH2):c.1363G>T (p.Glu455Ter)

SNV
Germline

Chr2:47445634

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346724766

rs_1675074360

3 SubmittersRCV002383551 RCV003095036 RCV003454242

NM_000251.3(MSH2):c.1369A>C (p.Thr457Pro)

SNV
Germline

Chr2:47445640

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346724785

rs_1445965781

4 SubmittersRCV002383643 RCV003095042 RCV003454245

NM_000179.3(MSH6):c.1605C>G (p.Tyr535Ter)

SNV
Germline

Chr2:47799588

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346746982

rs_2104354873

2 SubmittersRCV002398771 RCV003454260

NM_000535.7(PMS2):c.167T>C (p.Leu56Pro)

SNV
Germline

Chr7:6004055

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366744929

rs_2128830784

2 SubmittersRCV002406016 RCV005424920

NM_000179.3(MSH6):c.1777C>T (p.Gln593Ter)

SNV
Germline

Chr2:47799760

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346749210

rs_751179784

4 SubmittersRCV002404010 RCV003454284 RCV005097750 RCV005055459

NM_000179.3(MSH6):c.1852C>T (p.Gln618Ter)

SNV
Germline

Chr2:47799835

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346749739

rs_1411268654

3 SubmittersRCV002413042 RCV003454291 RCV004572444

NM_000179.3(MSH6):c.1865T>C (p.Ile622Thr)

SNV
Germline

Chr2:47799848

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346749851

rs_2104372440

4 SubmittersRCV002414994 RCV003759702 RCV005397415

NM_000251.3(MSH2):c.1829A>C (p.His610Pro)

SNV
Germline

Chr2:47475094

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346728368

rs_1667236175

3 SubmittersRCV002410486 RCV003482411 RCV004596549

NM_000251.3(MSH2):c.1972G>T (p.Glu658Ter)

SNV
Germline

Chr2:47475237

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728836

rs_1558518517

2 SubmittersRCV002423522 RCV003454311

NM_000251.3(MSH2):c.2060T>G (p.Leu687Arg)

SNV
Germline

Chr2:47476421

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729164

rs_587779133

3 SubmittersRCV002421975 RCV003121024 RCV003454321

NM_000251.3(MSH2):c.2068C>A (p.Gln690Lys)

SNV
Germline

Chr2:47476429

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346729177

rs_587779134

3 SubmittersRCV002422071 RCV003454322 RCV005097919

NM_000251.3(MSH2):c.2162G>A (p.Gly721Glu)

SNV
Germline

Chr2:47476523

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346729348

rs_2104377051

4 SubmittersRCV002417908 RCV003121033 RCV004007401 RCV004999752

NM_000535.7(PMS2):c.2174+1G>T

SNV
Germline

Chr7:5982823

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA046863

rs_267608172

4 SubmittersRCV002481086 RCV002432777 RCV003454329 RCV003759713

NM_000535.7(PMS2):c.2175-1G>A

SNV
Germline

Chr7:5978697

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366736997

rs_1562605623

2 SubmittersRCV002432799 RCV003454330

NM_000535.7(PMS2):c.2175-2A>G

SNV
Germline

Chr7:5978698

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366737003

rs_2128684295

3 SubmittersRCV002432800 RCV003327568 RCV003454331

NM_000251.3(MSH2):c.2285T>A (p.Leu762Ter)

SNV
Germline

Chr2:47478346

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729827

rs_1558521698

2 SubmittersRCV002446153 RCV003455460

NM_000251.3(MSH2):c.2285T>G (p.Leu762Ter)

SNV
Germline

Chr2:47478346

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729826

rs_1558521698

2 SubmittersRCV002446154 RCV005869832

NM_000535.7(PMS2):c.237C>T (p.Asn79=)

SNV
Germline

Chr7:6003985

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366744773

rs_2536512447

4 SubmittersRCV002457868 RCV003775215 RCV004999754 RCV005424940

NM_000179.3(MSH6):c.2393T>C (p.Leu798Pro)

SNV
Germline

Chr2:47800376

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346753867

rs_2104404366

3 SubmittersRCV002459593 RCV003759731 RCV005356128

NM_000251.3(MSH2):c.2399T>C (p.Leu800Pro)

SNV
Germline

Chr2:47478460

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346730184

rs_2104407685

4 SubmittersRCV002450225 RCV003101788 RCV003455467 RCV004007426

NM_000251.3(MSH2):c.239T>C (p.Leu80Pro)

SNV
Germline

Chr2:47408428

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729504

rs_2103976941

2 SubmittersRCV002459642 RCV003455468

NM_000535.7(PMS2):c.251-1G>A

SNV
Germline

Chr7:6003793

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366744735

rs_764171734

3 SubmittersRCV002434936 RCV005421377 RCV006258853

NM_000179.3(MSH6):c.2626G>T (p.Glu876Ter)

SNV
Germline

Chr2:47800609

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346755051

rs_2104415820

4 SubmittersRCV002437249 RCV003102044 RCV003465762 RCV005248792

NM_000535.7(PMS2):c.1895T>G (p.Leu632Ter)

SNV
Germline

Chr7:5986870

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366739379

rs_2128721689

2 SubmittersRCV002408099 RCV003454299

NM_000251.3(MSH2):c.1939G>A (p.Glu647Lys)

SNV
Germline

Chr2:47475204

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728725

rs_63750078

2 SubmittersRCV002413143 RCV004572452

NM_000251.3(MSH2):c.193A>T (p.Lys65Ter)

SNV
Germline

Chr2:47403384

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
MSH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA346729031

rs_1465016316

5 SubmittersRCV002413152 RCV003454305 RCV004545838

NM_000251.3(MSH2):c.1948T>C (p.Phe650Leu)

SNV
Germline

Chr2:47475213

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46700548

rs_868745991

4 SubmittersRCV002413291 RCV003320891 RCV003774574 RCV004007380

NM_000179.3(MSH6):c.194C>A (p.Ser65Ter)

SNV
Germline

Chr2:47783427

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346735030

rs_41294984

3 SubmittersRCV002421497 RCV003097376 RCV003454307

NM_000535.7(PMS2):c.2247T>G (p.Asn749Lys)

SNV
Germline

Chr7:5978624

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366736579

rs_200824831

2 SubmittersRCV002428420 RCV003454336

NM_002354.3(EPCAM):c.224G>A (p.Gly75Asp)

SNV
Germline

Chr2:47373847

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Congenital diarrhea 5 with tufting enteropathy
Lynch syndrome 8
Lynch syndrome 8

Criteria Provided
Conflicting Classifications

CA1648929

rs_749805135

3 SubmittersRCV002428449 RCV004796732 RCV005601910

NM_000179.3(MSH6):c.260+2T>G

SNV
Germline

Chr2:47783495

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346735207

rs_1553408469

3 SubmittersRCV002426247 RCV003455484 RCV004017936

NM_000251.3(MSH2):c.2006-1G>A

SNV
Germline

Chr2:47476366

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729075

rs_267607988

2 SubmittersRCV002417256 RCV003454314

NM_000535.7(PMS2):c.2007-1G>C

SNV
Germline

Chr7:5982992

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366738203

rs_267608170

2 SubmittersRCV002417268 RCV003454315

NM_000251.3(MSH2):c.2023A>T (p.Lys675Ter)

SNV
Germline

Chr2:47476384

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729102

rs_1060501990

2 SubmittersRCV002419632 RCV003454317

NM_000251.3(MSH2):c.1075A>G (p.Arg359Gly)

SNV
Germline

Chr2:47416428

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733279

rs_587779070

2 SubmittersRCV002419669 RCV003454318

NM_000251.3(MSH2):c.2027C>A (p.Ser676Ter)

SNV
Germline

Chr2:47476388

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729110

rs_1057520735

3 SubmittersRCV002419695 RCV003454319

NM_000535.7(PMS2):c.2029G>T (p.Glu677Ter)

SNV
Germline

Chr7:5982969

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366738147

rs_2128704530

3 SubmittersRCV002419744 RCV002469477 RCV004017934

NM_000251.3(MSH2):c.202G>T (p.Gly68Trp)

SNV
Germline

Chr2:47403393

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729053

rs_2103882055

2 SubmittersRCV002419772 RCV004808330

NM_000251.3(MSH2):c.211+1G>A

SNV
Germline

Chr2:47403403

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729069

rs_1114167883

3 SubmittersRCV002417472 RCV003454326

NM_000251.3(MSH2):c.211+2T>G

SNV
Germline

Chr2:47403404

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346729071

rs_1060501993

3 SubmittersRCV002417473 RCV003454327 RCV006471140

NM_000535.7(PMS2):c.232G>T (p.Glu78Ter)

SNV
Germline

Chr7:6003990

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744787

rs_1785414812

2 SubmittersRCV002457623 RCV003455463

NM_000251.3(MSH2):c.2458+1G>C

SNV
Germline

Chr2:47478520

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730323

rs_267608010

3 SubmittersRCV002430714 RCV003493955 RCV003455472

NM_000251.3(MSH2):c.2459-2A>C

SNV
Germline

Chr2:47480694

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA46707548

rs_267608011

2 SubmittersRCV002430718 RCV003455473

NM_000251.3(MSH2):c.1072G>T (p.Glu358Ter)

SNV
Germline

Chr2:47416425

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Muir-Torré syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA346733274

rs_1208014123

3 SubmittersRCV002423831 RCV003320892 RCV005032266

NM_000249.4(MLH1):c.2103+2T>C

SNV
Germline

Chr3:37049019

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352068501

rs_2148512428

3 SubmittersRCV002424260 RCV004007397

NM_000251.3(MSH2):c.2307C>A (p.Tyr769Ter)

SNV
Germline

Chr2:47478368

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729870

rs_1573574086

2 SubmittersRCV002446388 RCV003455461

NM_000251.3(MSH2):c.230G>T (p.Ser77Ile)

SNV
Germline

Chr2:47408419

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729485

rs_1203185481

2 SubmittersRCV002446428 RCV004007417

NM_000535.7(PMS2):c.2535T>G (p.His845Gln)

SNV
Germline

Chr7:5973453

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366734845

rs_876660464

2 SubmittersRCV002455749 RCV003455480

NM_000179.3(MSH6):c.1102G>T (p.Glu368Ter)

SNV
Germline

Chr2:47799085

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346741919

rs_1572721686

2 SubmittersRCV002455805 RCV003455481

NM_000251.3(MSH2):c.2548G>T (p.Glu850Ter)

SNV
Germline

Chr2:47480785

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730861

rs_1171704794

2 SubmittersRCV002455815 RCV003455482

NM_000251.3(MSH2):c.2554G>T (p.Glu852Ter)

SNV
Germline

Chr2:47480791

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730890

rs_587779966

2 SubmittersRCV002455832 RCV003455483

NM_000179.3(MSH6):c.2757A>G (p.Glu919=)

SNV
Germline

Chr2:47800740

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA426121637

rs_866493167

3 SubmittersRCV002439427 RCV004999763 RCV005421391

NM_000251.3(MSH2):c.294T>G (p.Tyr98Ter)

SNV
Germline

Chr2:47408483

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729614

rs_763872353

3 SubmittersRCV002441865 RCV003455505

NM_000179.3(MSH6):c.290G>A (p.Trp97Ter)

SNV
Germline

Chr2:47790956

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346736638

rs_752680756

3 SubmittersRCV002439818 RCV003455501 RCV005098335

NM_000179.3(MSH6):c.3040A>T (p.Lys1014Ter)

SNV
Germline

Chr2:47801023

Pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346756482

rs_2104437393

2 SubmittersRCV003455514 RCV002444006

NM_000535.7(PMS2):c.304G>T (p.Glu102Ter)

SNV
Germline

Chr7:6003739

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366744619

rs_2128826930

2 SubmittersRCV002444102 RCV004017937

NM_000251.3(MSH2):c.1127T>A (p.Leu376Ter)

SNV
Germline

Chr2:47429792

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733620

rs_762385137

2 SubmittersRCV002444294 RCV005621211

NM_000179.3(MSH6):c.2977G>T (p.Glu993Ter)

SNV
Germline

Chr2:47800960

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346756350

rs_1558667523

2 SubmittersRCV002442154 RCV004763419

NM_000249.4(MLH1):c.879C>G (p.Tyr293Ter)

SNV
Germline

Chr3:37017594

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal carcinoma

Criteria Provided
Single Submitter

CA352046579

rs_1209098685

1 SubmittersRCV002463850 RCV002508981

NM_000179.3(MSH6):c.3801+4T>G

SNV
Germline

Chr2:47806362

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA2580067355

rs_758830540

2 SubmittersRCV003090652 RCV004009372

NM_000251.3(MSH2):c.126C>A (p.Phe42Leu)

SNV
Germline

Chr2:47403317

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA027356

rs_730881766

3 SubmittersRCV003083929 RCV004942967 RCV004790356

NM_000251.3(MSH2):c.1757C>A (p.Ser586Ter)

SNV
Germline

Chr2:47471060

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Muir-Torré syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728235

rs_1114167854

3 SubmittersRCV003112120 RCV003330111 RCV003455763

NM_000251.3(MSH2):c.1661+2T>G

SNV
Germline

Chr2:47466810

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728024

rs_1553366680

3 SubmittersRCV002618628 RCV005375119 RCV003455554

NM_000251.3(MSH2):c.2599G>T (p.Glu867Ter)

SNV
Germline

Chr2:47480836

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA346731076

rs_2104440647

3 SubmittersRCV002635267 RCV003455555 RCV005370257

NM_000251.3(MSH2):c.514A>T (p.Lys172Ter)

SNV
Germline

Chr2:47410241

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346730730

rs_2465708237

2 SubmittersRCV002796574 RCV003455577

NM_000179.3(MSH6):c.628-2A>C

SNV
Germline

Chr2:47798609

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346739194

rs_1114167725

2 SubmittersRCV002815831 RCV003455585

NM_000179.3(MSH6):c.1784T>G (p.Leu595Ter)

SNV
Germline

Chr2:47799767

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346749254

rs_1553413170

3 SubmittersRCV002815913 RCV003465840 RCV003455586

NM_000251.3(MSH2):c.1553A>T (p.Gln518Leu)

SNV
Germline

Chr2:47466700

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA029503

rs_763323368

3 SubmittersRCV002872239 RCV003465856 RCV005445710

NM_000251.3(MSH2):c.2635-6T>C

SNV
Germline

Chr2:47482773

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA2580067351

rs_2104458978

2 SubmittersRCV002858457 RCV005421440

NM_000179.3(MSH6):c.457+6A>T

SNV
Germline

Chr2:47791129

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA2580066912

rs_2104113258

2 SubmittersRCV002890012 RCV005425003

NM_000179.3(MSH6):c.3752C>A (p.Ser1251Ter)

SNV
Germline

Chr2:47806309

Pathogenic

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346761080

rs_1558392317

2 SubmittersRCV003455614 RCV002952788

NM_000535.7(PMS2):c.2446-16T>C

SNV
Germline

Chr7:5973558

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA2578823598

rs_2535207021

2 SubmittersRCV002985376 RCV005425016

NM_000179.3(MSH6):c.3802-2A>G

SNV
Germline

Chr2:47806450

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346761207

rs_2104550873

4 SubmittersRCV003006245 RCV003455659 RCV003585329 RCV006274385

NM_000535.7(PMS2):c.164-10A>G

SNV
Germline

Chr7:6004068

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2580077197

rs_2128830974

3 SubmittersRCV003055217 RCV005045173 RCV004661545

NM_000535.7(PMS2):c.27A>G (p.Thr9=)

SNV
Germline

Chr7:6006028

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA453650382

rs_1060504842

2 SubmittersRCV003043350 RCV004808403

NM_000535.7(PMS2):c.903+5T>G

SNV
Germline

Chr7:5995529

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA840185026

rs_1419635604

3 SubmittersRCV003035350 RCV003294394 RCV005425036

NM_000179.3(MSH6):c.3861T>A (p.Tyr1287Ter)

SNV
Unknown

Chr2:47806511

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346761331

rs_1060504739

1 SubmittersRCV003140368

NM_000535.7(PMS2):c.214G>T (p.Gly72Ter)

SNV
Germline

Chr7:6004008

Pathogenic/Likely pathogenic

Condition: not provided
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744833

rs_2128829880

2 SubmittersRCV003131239 RCV003455765

NM_000534.5(PMS1):c.1427A>G (p.Asp476Gly)

SNV
Germline

Chr2:189854699

Conflicting classifications of pathogenicity

Ovarian cancer
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA2026662

rs_571235425

2 SubmittersRCV003154670 RCV004577035

NM_000179.3(MSH6):c.3747C>G (p.Tyr1249Ter)

SNV
Germline

Chr2:47806304

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346761069

rs_1057520326

2 SubmittersRCV003176367 RCV006634020

NM_000249.4(MLH1):c.2104-4C>G

SNV
Germline

Chr3:37050482

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA2580069520

rs_2148521639

4 SubmittersRCV003172124 RCV003779549 RCV004009642

NM_000251.3(MSH2):c.2091T>G (p.Cys697Trp)

SNV
Germline

Chr2:47476452

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346729216

rs_63750872

2 SubmittersRCV003182930 RCV003455778

NM_000251.3(MSH2):c.1208A>G (p.Asp403Gly)

SNV
Germline

Chr2:47429873

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346733996

rs_1344783415

4 SubmittersRCV003182953 RCV003459800 RCV003759798

NM_000179.3(MSH6):c.3277G>T (p.Gly1093Ter)

SNV
Germline

Chr2:47803524

Pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346758294

rs_876659302

3 SubmittersRCV003455776 RCV003182626 RCV005399278

NM_000179.3(MSH6):c.2308G>T (p.Gly770Cys)

SNV
Germline

Chr2:47800291

Likely pathogenic

Lynch syndrome 1

No Assertion Criteria Provided

CA346753105

rs_1669447063

1 SubmittersRCV003229514

NM_000179.3(MSH6):c.236C>A (p.Ser79Ter)

SNV
Germline

Chr2:47783469

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346735108

rs_1428717797

2 SubmittersRCV003278512 RCV003455790

NM_000535.7(PMS2):c.538-2A>T

SNV
Unknown

Chr7:5999277

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366744140

rs_758304323

1 SubmittersRCV003316952

NM_000179.3(MSH6):c.457+1G>A

SNV
Germline

Chr2:47791124

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346737214

rs_2104112957

2 SubmittersRCV003455799

NM_000179.3(MSH6):c.2982C>A (p.Tyr994Ter)

SNV
Germline

Chr2:47800965

Pathogenic/Likely pathogenic

Lynch syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346756361

rs_367758473

2 SubmittersRCV005055464 RCV003320950

NM_000251.3(MSH2):c.2101G>T (p.Glu701Ter)

SNV
Germline

Chr2:47476462

Pathogenic

Lynch syndrome

Criteria Provided
Single Submitter

CA346729235

rs_776820509

1 SubmittersRCV003322653

NM_000251.3(MSH2):c.93C>T (p.Thr31=)

SNV
Germline

Chr2:47403284

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA426119392

rs_941967928

4 SubmittersRCV003325653 RCV004009739 RCV004943016 RCV005249498

NM_000179.3(MSH6):c.2788A>T (p.Lys930Ter)

SNV
Unknown

Chr2:47800771

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346755521

rs_878853719

1 SubmittersRCV003337110

NM_000535.7(PMS2):c.989-1G>C

SNV
Germline

Chr7:5989956

Likely pathogenic

Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366743045

rs_587780064

2 SubmittersRCV003335669 RCV005705139

NM_000535.7(PMS2):c.1144+2T>G

SNV
Germline

Chr7:5989798

Pathogenic/Likely pathogenic

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366742713

rs_267608158

3 SubmittersRCV003335738 RCV003594652 RCV004654200

NM_000179.3(MSH6):c.3438+1G>T

SNV
Unknown

Chr2:47803686

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346758975

rs_267608096

1 SubmittersRCV003335752

NM_000179.3(MSH6):c.1407T>G (p.Tyr469Ter)

SNV
Unknown

Chr2:47799390

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346745240

rs_587781408

1 SubmittersRCV003335762

NM_000179.3(MSH6):c.3446T>A (p.Leu1149Ter)

SNV
Germline

Chr2:47804917

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA070960

rs_768792513

2 SubmittersRCV003360822 RCV003455807

NM_000251.3(MSH2):c.496G>C (p.Val166Leu)

SNV
Germline

Chr2:47410223

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346730655

rs_1672668358

2 SubmittersRCV003350722 RCV003459848

NM_000251.3(MSH2):c.897T>A (p.Tyr299Ter)

SNV
Germline

Chr2:47414373

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346732935

rs_879254104

3 SubmittersRCV003350730 RCV003455811 RCV003594656

NM_000251.3(MSH2):c.272A>C (p.Asp91Ala)

SNV
Germline

Chr2:47408461

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729575

rs_876660914

4 SubmittersRCV003350732 RCV005104041 RCV003459849

NM_000179.3(MSH6):c.3173-6T>C

SNV
Germline

Chr2:47803414

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA2496051764

rs_1669729119

3 SubmittersRCV003443758 RCV003778468 RCV005422318

NM_000179.3(MSH6):c.3577G>T (p.Glu1193Ter)

SNV
Germline

Chr2:47805638

Pathogenic/Likely pathogenic

Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346760505

rs_63751328

4 SubmittersRCV005399406 RCV003450237 RCV004364745 RCV003459867

NM_000535.7(PMS2):c.841G>T (p.Gly281Ter)

SNV
Germline

Chr7:5995596

Pathogenic/Likely pathogenic

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366743510

rs_1784309424

3 SubmittersRCV003471707 RCV003594695

NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)

SNV
Unknown

Chr7:5999240

Pathogenic/Likely pathogenic

Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744063

rs_761134229

2 SubmittersRCV003452423

NM_000179.3(MSH6):c.3826G>T (p.Glu1276Ter)

SNV
Germline

Chr2:47806476

Pathogenic/Likely pathogenic

Lynch syndrome 5
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346761263

rs_2104552999

4 SubmittersRCV003450284 RCV003466082 RCV003759854 RCV005861342

NM_000179.3(MSH6):c.1627A>T (p.Lys543Ter)

SNV
Germline

Chr2:47799610

Pathogenic/Likely pathogenic

Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346747112

rs_1572723712

3 SubmittersRCV003459872 RCV004654224 RCV003450428

NM_000251.3(MSH2):c.1510+1G>C

SNV
Germline

Chr2:47463155

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346727217

rs_1114167852

2 SubmittersRCV003455914 RCV005100120

NM_000251.3(MSH2):c.2210+2T>A

SNV
Germline

Chr2:47476573

Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346729442

rs_2104379659

2 SubmittersRCV003455918 RCV004364737

NM_000251.3(MSH2):c.2459-1G>T

SNV
Unknown

Chr2:47480695

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346730511

rs_1060501991

1 SubmittersRCV003455919

NM_000251.3(MSH2):c.366+1G>C

SNV
Unknown

Chr2:47408556

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346730170

rs_267607924

1 SubmittersRCV003455921

NM_000251.3(MSH2):c.1811C>A (p.Ala604Asp)

SNV
Germline

Chr2:47475076

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346728341

rs_2104338716

2 SubmittersRCV003455922 RCV005675196

NM_000251.3(MSH2):c.1714G>T (p.Glu572Ter)

SNV
Unknown

Chr2:47471017

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346728149

rs_2104277427

1 SubmittersRCV003455926

NM_000251.3(MSH2):c.2254A>T (p.Arg752Ter)

SNV
Unknown

Chr2:47478315

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729771

rs_2528979840

1 SubmittersRCV003455935

NM_000251.3(MSH2):c.778G>T (p.Glu260Ter)

SNV
Unknown

Chr2:47412546

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346732461

rs_1672830765

1 SubmittersRCV003455942

NM_000251.3(MSH2):c.679A>T (p.Arg227Ter)

SNV
Unknown

Chr2:47412447

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346731838

rs_756809051

1 SubmittersRCV003455947

NM_000251.3(MSH2):c.2096C>A (p.Ser699Ter)

SNV
Germline

Chr2:47476457

Pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346729228

rs_587779136

2 SubmittersRCV003455950 RCV003594671

NM_000251.3(MSH2):c.607G>T (p.Gly203Ter)

SNV
Germline

Chr2:47410334

Pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346731084

rs_587779973

2 SubmittersRCV003455958 RCV003594673

NM_000251.3(MSH2):c.1076+2T>A

SNV
Unknown

Chr2:47416431

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346733281

rs_2104254486

1 SubmittersRCV003455961

NM_000251.3(MSH2):c.1076+2T>G

SNV
Unknown

Chr2:47416431

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346733283

rs_2104254486

1 SubmittersRCV003455973

NM_000251.3(MSH2):c.2047G>C (p.Gly683Arg)

SNV
Unknown

Chr2:47476408

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729142

rs_267607995

1 SubmittersRCV003455975

NM_000251.3(MSH2):c.803C>G (p.Ser268Ter)

SNV
Germline

Chr2:47414279

Pathogenic

Lynch syndrome 1
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Multiple Submitters
No Conflicts

CA346732756

rs_563410947

2 SubmittersRCV003455981 RCV006437212

NM_000251.3(MSH2):c.1115T>A (p.Leu372Ter)

SNV
Unknown

Chr2:47429780

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346733597

rs_1573484336

1 SubmittersRCV003450102

NM_000251.3(MSH2):c.32T>A (p.Leu11Ter)

SNV
Unknown

Chr2:47403223

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346728494

rs_2103868483

1 SubmittersRCV003450107

NM_000251.3(MSH2):c.295A>T (p.Arg99Ter)

SNV
Unknown

Chr2:47408484

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729616

rs_63750230

1 SubmittersRCV003450137

NM_000251.3(MSH2):c.792+1G>T

SNV
Unknown

Chr2:47412561

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346732539

rs_267607934

1 SubmittersRCV003450149

NM_000251.3(MSH2):c.2257G>T (p.Gly753Ter)

SNV
Unknown

Chr2:47478318

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729778

rs_2104400787

1 SubmittersRCV003450153

NM_000251.3(MSH2):c.2271C>A (p.Tyr757Ter)

SNV
Unknown

Chr2:47478332

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729801

rs_56076152

1 SubmittersRCV003450156

NM_000251.3(MSH2):c.773T>A (p.Leu258Ter)

SNV
Unknown

Chr2:47412541

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346732434

rs_2104110271

1 SubmittersRCV003450166

NM_000251.3(MSH2):c.1676T>G (p.Leu559Ter)

SNV
Unknown

Chr2:47470979

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346728060

rs_1667073440

1 SubmittersRCV003450175

NM_000251.3(MSH2):c.1127T>G (p.Leu376Ter)

SNV
Germline

Chr2:47429792

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346733619

rs_762385137

2 SubmittersRCV004364739 RCV003450180

NM_000251.3(MSH2):c.839T>G (p.Leu280Ter)

SNV
Unknown

Chr2:47414315

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346732818

rs_1573451339

1 SubmittersRCV003450185

NM_000251.3(MSH2):c.1018A>T (p.Arg340Ter)

SNV
Unknown

Chr2:47416371

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346733156

rs_1553353205

1 SubmittersRCV003450191

NM_000179.3(MSH6):c.3438+1G>C

SNV
Unknown

Chr2:47803686

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346758974

rs_267608096

1 SubmittersRCV003450214

NM_000179.3(MSH6):c.261-2A>T

SNV
Unknown

Chr2:47790925

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346736411

rs_2104098003

1 SubmittersRCV003450217

NM_000179.3(MSH6):c.3408T>G (p.Asn1136Lys)

SNV
Unknown

Chr2:47803655

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346758895

rs_2104485089

1 SubmittersRCV003450218

NM_000179.3(MSH6):c.458-2A>C

SNV
Unknown

Chr2:47795892

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346738550

rs_2104227716

1 SubmittersRCV003450220

NM_000179.3(MSH6):c.457+2T>G

SNV
Unknown

Chr2:47791125

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346737225

rs_267608036

1 SubmittersRCV003450226

NM_000179.3(MSH6):c.2773G>T (p.Gly925Ter)

SNV
Germline

Chr2:47800756

Pathogenic

Lynch syndrome 5
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346755465

rs_2104423405

3 SubmittersRCV003450231 RCV004999938 RCV004943035

NM_000179.3(MSH6):c.472G>T (p.Glu158Ter)

SNV
Unknown

Chr2:47795908

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346738584

rs_2104228754

1 SubmittersRCV003450239

NM_000179.3(MSH6):c.2326C>T (p.Gln776Ter)

SNV
Unknown

Chr2:47800309

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346753294

rs_2104400928

1 SubmittersRCV003450252

NM_000179.3(MSH6):c.3894T>A (p.Tyr1298Ter)

SNV
Unknown

Chr2:47806544

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346761405

rs_1348836250

1 SubmittersRCV003450254

NM_000179.3(MSH6):c.3760G>T (p.Glu1254Ter)

SNV
Germline

Chr2:47806317

Pathogenic

Lynch syndrome 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346761101

rs_1558392392

2 SubmittersRCV003450261 RCV004697297

NM_000179.3(MSH6):c.2811T>A (p.Tyr937Ter)

SNV
Unknown

Chr2:47800794

Pathogenic/Likely pathogenic

Lynch syndrome 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346755626

rs_1572728785

2 SubmittersRCV003450271 RCV004999939

NM_000179.3(MSH6):c.194C>G (p.Ser65Ter)

SNV
Unknown

Chr2:47783427

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346735031

rs_41294984

1 SubmittersRCV003450274

NM_000179.3(MSH6):c.3433A>T (p.Arg1145Ter)

SNV
Germline

Chr2:47803680

Pathogenic

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346758962

rs_2104486660

2 SubmittersRCV003450276 RCV006473201

NM_000179.3(MSH6):c.841G>T (p.Gly281Ter)

SNV
Unknown

Chr2:47798824

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346740513

rs_1229666565

1 SubmittersRCV003450286

NM_000179.3(MSH6):c.443T>G (p.Leu148Ter)

SNV
Germline

Chr2:47791109

Pathogenic

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346737184

rs_2530440256

2 SubmittersRCV003450287 RCV006616922

NM_000179.3(MSH6):c.2440A>T (p.Lys814Ter)

SNV
Unknown

Chr2:47800423

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346754049

rs_1064793190

1 SubmittersRCV003450297

NM_000179.3(MSH6):c.1677C>A (p.Cys559Ter)

SNV
Unknown

Chr2:47799660

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346747449

rs_63749893

1 SubmittersRCV003450298

NM_000179.3(MSH6):c.676G>T (p.Glu226Ter)

SNV
Unknown

Chr2:47798659

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346739866

rs_2104290522

1 SubmittersRCV003450301

NM_000179.3(MSH6):c.373A>T (p.Lys125Ter)

SNV
Germline

Chr2:47791039

Pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Pancreatic adenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346737032

rs_372352774

3 SubmittersRCV003450304 RCV005439129 RCV005927705

NM_000179.3(MSH6):c.1609A>T (p.Lys537Ter)

SNV
Germline

Chr2:47799592

Pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346747008

rs_753276270

2 SubmittersRCV003450308 RCV005439130

NM_000179.3(MSH6):c.2767A>T (p.Lys923Ter)

SNV
Germline

Chr2:47800750

Pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346755452

rs_1558666660

4 SubmittersRCV003450324 RCV004364748 RCV006561669

NM_000179.3(MSH6):c.1510A>T (p.Lys504Ter)

SNV
Germline

Chr2:47799493

Pathogenic

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346746286

rs_1553412902

2 SubmittersRCV003450341 RCV005251363

NM_000179.3(MSH6):c.3731T>A (p.Leu1244Ter)

SNV
Unknown

Chr2:47806288

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346761035

rs_1558392241

1 SubmittersRCV003450344

NM_000179.3(MSH6):c.685G>T (p.Glu229Ter)

SNV
Unknown

Chr2:47798668

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346739903

rs_876660694

1 SubmittersRCV003450362

NM_000179.3(MSH6):c.2608A>T (p.Lys870Ter)

SNV
Unknown

Chr2:47800591

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346754967

rs_1310418564

1 SubmittersRCV003450388

NM_000179.3(MSH6):c.1597G>T (p.Glu533Ter)

SNV
Unknown

Chr2:47799580

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346746936

rs_1553412979

1 SubmittersRCV003450425

NM_000179.3(MSH6):c.2036T>A (p.Leu679Ter)

SNV
Unknown

Chr2:47800019

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346750733

rs_781668793

1 SubmittersRCV003450427

NM_000179.3(MSH6):c.2074A>T (p.Lys692Ter)

SNV
Unknown

Chr2:47800057

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346750804

rs_752532578

1 SubmittersRCV003450432

NM_000179.3(MSH6):c.3554C>A (p.Ser1185Ter)

SNV
Unknown

Chr2:47805025

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346760276

rs_1572739043

1 SubmittersRCV003450433

NM_000535.7(PMS2):c.1694T>A (p.Leu565Ter)

SNV
Unknown

Chr7:5987071

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366741168

rs_1783008091

1 SubmittersRCV003450507

NM_000179.3(MSH6):c.4001G>T (p.Arg1334Leu)

SNV
Germline

Chr2:47806651

Likely pathogenic

Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346761610

rs_267608122

2 SubmittersRCV003450515 RCV006473209

NM_000535.7(PMS2):c.903G>C (p.Lys301Asn)

SNV
Germline

Chr7:5995534

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA366743397

rs_267608153

3 SubmittersRCV003450525 RCV005705170 RCV006561670

NM_000179.3(MSH6):c.1141G>T (p.Glu381Ter)

SNV
Unknown

Chr2:47799124

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

CA346742150

rs_142111387

1 SubmittersRCV003450538

NM_000251.3(MSH2):c.1387-2A>T

SNV
Germline

Chr2:47463029

Likely pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346726643

rs_1573547594

2 SubmittersRCV003452227 RCV003759863

NM_000535.7(PMS2):c.221G>A (p.Gly74Glu)

SNV
Germline

Chr7:6004001

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366744817

rs_876661272

3 SubmittersRCV004596585 RCV003452384

NM_000535.7(PMS2):c.2039G>A (p.Gly680Asp)

SNV
Germline

Chr7:5982959

Likely pathogenic

Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366738129

rs_2128704364

2 SubmittersRCV003452385 RCV005467963

NM_000535.7(PMS2):c.2528G>C (p.Cys843Ser)

SNV
Unknown

Chr7:5973460

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366734860

rs_267608174

1 SubmittersRCV003452388

NM_000535.7(PMS2):c.164-1G>T

SNV
Unknown

Chr7:6004059

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366744936

rs_763308607

1 SubmittersRCV003452389

NM_000535.7(PMS2):c.2501T>C (p.Met834Thr)

SNV
Unknown

Chr7:5973487

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366734924

rs_2128658183

1 SubmittersRCV003452390

NM_000535.7(PMS2):c.251-1G>C

SNV
Germline

Chr7:6003793

Pathogenic/Likely pathogenic

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA048613

rs_764171734

3 SubmittersRCV003452392 RCV003759864 RCV004654228

NM_000535.7(PMS2):c.804-11A>G

SNV
Germline

Chr7:5995644

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA2695198421

rs_2128776611

2 SubmittersRCV003585403 RCV003452393

NM_000535.7(PMS2):c.622C>T (p.Gln208Ter)

SNV
Germline

Chr7:5999191

Pathogenic

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366743967

rs_1784808623

2 SubmittersRCV003452400 RCV003594681

NM_000535.7(PMS2):c.1217T>G (p.Leu406Ter)

SNV
Germline

Chr7:5987548

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366742546

rs_759692592

2 SubmittersRCV003585404 RCV003452406

NM_000535.7(PMS2):c.2335G>T (p.Gly779Ter)

SNV
Unknown

Chr7:5977698

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366735943

rs_587780053

1 SubmittersRCV003452409

NM_000535.7(PMS2):c.909C>A (p.Cys303Ter)

SNV
Unknown

Chr7:5992052

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366743215

rs_1199497563

1 SubmittersRCV003452416

NM_000535.7(PMS2):c.584C>A (p.Ser195Ter)

SNV
Germline

Chr7:5999229

Pathogenic

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366744038

rs_2128801488

2 SubmittersRCV003452419 RCV003778513

NM_000535.7(PMS2):c.1545C>A (p.Cys515Ter)

SNV
Unknown

Chr7:5987220

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366741621

rs_1057520347

1 SubmittersRCV003452430

NM_000535.7(PMS2):c.1417G>T (p.Glu473Ter)

SNV
Unknown

Chr7:5987348

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366742056

rs_786203427

1 SubmittersRCV003452432

NM_000535.7(PMS2):c.447C>G (p.Tyr149Ter)

SNV
Unknown

Chr7:6002543

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366744328

rs_1224505288

1 SubmittersRCV003452433

NM_000535.7(PMS2):c.757G>T (p.Glu253Ter)

SNV
Unknown

Chr7:5997372

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

CA366743698

rs_2536223812

1 SubmittersRCV003452441

NM_000535.7(PMS2):c.20C>A (p.Ser7Ter)

SNV
Germline

Chr7:6009000

Pathogenic

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA366745222

rs_587780048

2 SubmittersRCV003452444 RCV006473213

NM_000535.7(PMS2):c.298C>T (p.Gln100Ter)

SNV
Germline

Chr7:6003745

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744631

rs_1554304696

2 SubmittersRCV005399407 RCV003452453

NM_000249.4(MLH1):c.1043T>A (p.Leu348Ter)

SNV
Germline

Chr3:37025641

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA352052029

rs_755401753

4 SubmittersRCV003452643 RCV004943049 RCV005100143 RCV005439132

NM_000251.3(MSH2):c.989T>G (p.Leu330Arg)

SNV
Unknown

Chr2:47416342

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346733105

rs_63750630

1 SubmittersRCV003454364

NM_000251.3(MSH2):c.2087C>G (p.Pro696Arg)

SNV
Unknown

Chr2:47476448

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729211

rs_267607994

1 SubmittersRCV003454366

NM_000251.3(MSH2):c.2194A>C (p.Thr732Pro)

SNV
Unknown

Chr2:47476555

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729410

rs_1667315990

1 SubmittersRCV003454367

NM_000251.3(MSH2):c.2246A>G (p.Glu749Gly)

SNV
Unknown

Chr2:47478307

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729754

rs_2528979410

1 SubmittersRCV003454368

NM_000251.3(MSH2):c.2005+2T>A

SNV
Unknown

Chr2:47475272

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346728974

rs_267607987

1 SubmittersRCV003454371

NM_000251.3(MSH2):c.809T>G (p.Leu270Arg)

SNV
Unknown

Chr2:47414285

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346732764

rs_1573451078

1 SubmittersRCV003454372

NM_000251.3(MSH2):c.120C>T (p.Gly40=)

SNV
Germline

Chr2:47403311

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA426119424

rs_2103875094

3 SubmittersRCV003477299 RCV005249516 RCV005675206

NM_000179.3(MSH6):c.1633A>T (p.Lys545Ter)

SNV
Germline

Chr2:47799616

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346747170

rs_1064793403

2 SubmittersRCV003595058 RCV004368999

NM_000535.7(PMS2):c.481C>T (p.Gln161Ter)

SNV
Germline

Chr7:6002509

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744267

rs_2128816708

2 SubmittersRCV003595266 RCV006634030

NM_000535.7(PMS2):c.603T>C (p.Ser201=)

SNV
Germline

Chr7:5999210

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453647132

rs_2128801080

3 SubmittersRCV004369409 RCV003593783 RCV005425163

NM_000179.3(MSH6):c.14G>C (p.Ser5Thr)

SNV
Germline

Chr2:47783247

Conflicting classifications of pathogenicity

Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA067765

rs_532585602

2 SubmittersRCV005392646 RCV003593807

NM_000251.3(MSH2):c.2211-10T>C

SNV
Germline

Chr2:47478262

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA2697548047

rs_267608006

3 SubmittersRCV003584471 RCV003759891 RCV005249567

NM_000535.7(PMS2):c.*2C>G

SNV
Germline

Chr7:5973397

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA049053

rs_764124442

2 SubmittersRCV003585722 RCV005422363

NM_000535.7(PMS2):c.2533C>T (p.His845Tyr)

SNV
Germline

Chr7:5973455

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366734850

rs_1781489538

2 SubmittersRCV003585724 RCV006634033

NM_000249.4(MLH1):c.2104-13A>T

SNV
Germline

Chr3:37050473

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA2702493472

rs_2148521475

3 SubmittersRCV003759966 RCV005249573 RCV004011650

NM_000535.7(PMS2):c.270T>C (p.Ser90=)

SNV
Germline

Chr7:6003773

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA453647997

rs_876660414

3 SubmittersRCV003760128 RCV005468008 RCV005422378

NM_000251.3(MSH2):c.1347G>A (p.Lys449=)

SNV
Germline

Chr2:47445618

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA425955549

rs_587781331

3 SubmittersRCV005249601 RCV005445916 RCV003758379

NM_000179.3(MSH6):c.940A>C (p.Ser314Arg)

SNV
Germline

Chr2:47798923

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346740775

rs_1553412366

3 SubmittersRCV004636800 RCV003758465 RCV005422396

NM_000179.3(MSH6):c.1781T>A (p.Val594Asp)

SNV
Germline

Chr2:47799764

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346749244

rs_1669372526

2 SubmittersRCV003758275 RCV006262020

NM_000179.3(MSH6):c.1744T>C (p.Phe582Leu)

SNV
Germline

Chr2:47799727

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA346748887

rs_2104364872

2 SubmittersRCV003758429 RCV005422394

NM_000535.7(PMS2):c.353G>C (p.Ser118Thr)

SNV
Germline

Chr7:6003690

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744523

rs_1394474494

3 SubmittersRCV003759413 RCV006428099 RCV005871263

NM_000535.7(PMS2):c.538-14T>C

SNV
Germline

Chr7:5999289

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA2713826134

rs_2128802538

2 SubmittersRCV003760587 RCV005422418

NM_000251.3(MSH2):c.2760T>C (p.Asn920=)

SNV
Germline

Chr2:47482904

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA425971843

rs_2104462361

3 SubmittersRCV003760568 RCV005422416 RCV005000021

NM_000251.3(MSH2):c.1577C>G (p.Thr526Ser)

SNV
Germline

Chr2:47466724

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346727836

rs_1204369578

4 SubmittersRCV003815000 RCV004006088 RCV004573343 RCV004943244

NM_000251.3(MSH2):c.211G>A (p.Gly71Arg)

SNV
Germline

Chr2:47403402

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

CA346729065

rs_587782659

1 SubmittersRCV003990424

NM_000251.3(MSH2):c.258A>T (p.Glu86Asp)

SNV
Germline

Chr2:47408447

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346729547

rs_1573436461

2 SubmittersRCV004014528 RCV004636885

NM_000179.3(MSH6):c.3646G>T (p.Gly1216Ter)

SNV
Germline

Chr2:47805707

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346760637

rs_1114167690

2 SubmittersRCV004015081 RCV005403394

NM_000251.3(MSH2):c.1864C>T (p.Pro622Ser)

SNV
Germline

Chr2:47475129

Conflicting classifications of pathogenicity

Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346728463

rs_63750280

2 SubmittersRCV004012423 RCV004819255

NM_000535.7(PMS2):c.1238A>G (p.Lys413Arg)

SNV
Germline

Chr7:5987527

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA366742503

rs_1445088475

2 SubmittersRCV004017043 RCV004943294

NM_000179.3(MSH6):c.1942A>G (p.Ser648Gly)

SNV
Germline

Chr2:47799925

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA46709970

rs_965228819

2 SubmittersRCV004015304 RCV005103309

NM_000249.4(MLH1):c.885-1G>T

SNV
Germline

Chr3:37020309

Likely pathogenic

Lynch syndrome

Criteria Provided
Single Submitter

CA352048330

rs_1553647894

1 SubmittersRCV004018076

NM_000535.7(PMS2):c.338C>A (p.Ser113Ter)

SNV
Germline

Chr7:6003705

Pathogenic

Lynch syndrome

Criteria Provided
Single Submitter

CA366744552

rs_1785365441

1 SubmittersRCV004018331

NM_000535.7(PMS2):c.164-2A>C

SNV
Germline

Chr7:6004060

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366744938

rs_587779324

2 SubmittersRCV004943302 RCV004440117

NM_000179.3(MSH6):c.992C>G (p.Ser331Ter)

SNV
Germline

Chr2:47798975

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346741118

rs_1669281225

2 SubmittersRCV004520747 RCV005422481

NM_000535.7(PMS2):c.1929G>C (p.Gln643His)

SNV
Germline

Chr7:5986836

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA366739206

rs_786203379

2 SubmittersRCV005426338 RCV004518708

NM_000251.3(MSH2):c.1474A>C (p.Met492Leu)

SNV
Germline

Chr2:47463118

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_774419666

2 SubmittersRCV004576231 RCV006382255

NM_000179.3(MSH6):c.1531A>G (p.Arg511Gly)

SNV
Germline

Chr2:47799514

Conflicting classifications of pathogenicity

Endometrial carcinoma
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

rs_773303940

3 SubmittersRCV004576256 RCV004796871 RCV005100912

NM_000251.3(MSH2):c.46G>T (p.Glu16Ter)

SNV
Germline

Chr2:47403237

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

rs_2465579125

2 SubmittersRCV004589204 RCV005102036

NM_000179.3(MSH6):c.261-2A>C

SNV
Germline

Chr2:47790925

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV004654498 RCV004787149 RCV006262021

NM_000251.3(MSH2):c.1386+4T>A

SNV
Germline

Chr2:47445661

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004654417 RCV005249711

NM_000179.3(MSH6):c.3647-2A>G

SNV
Germline

Chr2:47806202

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV004759490

NM_000251.3(MSH2):c.589A>T (p.Lys197Ter)

SNV
Unknown

Chr2:47410316

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004788961

NM_000179.3(MSH6):c.1624C>G (p.Leu542Val)

SNV
Germline

Chr2:47799607

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004806826 RCV005363368

NM_000179.3(MSH6):c.3025A>G (p.Lys1009Glu)

SNV
Germline

Chr2:47801008

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004806833 RCV005105206

NM_000535.7(PMS2):c.1077G>A (p.Leu359=)

SNV
Germline

Chr7:5989867

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004946246 RCV005426379 RCV005000594

NM_000179.3(MSH6):c.411C>T (p.Ser137=)

SNV
Germline

Chr2:47791077

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004997795 RCV005426403 RCV006411998

NM_000535.7(PMS2):c.461G>A (p.Gly154Glu)

SNV
Germline

Chr7:6002529

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005106141 RCV006434564

NM_000251.3(MSH2):c.943-2A>C

SNV
Germline

Chr2:47416294

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005133883 RCV005861394

NM_000251.3(MSH2):c.1227G>A (p.Gln409=)

SNV
Germline

Chr2:47429892

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005198818 RCV005249829 RCV006274504

NM_000179.3(MSH6):c.3438+2T>A

SNV
Unknown

Chr2:47803687

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV005246213

NM_000251.3(MSH2):c.2256A>G (p.Arg752=)

SNV
Germline

Chr2:47478317

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005247613 RCV006387459

NM_000179.3(MSH6):c.796A>T (p.Lys266Ter)

SNV
Unknown

Chr2:47798779

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV005247775

NM_000179.3(MSH6):c.2560A>T (p.Lys854Ter)

SNV
Germline

Chr2:47800543

Pathogenic

Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Single Submitter

1 SubmittersRCV005362188

NM_000179.3(MSH6):c.3559G>T (p.Glu1187Ter)

SNV
Germline

Chr2:47805620

Pathogenic

Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Single Submitter

1 SubmittersRCV005362194

NM_000535.7(PMS2):c.1421C>T (p.Ala474Val)

SNV
Germline

Chr7:5987344

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005356662 RCV005393023 RCV006567200

NM_000535.7(PMS2):c.*6G>C

SNV
Germline

Chr7:5973393

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005424358 RCV006553523

NM_000535.7(PMS2):c.*9A>G

SNV
Unknown

Chr7:5973390

Conflicting classifications of pathogenicity

Lynch syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005427577 RCV006259687

NM_000179.3(MSH6):c.2900T>A (p.Ile967Lys)

SNV
Unknown

Chr2:47800883

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV005427692

NM_000179.3(MSH6):c.3086T>A (p.Leu1029Ter)

SNV
Unknown

Chr2:47801069

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV005621735

NM_000179.3(MSH6):c.149G>A (p.Trp50Ter)

SNV
Unknown

Chr2:47783382

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV005882977

NM_000535.7(PMS2):c.250+1G>T

SNV
Unknown

Chr7:6003971

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV005883027

NM_000249.4(MLH1):c.1919C>A (p.Pro640His)

SNV
Germline

Chr3:37048539

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV006252925

NM_000249.4(MLH1):c.83C>G (p.Pro28Arg)

SNV
Germline

Chr3:36993630

Likely pathogenic

Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Single Submitter

1 SubmittersRCV006436608

NM_000535.7(PMS2):c.277C>T (p.Gln93Ter)

SNV
Germline

Chr7:6003766

Likely pathogenic

Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Single Submitter

1 SubmittersRCV006451876

NM_000535.7(PMS2):c.164-9A>G

SNV
Germline

Chr7:6004067

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV006605018

NM_000179.3(MSH6):c.2455G>T (p.Glu819Ter)

SNV
Germline

Chr2:47800438

Pathogenic

Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Single Submitter

1 SubmittersRCV006605098

NM_000179.3(MSH6):c.574G>T (p.Glu192Ter)

SNV
Unknown

Chr2:47796010

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV006634222