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 cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA019478	rs_28929483	6 SubmittersRCV000001823 RCV000076307 RCV000566777 RCV000630204 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 Mismatch repair cancer syndrome 1 Lynch syndrome 1 Muir-Torré syndrome Gastric cancer	Reviewed By Expert Panel	CA017519	rs_63751108	26 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	9 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 Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Lynch syndrome 1 Muir-Torré syndrome Carcinoma of colon	Reviewed By Expert Panel	CA019533	rs_63750875	22 SubmittersRCV000030245 RCV000130428 RCV000202220 RCV000376757 RCV000524366 RCV000763493 RCV001353396
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)	SNV Germline	Chr7:6002590	Pathogenic	Mismatch repair cancer syndrome 4 Hereditary cancer-predisposing syndrome Lynch syndrome Condition: not provided Lynch syndrome 4 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Mismatch repair cancer syndrome 1 Gastric cancer	Reviewed By Expert Panel	CA012083	rs_63750871	19 SubmittersRCV000009815 RCV000115695 RCV000076872 RCV000212842 RCV000576870 RCV000524474 RCV001310204 RCV001196700 RCV003162222
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)	SNV Germline	Chr7:5977629	Pathogenic	Mismatch repair cancer syndrome 1 Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 4 Mismatch repair cancer syndrome 4 Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms PMS2-related disorder Inherited MMR deficiency (Lynch syndrome) Rhabdomyosarcoma	Reviewed By Expert Panel	CA011441	rs_63751466	19 SubmittersRCV000009818 RCV000076858 RCV000129304 RCV000413126 RCV000409056 RCV001267876 RCV002265552 RCV000524467 RCV003415681 RCV004691719 RCV001257544
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)	SNV Germline	Chr7:5986883	Pathogenic	Lynch syndrome 4 Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA010399	rs_63750451	16 SubmittersRCV000009823 RCV000076834 RCV000220439 RCV000218575 RCV001193819 RCV000524451
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	SNV Germline	Chr7:6005918	Likely pathogenic	Mismatch repair cancer syndrome 1 Lynch syndrome Lynch syndrome 4 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Pituitary carcinoma Mismatch repair cancer syndrome 4 Endometrial carcinoma Breast and/or ovarian cancer Lynch syndrome 1 Lynch syndrome 4 Mismatch repair cancer syndrome 4 PMS2-related cancer disorders PMS2-related disorder Hypertrophic cardiomyopathy 9 Dilated cardiomyopathy 1G Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA009597	rs_121434629	46 SubmittersRCV000009826 RCV000076807 RCV000056324 RCV000115657 RCV000200994 RCV000524432 RCV000722017 RCV001267878 RCV001353458 RCV001797999 RCV001804723 RCV002476951 RCV003335023 RCV003390667 RCV004555831 RCV004691720
NM_000249.4(MLH1):c.131C>T (p.Ser44Phe)	SNV Germline	Chr3:36996633	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA004973	rs_63751109	4 SubmittersRCV000018608 RCV000075169 RCV001269530 RCV002381257
NM_000249.4(MLH1):c.986A>C (p.His329Pro)	SNV Germline	Chr3:37020411	Pathogenic	Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome	Reviewed By Expert Panel	CA013465	rs_63750710	4 SubmittersRCV000215121 RCV000018614 RCV000075954
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)	SNV Germline/somatic	Chr3:37012098	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 Lynch-like syndrome Mismatch repair cancer syndrome 1 Breast and/or ovarian cancer Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome	Reviewed By Expert Panel	CA011496	rs_63751615	24 SubmittersRCV000075801 RCV000115485 RCV001093685 RCV001249951 RCV001267883 RCV003149572 RCV000018616 RCV000202205 RCV000524311 RCV003137535
NM_000249.4(MLH1):c.199G>T (p.Gly67Trp)	SNV Germline	Chr3:36996701	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008112	rs_63750206	4 SubmittersRCV000075475 RCV000018618 RCV001267885 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 Endometrial carcinoma Lynch-like syndrome Colon cancer Muir-Torré syndrome Mismatch repair cancer syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2 Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA009872	rs_63750781	29 SubmittersRCV000018626 RCV000075666 RCV000144599 RCV000160518 RCV000524293 RCV000570680 RCV001353627 RCV001249927 RCV003229801 RCV004795924 RCV004584176
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser)	SNV Germline	Chr3:37048562	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Lynch syndrome Mismatch repair cancer syndrome 1 Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA007707	rs_63750899	7 SubmittersRCV000018629 RCV000162472 RCV000075432 RCV001267884 RCV001040524 RCV001284501
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter)	SNV Germline	Chr3:37017521	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colon cancer Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA012452	rs_63750691	7 SubmittersRCV000018631 RCV000075875 RCV000704907 RCV000677880 RCV001723579 RCV002408469
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	SNV Germline	Chr3:37048955	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colon cancer Muir-Torré syndrome	Reviewed By Expert Panel	CA008304	rs_63750217	24 SubmittersRCV000018632 RCV000075495 RCV000213700 RCV000202172 RCV000524270 RCV000519240 RCV000763105 RCV001328323 RCV002288511
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu)	SNV Germline	Chr3:36996702	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008188	rs_63749939	9 SubmittersRCV000075482 RCV000132445 RCV000216147 RCV000524267 RCV000018641
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	Reviewed By Expert Panel	CA012394	rs_63751194	23 SubmittersRCV000022502 RCV000034802 RCV000075872 RCV000220712 RCV000524317 RCV000677879 RCV001093673
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	7 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 Lynch-like syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1	Reviewed By Expert Panel	CA005183	rs_63750540	17 SubmittersRCV000030213 RCV000132422 RCV000202201 RCV000524235 RCV000659871 RCV001249929 RCV000763102 RCV001804748
NM_000249.4(MLH1):c.1896+17T>C	SNV Germline	Chr3:37047700	Conflicting classifications of pathogenicity	Lynch syndrome not specified Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA007393	rs_193922368	5 SubmittersRCV000030217 RCV000441911 RCV000581070 RCV002054504 RCV003149580
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 Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome 1 not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA007678	rs_35045067	14 SubmittersRCV000131964 RCV000524258 RCV000587551 RCV000662690 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	Criteria Provided Conflicting Classifications	CA009110	rs_148317871	13 SubmittersRCV000030221 RCV000160545 RCV000411992 RCV000524281 RCV000573289 RCV000767194
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)	SNV Germline/somatic	Chr3:37001045	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome	Reviewed By Expert Panel	CA009575	rs_63751221	18 SubmittersRCV000030223 RCV000220956 RCV000569466 RCV000576742 RCV000524287 RCV001250008
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	Reviewed By Expert Panel	CA010570	rs_193922370	7 SubmittersRCV000018611 RCV000030226 RCV001067834 RCV001725119 RCV001804749
NM_000249.4(MLH1):c.94A>G (p.Ile32Val)	SNV Germline	Chr3:36993641	Conflicting classifications of pathogenicity	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA013254	rs_2020872	9 SubmittersRCV000030233 RCV000217828 RCV000568967 RCV000524324 RCV001030560
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter)	SNV Germline	Chr2:47416383	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome 1	Reviewed By Expert Panel	CA016912	rs_63750245	7 SubmittersRCV000030234 RCV001009753 RCV001224622 RCV000759091 RCV003450651
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)	SNV Germline/somatic	Chr2:47476399	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Malignant tumor of ascending colon Lynch-like syndrome Lynch syndrome 4	Reviewed By Expert Panel	CA019872	rs_63749932	21 SubmittersRCV000030248 RCV000115515 RCV000202174 RCV000576755 RCV000524372 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	Criteria Provided Conflicting Classifications	CA021148	rs_193922374	6 SubmittersRCV000030254 RCV000115531 RCV000212584 RCV001079015
NM_000251.3(MSH2):c.942+3A>T	SNV Germline/somatic	Chr2:47414421	Pathogenic	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 MSH2-related disorder Lynch syndrome 1	Reviewed By Expert Panel	CA022585	rs_193922376	31 SubmittersRCV000030256 RCV000115549 RCV000201997 RCV000524424 RCV001249912 RCV001353565 RCV001579303 RCV001731319 RCV004734535 RCV000001844
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	Criteria Provided Conflicting Classifications	CA016697	rs_193922345	5 SubmittersRCV000030278 RCV000423476 RCV000805479 RCV002256010
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)	SNV Germline	Chr2:47799850	Conflicting classifications of pathogenicity	Condition: not provided Lynch syndrome not specified Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms MSH6-related disorder	Criteria Provided Conflicting Classifications	CA009344	rs_3136334	13 SubmittersRCV000034494 RCV000074692 RCV000121577 RCV000128867 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	17 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 Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary nonpolyposis colorectal neoplasms Malignant tumor of breast not specified Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA019161	rs_201118107	17 SubmittersRCV000034553 RCV000076263 RCV000115510 RCV000148636 RCV000765667 RCV001079601 RCV001354468 RCV002265576 RCV003492329
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	24 SubmittersRCV000034554 RCV000076286 RCV000115511 RCV000148641 RCV000200985 RCV000659882 RCV000765668 RCV001081309 RCV003149607
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 Malignant tumor of breast Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 MSH2-related disorder	Criteria Provided Conflicting Classifications	CA020577	rs_202145681	14 SubmittersRCV000034556 RCV000121564 RCV000129519 RCV001030484 RCV001356651 RCV001787035 RCV001080801 RCV001093691 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	25 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	26 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 Hereditary cancer-predisposing syndrome Lynch syndrome not specified Lynch syndrome 4 Mismatch repair cancer syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 4 PMS2-related disorder Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA012293	rs_201343342	18 SubmittersRCV000034630 RCV000115698 RCV000123089 RCV000212836 RCV000515284 RCV001083711 RCV001159382 RCV003944883 RCV003149612
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	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 4 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA012634	rs_201395630	10 SubmittersRCV000165656 RCV000231924 RCV000412437 RCV001290448 RCV000034634
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	Criteria Provided Conflicting Classifications	CA013092	rs_146176004	20 SubmittersRCV000034637 RCV000115707 RCV000121855 RCV000123093 RCV000786854 RCV001082141 RCV003492334 RCV003891470
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	18 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 Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Mismatch repair cancer syndrome 3 Endometrial carcinoma Lynch syndrome 5 Breast and/or ovarian cancer MSH6-related disorder Endometrial carcinoma	Reviewed By Expert Panel	CA015060	rs_267608094	25 SubmittersRCV000035325 RCV000202305 RCV000131743 RCV000410467 RCV000524203 RCV001824584 RCV002490471 RCV003492340 RCV004528168 RCV003460548
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys)	SNV Germline	Chr19:38580090	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA024150	rs_118192180	5 SubmittersRCV000056232 RCV000119518 RCV001854163 RCV003996488 RCV004555852
NM_000179.3(MSH6):c.*85T>A	SNV Germline	Chr2:47806945	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 5 Hereditary cancer Hereditary nonpolyposis colorectal neoplasms	Criteria Provided Conflicting Classifications	CA016549	rs_2020906	8 SubmittersRCV000202135 RCV002256038 RCV002274909 RCV000986755 RCV003492396 RCV002514327
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	16 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 nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome not specified Carcinoma of colon Lynch syndrome Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA008097	rs_587779205	8 SubmittersRCV000479933 RCV000629837 RCV000569385 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 Lynch syndrome 5 not specified 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 RCV000410444 RCV000422207 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 Lynch syndrome Endometrial carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA008413	rs_63749971	6 SubmittersRCV000570856 RCV001063935 RCV003997064 RCV003466932 RCV004724790
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	Reviewed By Expert Panel	CA008516	rs_63750741	12 SubmittersRCV000074651 RCV000491070 RCV000576688 RCV000627730 RCV001804803 RCV003137604 RCV003466933
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)	SNV Germline/somatic	Chr2:47799385	Conflicting classifications of pathogenicity	Lynch syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Endometrial carcinoma MSH6-related disorder Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Lynch syndrome 5 Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA008576	rs_369456858	13 SubmittersRCV000074653 RCV000222213 RCV000166488 RCV000587141 RCV004566916 RCV004528269 RCV000524109 RCV001535649 RCV003450925
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 Hereditary breast ovarian cancer syndrome Endometrial carcinoma	Reviewed By Expert Panel	CA008614	rs_63750909	19 SubmittersRCV000074656 RCV000215386 RCV000410127 RCV000491001 RCV000524108 RCV001355905 RCV004794357 RCV003128135
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	Criteria Provided Conflicting Classifications	CA008673	rs_61754783	12 SubmittersRCV000115374 RCV000212649 RCV000524111 RCV000587662 RCV001353728 RCV003997066
NM_000179.3(MSH6):c.1477G>T (p.Glu493Ter)	SNV Germline	Chr2:47799460	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA008679	rs_267608046	1 SubmittersRCV000074658
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 Lynch-like syndrome Carcinoma of colon Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA008701	rs_587779212	24 SubmittersRCV000074659 RCV000131420 RCV000202276 RCV000524112 RCV001249984 RCV001353858 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	Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Condition: not provided Lynch syndrome 5 Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA008805	rs_587779215	8 SubmittersRCV000491949 RCV000798747 RCV000074665 RCV002266921 RCV003450926 RCV002469003
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	10 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 Endometrial carcinoma Lynch syndrome Hereditary nonpolyposis colon cancer	Criteria Provided Conflicting Classifications	CA009088	rs_542838372	14 SubmittersRCV000115381 RCV000409690 RCV000491847 RCV000524118 RCV003235029 RCV003466935 RCV003997068 RCV003993789
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)	SNV Germline	Chr2:47799722	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms not specified Mismatch repair cancer syndrome 3 Lynch syndrome 5 Endometrial carcinoma Endometrial carcinoma Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA009108	rs_41295270	12 SubmittersRCV000131189 RCV000485534 RCV000524119 RCV001818236 RCV002498356 RCV003466936 RCV004019093
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	11 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 Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA009299	rs_63750564	5 SubmittersRCV000074690 RCV002408572 RCV003450933 RCV003593866 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	Criteria Provided Conflicting Classifications	CA009330	rs_63751121	7 SubmittersRCV000132230 RCV000221704 RCV000524122 RCV003460665 RCV003997069
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	Criteria Provided Conflicting Classifications	CA009475	rs_34938432	14 SubmittersRCV000074697 RCV000166227 RCV000219792 RCV000409155 RCV000524127 RCV001355116 RCV001703971 RCV004537274
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	Criteria Provided Conflicting Classifications	CA009545	rs_555209664	10 SubmittersRCV000130794 RCV000507463 RCV000679222 RCV001083193 RCV003460666 RCV003997070
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 not specified Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA009620	rs_587779227	16 SubmittersRCV000074709 RCV000128865 RCV000212657 RCV000524130 RCV000583928 RCV000576301 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	Reviewed By Expert Panel	CA009627	rs_267608068	11 SubmittersRCV000074710 RCV000162397 RCV000201965 RCV000530716 RCV001353419 RCV002222379 RCV003450938 RCV004724791
NM_000179.3(MSH6):c.2080T>C (p.Cys694Arg)	SNV Germline	Chr2:47800063	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	13 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 Mismatch repair cancer syndrome 3 Lynch syndrome 5 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	7 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 Endometrial carcinoma Lynch syndrome 5	Reviewed By Expert Panel	CA009710	rs_587779232	6 SubmittersRCV000074719 RCV000130308 RCV000690199 RCV003148645 RCV003460669 RCV003450942
NM_000179.3(MSH6):c.2177T>A (p.Phe726Tyr)	SNV Germline	Chr2:47800160	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Hereditary cancer-predisposing syndrome Condition: not provided Endometrial carcinoma Lynch syndrome	Criteria Provided Conflicting Classifications	CA009822	rs_574358605	12 SubmittersRCV000524133 RCV000662512 RCV000568729 RCV001582560 RCV003466941 RCV003997072
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 Endometrial carcinoma Lynch syndrome 5 MSH6-related disorder	Reviewed By Expert Panel	CA009856	rs_63751127	15 SubmittersRCV000074726 RCV000132226 RCV000212661 RCV000524134 RCV002281906 RCV003466942 RCV003450944 RCV004739332
NM_000179.3(MSH6):c.2282G>A (p.Arg761Lys)	SNV Germline	Chr2:47800265	Conflicting classifications of pathogenicity	Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Condition: not provided not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA009957	rs_587779233	7 SubmittersRCV000410000 RCV001045519 RCV001284513 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 Endometrial carcinoma Lynch syndrome 5	Reviewed By Expert Panel	CA010016	rs_63750138	16 SubmittersRCV000074732 RCV000162422 RCV000218399 RCV000524139 RCV001353694 RCV003466943 RCV002467437
NM_000179.3(MSH6):c.2330G>A (p.Trp777Ter)	SNV Germline	Chr2:47800313	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA010055	rs_587779234	1 SubmittersRCV000074736
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	Criteria Provided Conflicting Classifications	CA010206	rs_63751450	15 SubmittersRCV000130124 RCV000148651 RCV000212666 RCV000410826 RCV000524143 RCV000586083 RCV001356592 RCV003466944 RCV003997077
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	Hereditary cancer-predisposing syndrome not specified Colorectal cancer Condition: not provided Mismatch repair cancer syndrome 1 Lynch syndrome 5 Endometrial carcinoma Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Carcinoma of colon Breast and/or ovarian cancer MSH6-related disorder	Criteria Provided Conflicting Classifications	CA010423	rs_34374438	19 SubmittersRCV000129191 RCV000121574 RCV000148652 RCV000585210 RCV000764424 RCV000986723 RCV001083699 RCV001093694 RCV001353909 RCV003149719 RCV004528270
NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr)	SNV Germline	Chr2:47800580	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Condition: not provided Endometrial carcinoma Lynch syndrome MSH6-related disorder	Criteria Provided Conflicting Classifications	CA010469	rs_190075874	13 SubmittersRCV000222631 RCV000479488 RCV000524146 RCV000662498 RCV000759136 RCV003137607 RCV003997079 RCV004542741
NM_000179.3(MSH6):c.2702G>A (p.Arg901His)	SNV Germline	Chr2:47800685	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Endometrial carcinoma Lynch syndrome	Criteria Provided Conflicting Classifications	CA010764	rs_63749889	7 SubmittersRCV000559913 RCV000570122 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 Hereditary nonpolyposis colon cancer Gastric cancer Mismatch repair cancer syndrome 3 Endometrial carcinoma Lynch syndrome 5	Reviewed By Expert Panel	CA010815	rs_63751017	27 SubmittersRCV000074777 RCV000129807 RCV000148645 RCV000202017 RCV000411710 RCV000524149 RCV001353531 RCV001554337 RCV002271398 RCV003162471 RCV002477210
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 Condition: not provided Hereditary nonpolyposis colon cancer Gastric cancer Endometrial carcinoma	Reviewed By Expert Panel	CA010831	rs_587779246	15 SubmittersRCV000074779 RCV000491845 RCV001056241 RCV001357595 RCV001262897 RCV002267828 RCV002281907 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	Reviewed By Expert Panel	CA010943	rs_63750140	3 SubmittersRCV000074783 RCV000491935 RCV003450950
NM_000179.3(MSH6):c.2906A>C (p.Tyr969Ser)	SNV Germline	Chr2:47800889	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Endometrial carcinoma Lynch syndrome 5 MSH6-related disorder	Criteria Provided Conflicting Classifications	CA011072	rs_63749919	5 SubmittersRCV000552775 RCV003477462 RCV002433573 RCV003398659 RCV004528271
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	Criteria Provided Conflicting Classifications	CA011105	rs_63751113	8 SubmittersRCV000218618 RCV000455514 RCV000629775 RCV002273954 RCV003460673 RCV004700372
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 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA011115	rs_63750111	10 SubmittersRCV000074788 RCV000491868 RCV001008655 RCV001804805 RCV002514330 RCV003450952 RCV004566920
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)	SNV Germline	Chr2:47800966	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Lynch syndrome 5	Reviewed By Expert Panel	CA011274	rs_63750258	8 SubmittersRCV000074793 RCV000491673 RCV001269505 RCV001062414 RCV001804806 RCV003450954
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	Reviewed By Expert Panel	CA011340	rs_63750563	21 SubmittersRCV000074795 RCV000202164 RCV000491215 RCV000624966 RCV000808924 RCV001263506 RCV003460674
NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter)	SNV Germline	Chr2:47801003	Pathogenic	Mismatch repair cancer syndrome 3 Lynch syndrome Lynch syndrome 5 Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA011367	rs_587779252	4 SubmittersRCV000009493 RCV000074796 RCV000202503 RCV002433574 RCV004696679
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	7 SubmittersRCV000074801 RCV000491450 RCV000687014 RCV003450956 RCV004595907
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 Hereditary nonpolyposis colon cancer Endometrial carcinoma Mismatch repair cancer syndrome 3 Endometrial carcinoma Lynch syndrome 5 Lynch syndrome 5 Gastric cancer	Reviewed By Expert Panel	CA011558	rs_63749999	24 SubmittersRCV000074803 RCV000223452 RCV000484829 RCV000524153 RCV001194362 RCV001355855 RCV002477211 RCV003450957 RCV003162473
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 Endometrial carcinoma Mismatch repair cancer syndrome 1 Lynch syndrome 5 Endometrial carcinoma not specified	Criteria Provided Conflicting Classifications	CA011694	rs_587779254	9 SubmittersRCV000218375 RCV000409200 RCV000565213 RCV000627700 RCV000764427 RCV003460677 RCV003493433
NM_000179.3(MSH6):c.3172+1G>T	SNV Germline	Chr2:47801156	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Condition: not provided Endometrial carcinoma Lynch syndrome 5	Reviewed By Expert Panel	CA011722	rs_587779255	8 SubmittersRCV000074809 RCV000627710 RCV000565688 RCV001194394 RCV003114239 RCV003460678 RCV003450959
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	SNV Germline/somatic	Chr2:47803449	Pathogenic	Lynch syndrome Lynch syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma Mismatch repair cancer syndrome 1 Lynch syndrome 5 Endometrial carcinoma Carcinoma of colon Lynch-like syndrome Hereditary nonpolyposis colon cancer Gastric cancer	Reviewed By Expert Panel	CA011916	rs_63749843	31 SubmittersRCV000074817 RCV000172816 RCV000160692 RCV000201960 RCV000524156 RCV000607176 RCV000763497 RCV001253564 RCV001353539 RCV001249973 RCV003389678 RCV003162474
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 Gastric cancer Breast and/or ovarian cancer Endometrial carcinoma Lynch syndrome Inherited MMR deficiency (Lynch syndrome) MSH6-related disorder Inherited prostate cancer	Reviewed By Expert Panel	CA012063	rs_63750617	30 SubmittersRCV000074823 RCV000162445 RCV000254700 RCV000524159 RCV000709742 RCV000780464 RCV001356266 RCV001564011 RCV003162475 RCV003492400 RCV003466947 RCV003997086 RCV004808573 RCV004739334 RCV004584185
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)	SNV Germline	Chr2:47803492	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Carcinoma of colon Lynch syndrome 5 MSH6-related disorder	Criteria Provided Conflicting Classifications	CA012135	rs_191109849	18 SubmittersRCV000074824 RCV000115409 RCV000121583 RCV000656898 RCV001085899 RCV001093655 RCV001358430 RCV002288561 RCV004528272
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr)	SNV Germline	Chr2:47803506	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Ovarian cancer MSH6-related disorder	Criteria Provided Conflicting Classifications	CA012215	rs_63750998	10 SubmittersRCV000131160 RCV000212679 RCV001137558 RCV001083021 RCV003153343 RCV004537277
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 Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Breast carcinoma Lynch syndrome 5 MSH6-related disorder	Criteria Provided Conflicting Classifications	CA012243	rs_63750998	18 SubmittersRCV000131245 RCV000148653 RCV000212678 RCV000514075 RCV000764429 RCV001079820 RCV001262368 RCV003325179 RCV004537278
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 Mismatch repair cancer syndrome 1 Lynch syndrome 5 Endometrial carcinoma Breast and/or ovarian cancer Lynch syndrome 5 not specified	Criteria Provided Conflicting Classifications	CA012273	rs_63750753	12 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 not specified Lynch syndrome 5 Hereditary nonpolyposis colorectal neoplasms Condition: not provided Lynch syndrome	Criteria Provided Conflicting Classifications	CA012443	rs_63750253	11 SubmittersRCV000164048 RCV000433110 RCV000412287 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 Mismatch repair cancer syndrome 1 Lynch syndrome 5 Endometrial carcinoma Malignant tumor of breast Endometrial carcinoma Lynch syndrome 5 MSH6-related disorder	Criteria Provided Conflicting Classifications	CA012473	rs_63750442	17 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	Criteria Provided Conflicting Classifications	CA012724	rs_587779261	6 SubmittersRCV000573399 RCV000524174 RCV001800369 RCV003460682 RCV003997088
NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser)	SNV Germline	Chr2:47803662	Likely pathogenic	Hereditary cancer-predisposing syndrome Lynch syndrome 5	Criteria Provided Multiple Submitters No Conflicts		rs_63751063	2 SubmittersRCV002452190 RCV003454113
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 Lynch syndrome 5 Malignant tumor of breast Lynch syndrome Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA012799	rs_267608089	14 SubmittersRCV000115415 RCV000212683 RCV000524175 RCV000656899 RCV002288562 RCV001357449 RCV003997089 RCV003460683
NM_000179.3(MSH6):c.3436C>T (p.Gln1146Ter)	SNV Germline	Chr2:47803683	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5	Reviewed By Expert Panel	CA012815	rs_63750356	5 SubmittersRCV000074849 RCV000561009 RCV000657654 RCV000629768 RCV003450966
NM_000179.3(MSH6):c.3438+1G>A	SNV Germline	Chr2:47803686	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 5	Reviewed By Expert Panel	CA012865	rs_267608096	3 SubmittersRCV000074854 RCV002453381 RCV003450967
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	16 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 Endometrial carcinoma Lynch syndrome 5	Reviewed By Expert Panel	CA013109	rs_587779267	10 SubmittersRCV000074867 RCV000115417 RCV000491292 RCV000791426 RCV003466948 RCV003450970
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	Criteria Provided Conflicting Classifications	CA013188	rs_63749834	13 SubmittersRCV000163879 RCV000433073 RCV000524179 RCV000662442 RCV001081095 RCV003997091 RCV004542743
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	Criteria Provided Conflicting Classifications	CA013469	rs_587779272	8 SubmittersRCV000478227 RCV000582224 RCV000685790 RCV003450973 RCV004566921 RCV004804043
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 Endometrial carcinoma Lynch syndrome 5 Lynch syndrome	Criteria Provided Multiple Submitters No Conflicts	CA013478	rs_63751328	8 SubmittersRCV000166108 RCV000679239 RCV001302789 RCV003230394 RCV003460687 RCV003450974 RCV003997093
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 Lynch syndrome 5 Endometrial carcinoma not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA013519	rs_587779273	9 SubmittersRCV000129370 RCV000212685 RCV000524181 RCV000662842 RCV000764434 RCV003987347 RCV003997094
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	10 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	4 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	Criteria Provided Conflicting Classifications	CA014030	rs_587779285	7 SubmittersRCV000216969 RCV000684809 RCV000767045 RCV003460689 RCV004017385
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 Lynch syndrome MSH6-related disorder	Criteria Provided Conflicting Classifications	CA014214	rs_375459388	12 SubmittersRCV000160699 RCV000212689 RCV000408995 RCV000524187 RCV000587284 RCV003997096 RCV004537280
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 Mismatch repair cancer syndrome 1 Lynch syndrome 5 Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA014232	rs_63751058	13 SubmittersRCV000074926 RCV000202271 RCV000491038 RCV000546623 RCV003483461 RCV003450979 RCV003460691
NM_000179.3(MSH6):c.3772C>T (p.Gln1258Ter)	SNV Germline	Chr2:47806329	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA014244	rs_63750554	3 SubmittersRCV000074927 RCV003593872 RCV004696680
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	11 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 Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA014495	rs_63750139	8 SubmittersRCV000074940 RCV000603416 RCV001229855 RCV001723643 RCV002362701
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 Breast and/or ovarian cancer Endometrial carcinoma	Criteria Provided Conflicting Classifications	CA014580	rs_63750836	13 SubmittersRCV000131709 RCV000454725 RCV000662523 RCV000759868 RCV001082428 RCV001357732 RCV003492403 RCV003448259
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	20 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	6 SubmittersRCV000074969 RCV000491060 RCV000812440 RCV002267832 RCV003450986
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)	SNV Germline	Chr2:47806651	Pathogenic	Condition: not provided Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA015202	rs_267608122	19 SubmittersRCV000160701 RCV000074974 RCV000542786 RCV000491705 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	18 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 Lynch syndrome 5 Hereditary cancer-predisposing syndrome Condition: not provided Endometrial carcinoma	Reviewed By Expert Panel	CA015491	rs_63750342	6 SubmittersRCV000074987 RCV000144625 RCV003450987 RCV002326786 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 Hereditary cancer-predisposing syndrome Lynch syndrome 5	Reviewed By Expert Panel	CA015627	rs_267608035	4 SubmittersRCV000075000 RCV001190339 RCV003450988
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 Hereditary nonpolyposis colon cancer MSH6-related disorder	Reviewed By Expert Panel	CA015662	rs_63749873	19 SubmittersRCV000075003 RCV000172813 RCV000201956 RCV000524207 RCV000490955 RCV000576312 RCV001357340 RCV003466952 RCV004782043 RCV004739337
NM_000179.3(MSH6):c.599C>A (p.Ser200Ter)	SNV Germline	Chr2:47796035	Pathogenic	Lynch syndrome Condition: not provided	Reviewed By Expert Panel	CA015935	rs_63751077	2 SubmittersRCV000075008 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	3 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	Criteria Provided Conflicting Classifications	CA016186	rs_41557217	23 SubmittersRCV000115440 RCV000121575 RCV000588752 RCV000659887 RCV001083709 RCV001353587 RCV001564013 RCV001798257 RCV003492405
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)	SNV Germline	Chr2:47798677	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA016261	rs_587779318	11 SubmittersRCV000075025 RCV000412800 RCV001383732 RCV003450991 RCV003460700 RCV002362703
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	Reviewed By Expert Panel	CA016325	rs_63750019	17 SubmittersRCV000075028 RCV000220361 RCV000657653 RCV000704209 RCV001310159 RCV001358367 RCV002288564 RCV003460701
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 Lynch syndrome 5 Endometrial carcinoma Hereditary nonpolyposis colorectal neoplasms Hereditary breast ovarian cancer syndrome MSH6-related disorder	Criteria Provided Conflicting Classifications	CA016371	rs_267608026	16 SubmittersRCV000075031 RCV000115442 RCV000417385 RCV000524214 RCV000765674 RCV001082180 RCV003482130 RCV004528274
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)	SNV Germline	Chr2:47798725	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colon cancer Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA016391	rs_63749980	15 SubmittersRCV000075032 RCV000524215 RCV000486750 RCV000490932 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 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 5 Endometrial carcinoma Lynch syndrome	Criteria Provided Conflicting Classifications	CA016421	rs_554884560	8 SubmittersRCV000215096 RCV000220612 RCV000630227 RCV000662409 RCV003460703 RCV003997102
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	Criteria Provided Conflicting Classifications	CA016429	rs_587779321	6 SubmittersRCV000506023 RCV000803732 RCV001026537 RCV003997103 RCV004767059
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 Endometrial carcinoma Mismatch repair cancer syndrome 3 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	Reviewed By Expert Panel	CA016485	rs_63750552	2 SubmittersRCV000075038 RCV003450994
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	Criteria Provided Conflicting Classifications	CA016543	rs_63750878	9 SubmittersRCV000160657 RCV000148648 RCV000212635 RCV000556949 RCV001174593 RCV003997105 RCV004566926
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	16 SubmittersRCV000075042 RCV000115445 RCV000212636 RCV000410872 RCV000512927 RCV000524217 RCV004700373
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)	SNV Germline	Chr2:47798875	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 5 Endometrial carcinoma	Reviewed By Expert Panel	CA016604	rs_146816935	14 SubmittersRCV000075043 RCV000551832 RCV000149892 RCV000130865 RCV003450996 RCV003466953
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 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Malignant tumor of breast Hereditary breast ovarian cancer syndrome Lynch syndrome Hereditary cancer MLH1-related disorder	Criteria Provided Conflicting Classifications	CA004051	rs_63751467	19 SubmittersRCV000128912 RCV000148621 RCV000220791 RCV000524219 RCV000656860 RCV000764485 RCV001356843 RCV003483462 RCV003997106 RCV004700374 RCV004748551
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 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004088	rs_267607816	5 SubmittersRCV000075082 RCV001093692 RCV001249908 RCV002514334 RCV003450998
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	Reviewed By Expert Panel	CA004100	rs_63751715	10 SubmittersRCV000075085 RCV000214854 RCV000506818 RCV000629976 RCV003450999
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 Hereditary nonpolyposis colorectal neoplasms MLH1-related disorder	Reviewed By Expert Panel	CA004118	rs_267607815	6 SubmittersRCV000075090 RCV003441739 RCV003137609 RCV002514335 RCV003390766
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	Lynch syndrome Condition: not provided Carcinoma of colon Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004200	rs_63749906	5 SubmittersRCV000075100 RCV001269567 RCV001353714 RCV002399429 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 cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004476	rs_267607706	5 SubmittersRCV000075121 RCV001176886 RCV001206557 RCV003451007
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)	SNV Germline	Chr3:37025751	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome not specified 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	Criteria Provided Conflicting Classifications	CA004503	rs_63750760	14 SubmittersRCV000075124 RCV000217569 RCV000202088 RCV000490290 RCV000524225 RCV000656862 RCV000764489 RCV001030628 RCV003149731 RCV003492407
NM_000249.4(MLH1):c.116+1G>A	SNV Germline	Chr3:36993664	Likely pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA004527	rs_267607709	8 SubmittersRCV000075127 RCV000709737 RCV001284001 RCV002514337 RCV001294059 RCV002354257
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	7 SubmittersRCV000075129 RCV000413453 RCV000694368 RCV000776333 RCV001358274 RCV003451008
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	Reviewed By Expert Panel	CA004606	rs_587778894	4 SubmittersRCV000075144 RCV001034673 RCV002288566
NM_000249.4(MLH1):c.1192C>T (p.Gln398Ter)	SNV Germline	Chr3:37025790	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA004676	rs_63750483	4 SubmittersRCV000075146 RCV001383026 RCV002336222 RCV003451011
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	Reviewed By Expert Panel	CA004765	rs_63751153	5 SubmittersRCV000075156 RCV000541219 RCV002362706 RCV003451013
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	8 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 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA005246	rs_267607825	10 SubmittersRCV000075192 RCV000220831 RCV000519388 RCV000524237 RCV003451024 RCV004782044
NM_000249.4(MLH1):c.1409+1G>C	SNV Germline	Chr3:37026008	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA005254	rs_267607825	5 SubmittersRCV000075193 RCV002390216 RCV002513800 RCV003451025 RCV002281908
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 Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 not specified	Criteria Provided Conflicting Classifications	CA005399	rs_147939838	10 SubmittersRCV000075209 RCV000820563 RCV000679267 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 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome 1 Carcinoma of colon Lynch-like syndrome MLH1-related disorder	Reviewed By Expert Panel	CA005475	rs_63749795	23 SubmittersRCV000075218 RCV000128870 RCV000255034 RCV000524240 RCV000662808 RCV000763103 RCV001093677 RCV001353584 RCV001249944 RCV004748554
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	Reviewed By Expert Panel	CA005491	rs_587778918	1 SubmittersRCV000075220
NM_000249.4(MLH1):c.146T>A (p.Val49Glu)	SNV Germline	Chr3:36996648	Pathogenic	Lynch syndrome	Reviewed By Expert Panel	CA005522	rs_63750098	1 SubmittersRCV000075223
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 Colorectal cancer, hereditary nonpolyposis, type 2 not specified	Criteria Provided Conflicting Classifications	CA005528	rs_63751145	11 SubmittersRCV000075224 RCV000132236 RCV000212538 RCV000524241 RCV003474657 RCV003478994
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 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA005534	rs_63750226	12 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 Lynch syndrome 1 Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA005817	rs_267607832	4 SubmittersRCV000075246 RCV001804813 RCV002399432 RCV003315592
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 Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome	Reviewed By Expert Panel	CA005891	rs_267607837	7 SubmittersRCV000075254 RCV000539690 RCV001012154 RCV001091800 RCV003455989 RCV003448260
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 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 not specified	Criteria Provided Conflicting Classifications	CA005937	rs_63751630	14 SubmittersRCV000075265 RCV000483197 RCV000566893 RCV000627718 RCV000662491 RCV001778702
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	7 SubmittersRCV000075283 RCV000657575 RCV001201351 RCV002399438 RCV003451042
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 Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA006231	rs_63750193	4 SubmittersRCV000075292 RCV000570739 RCV003451045 RCV001212034
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	9 SubmittersRCV000075300 RCV000214110 RCV000629693 RCV001353428 RCV003451048
NM_000249.4(MLH1):c.1668-1G>T	SNV Germline	Chr3:37042267	Likely pathogenic	Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006313	rs_267607845	5 SubmittersRCV001854292 RCV000075301 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	4 SubmittersRCV000075308 RCV000791445 RCV002399443 RCV003455990
NM_000249.4(MLH1):c.1672G>T (p.Glu558Ter)	SNV Germline	Chr3:37042272	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA006355	rs_63751081	2 SubmittersRCV000075309 RCV002399444
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 colon cancer Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006391	rs_63751460	6 SubmittersRCV000075313 RCV001192578 RCV001240104 RCV001310198 RCV002408574 RCV003451051
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 Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA006527	rs_267607853	9 SubmittersRCV000075322 RCV000574302 RCV001250003 RCV001579372 RCV003451053 RCV002514341
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 Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA006540	rs_267607853	7 SubmittersRCV000075324 RCV000576509 RCV000685725 RCV002408577 RCV001567027
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	Reviewed By Expert Panel	CA006555	rs_267607856	3 SubmittersRCV000075326 RCV000797048 RCV003451055
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 Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA006570	rs_267607850	5 SubmittersRCV000075328 RCV002279946 RCV001012888 RCV003451056 RCV001201385
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 Colon cancer Hereditary nonpolyposis colon cancer Lynch syndrome 1 Breast and/or ovarian cancer Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 MLH1-related disorder	Reviewed By Expert Panel	CA006585	rs_63751657	19 SubmittersRCV000075331 RCV000132025 RCV000202231 RCV000524246 RCV000662481 RCV001580146 RCV001553748 RCV001804815 RCV003492410 RCV002483122 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 Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA006625	rs_267607852	5 SubmittersRCV000075335 RCV000506870 RCV001386351 RCV003451058 RCV002399446
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	Reviewed By Expert Panel	CA006836	rs_63750016	2 SubmittersRCV000075360 RCV003451065
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 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA006929	rs_63750604	9 SubmittersRCV000075365 RCV000479277 RCV000565193 RCV001354093 RCV003153348 RCV003451068 RCV003492411
NM_000249.4(MLH1):c.1810A>T (p.Lys604Ter)	SNV Germline	Chr3:37047597	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA006984	rs_63750386	4 SubmittersRCV000075370 RCV000985779 RCV002255277 RCV003451069
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	20 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 Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA007410	rs_267607867	4 SubmittersRCV000075404 RCV000541555 RCV003451077 RCV002408583
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	7 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 Hereditary nonpolyposis colon cancer Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA007444	rs_63751632	15 SubmittersRCV000075409 RCV000498248 RCV000524256 RCV001193961 RCV000605751 RCV001013527
NM_000249.4(MLH1):c.1897-2A>G	SNV Germline	Chr3:37048515	Likely pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 not specified	Reviewed By Expert Panel	CA007469	rs_267607871	12 SubmittersRCV000075411 RCV000487325 RCV000524638 RCV000570210 RCV000662785 RCV000763104 RCV001844029
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	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	Reviewed By Expert Panel	CA007602	rs_63749792	7 SubmittersRCV000075424 RCV000569430 RCV000791363 RCV001193959 RCV001354000 RCV002223786 RCV002291271
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	Criteria Provided Multiple Submitters No Conflicts	CA007611	rs_267607875	4 SubmittersRCV000075425 RCV000821758 RCV002408588 RCV003451083
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 Choreoathetosis Aqueductal stenosis Global developmental delay Lynch syndrome Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary breast ovarian cancer syndrome MLH1-related disorder	Criteria Provided Conflicting Classifications	CA007619	rs_63750952	17 SubmittersRCV000075426 RCV000217492 RCV000513562 RCV000490571 RCV000584818 RCV000708912 RCV001262297 RCV002288569 RCV004760365 RCV004748556
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)	SNV Germline	Chr3:37048563	Likely pathogenic	Lynch syndrome 1 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	Reviewed By Expert Panel	CA007716	rs_63750610	8 SubmittersRCV000075433 RCV000221413 RCV000477957 RCV001269952 RCV000812087 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 Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007760	rs_63751202	4 SubmittersRCV000075437 RCV001203288 RCV002415523 RCV003451086
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	Reviewed By Expert Panel	CA007789	rs_63750726	10 SubmittersRCV000075439 RCV000215855 RCV001201909 RCV001554328 RCV002415524 RCV002463635 RCV004724792
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	14 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	Criteria Provided Conflicting Classifications	CA007891	rs_63749900	10 SubmittersRCV000121365 RCV000568527 RCV000656865 RCV001081501 RCV003997120
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	Reviewed By Expert Panel	CA007900	rs_63749900	5 SubmittersRCV000075447 RCV001064800 RCV002415525 RCV003237435 RCV003451088
NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu)	SNV Germline	Chr3:37048596	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA007908	rs_63749900	3 SubmittersRCV000075448 RCV000572238
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro)	SNV Germline	Chr3:37048604	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms not specified Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA007926	rs_587778964	6 SubmittersRCV000075450 RCV000524263 RCV000780422 RCV001013906 RCV003451089
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	Reviewed By Expert Panel	CA007969	rs_267607879	5 SubmittersRCV000075456 RCV001054272 RCV003451090 RCV004696684 RCV004943744
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	Criteria Provided Multiple Submitters No Conflicts	CA007990	rs_267607878	4 SubmittersRCV000075459 RCV001040247 RCV002415527 RCV003451091
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 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA008052	rs_267607884	5 SubmittersRCV000075467 RCV000985780 RCV001013970 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 Hereditary nonpolyposis colon cancer Lynch syndrome 1 Carcinoma of colon	Reviewed By Expert Panel	CA008104	rs_63750206	23 SubmittersRCV000075474 RCV000128871 RCV000202032 RCV000524266 RCV000662719 RCV001249945 RCV001290649 RCV001310195 RCV001353779
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	Reviewed By Expert Panel	CA008127	rs_587778967	4 SubmittersRCV000075477 RCV000629832 RCV002415530 RCV003477467
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	Reviewed By Expert Panel	CA008195	rs_63750663	4 SubmittersRCV000075483 RCV001249947 RCV002415532 RCV003451094
NM_000249.4(MLH1):c.2027T>C (p.Leu676Pro)	SNV Germline	Chr3:37048941	Conflicting classifications of pathogenicity	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Criteria Provided Conflicting Classifications	CA008222	rs_63750242	5 SubmittersRCV000075485 RCV000216198 RCV000987189 RCV000695668 RCV000985781
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)	SNV Germline	Chr3:37048949	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided Hereditary cancer-predisposing syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008258	rs_587778971	6 SubmittersRCV000075489 RCV000529563 RCV000507295 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	7 SubmittersRCV000075490 RCV000215088 RCV000791351 RCV001353998 RCV003451096
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)	SNV Germline	Chr3:37048952	Conflicting classifications of pathogenicity	Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms not specified Lynch syndrome	Criteria Provided Conflicting Classifications	CA008274	rs_63750809	13 SubmittersRCV000411388 RCV000483931 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 cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008289	rs_63749867	6 SubmittersRCV000075493 RCV000573665 RCV000524268 RCV003451097
NM_000249.4(MLH1):c.2040C>T (p.Cys680=)	SNV Germline/somatic	Chr3:37048954	Conflicting classifications of pathogenicity	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Criteria Provided Conflicting Classifications	CA008297	rs_63749867	8 SubmittersRCV000075494 RCV000662499 RCV000567661 RCV000541158 RCV001711130
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)	SNV Germline	Chr3:37048962	Likely pathogenic	Lynch syndrome Condition: not provided not specified Hereditary cancer-predisposing syndrome Carcinoma of colon Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008321	rs_587778972	7 SubmittersRCV000075497 RCV000589365 RCV000790627 RCV001014231 RCV001355274 RCV001209526 RCV003451098
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)	SNV Germline	Chr3:37048973	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome 1 Carcinoma of colon MLH1-related disorder	Reviewed By Expert Panel	CA008336	rs_63751275	23 SubmittersRCV000075499 RCV000215428 RCV000411954 RCV000481137 RCV000524272 RCV000763106 RCV001093679 RCV001356525 RCV003915039
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	Reviewed By Expert Panel	CA008419	rs_267607718	10 SubmittersRCV000075505 RCV000128866 RCV000202020 RCV000627707 RCV003451099
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 cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008435	rs_267607722	6 SubmittersRCV000075508 RCV000507560 RCV001000153 RCV001014311 RCV001210840 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	Reviewed By Expert Panel	CA008505	rs_267607717	4 SubmittersRCV000075514 RCV000629825 RCV002415535 RCV003451100
NM_000249.4(MLH1):c.208-2A>G	SNV Germline	Chr3:37000953	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008517	rs_267607716	3 SubmittersRCV000075516 RCV002415536 RCV003137610
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 Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 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 Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008537	rs_63749995	6 SubmittersRCV000075523 RCV001059462 RCV002415537 RCV003455995
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 Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA008607	rs_63750114	7 SubmittersRCV000075528 RCV001854297 RCV003451104 RCV003480053 RCV002415540
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	Reviewed By Expert Panel	CA008626	rs_267607888	6 SubmittersRCV000075529 RCV000202158 RCV001380413 RCV002415541
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 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colon cancer Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008661	rs_63750603	8 SubmittersRCV000075534 RCV000694604 RCV001014446 RCV001093697 RCV001549279 RCV003477468 RCV002288570
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 Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008714	rs_267607889	3 SubmittersRCV000075540 RCV002415543 RCV003451106
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 nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1 Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA008833	rs_63750561	11 SubmittersRCV000075550 RCV000202047 RCV000686456 RCV000581002 RCV001310200 RCV003451108
NM_000249.4(MLH1):c.2136G>A (p.Trp712Ter)	SNV Germline/somatic	Chr3:37050518	Pathogenic	Lynch syndrome Lynch-like syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Reviewed By Expert Panel	CA008842	rs_63750499	5 SubmittersRCV000075551 RCV001249996 RCV002415546 RCV003451109 RCV004700376
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 Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Reviewed By Expert Panel	CA008850	rs_63751022	9 SubmittersRCV000075553 RCV000144606 RCV000165669 RCV001044497 RCV003451110 RCV002280100
NM_000249.4(MLH1):c.2153A>C (p.His718Pro)	SNV Germline	Chr3:37050535	Likely pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome	Reviewed By Expert Panel	CA008900	rs_587778983	3 SubmittersRCV000075557 RCV000694232 RCV002247469
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 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 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 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Criteria Provided Conflicting Classifications	CA009007	rs_566928243	16 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	5 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	Reviewed By Expert Panel	CA009197	rs_267607894	12 SubmittersRCV000075583 RCV000216146 RCV000478074 RCV000627694 RCV001355258 RCV001823108 RCV004724793
NM_000249.4(MLH1):c.229T>C (p.Cys77Arg)	SNV Germline	Chr3:37000976	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Condition: not provided	Reviewed By Expert Panel	CA009324	rs_63749859	5 SubmittersRCV000075596 RCV000220766 RCV001854300 RCV001192575 RCV001358424
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)	SNV Germline	Chr3:37000977	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Reviewed By Expert Panel	CA009334	rs_63750437	11 SubmittersRCV000075598 RCV000791362 RCV000562335 RCV001262551 RCV003477469
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	14 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 Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer Condition: not provided	Reviewed By Expert Panel	CA009423	rs_63750005	8 SubmittersRCV000075604 RCV000222555 RCV000659867 RCV000630024 RCV001778703 RCV003477470
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)	SNV Germline	Chr3:37000997	Likely pathogenic	Lynch syndrome Condition: not provided Carcinoma of colon Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009442	rs_63750641	7 SubmittersRCV000075606 RCV001269582 RCV001353981 RCV002433575 RCV001201354 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	6 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.299G>C (p.Arg100Pro)	SNV Germline	Chr3:37001046	Pathogenic	Lynch syndrome 1 Condition: not provided Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA009587	rs_63750266	6 SubmittersRCV000075619 RCV001532480 RCV002281909 RCV001854301 RCV002291272
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 Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA009600	rs_111052004	5 SubmittersRCV000075621 RCV001800370 RCV002433577 RCV002288572 RCV003593883
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 Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA009611	rs_267607726	6 SubmittersRCV000075623 RCV000486320 RCV000502831 RCV001211883 RCV003451125 RCV003162483
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	Reviewed By Expert Panel	CA009617	rs_267607727	4 SubmittersRCV000075624 RCV000481030 RCV000568721 RCV003451126
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 Colorectal cancer, hereditary nonpolyposis, type 2 Gastric cancer Condition: not provided	Reviewed By Expert Panel	CA009647	rs_267607734	6 SubmittersRCV000075628 RCV000544543 RCV002444531 RCV003451128 RCV003162484 RCV003237436
NM_000249.4(MLH1):c.306+5G>A	SNV Germline	Chr3:37001058	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1	Reviewed By Expert Panel	CA009684	rs_267607735	9 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	4 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	Reviewed By Expert Panel	CA009732	rs_267607736	4 SubmittersRCV000075641 RCV000478493 RCV002319436 RCV003451131
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	5 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 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 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 Hereditary cancer-predisposing syndrome Lynch syndrome 1	Reviewed By Expert Panel	CA009864	rs_63750781	7 SubmittersRCV000075665 RCV000202256 RCV000569088 RCV000622257
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	Criteria Provided Conflicting Classifications	CA009965	rs_200076893	10 SubmittersRCV000217922 RCV000410157 RCV000524295 RCV000571582 RCV003149739 RCV003997129
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 Hereditary cancer-predisposing syndrome Lynch-like syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA010040	rs_267607745	8 SubmittersRCV000075679 RCV000524296 RCV000486012 RCV001021188 RCV001249909 RCV001353869 RCV003451139
NM_000249.4(MLH1):c.380+2T>A	SNV Germline	Chr3:37004476	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA010049	rs_267607742	5 SubmittersRCV000075680 RCV002354258 RCV003451140 RCV001215653
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	Reviewed By Expert Panel	CA010057	rs_267607742	6 SubmittersRCV000075681 RCV001356725 RCV002354259 RCV003451141
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	4 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	Reviewed By Expert Panel	CA010150	rs_63750866	1 SubmittersRCV000075687
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 Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA010246	rs_63751124	3 SubmittersRCV000075698 RCV003162485 RCV003451146
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 Hereditary nonpolyposis colon cancer Condition: not provided	Reviewed By Expert Panel	CA010267	rs_72481822	6 SubmittersRCV000075700 RCV000215403 RCV000554881 RCV001293607 RCV001354275
NM_000249.4(MLH1):c.436C>T (p.Gln146Ter)	SNV Germline	Chr3:37007046	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA010388	rs_63749820	4 SubmittersRCV000075706 RCV000551153 RCV004019104 RCV002326788
NM_000249.4(MLH1):c.445C>T (p.Gln149Ter)	SNV Germline	Chr3:37007055	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA010427	rs_63751302	3 SubmittersRCV000075708 RCV003162486 RCV003451148
NM_000249.4(MLH1):c.453+1G>T	SNV Germline	Chr3:37007064	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	CA010483	rs_267607750	8 SubmittersRCV000075712 RCV000160522 RCV000704046 RCV001022649 RCV000576794
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	Reviewed By Expert Panel	CA010560	rs_267607749	10 SubmittersRCV000075719 RCV000480337 RCV000524301 RCV000565961 RCV001356457 RCV003452739
NM_000249.4(MLH1):c.454-1G>T	SNV Germline	Chr3:37008813	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA010579	rs_193922370	2 SubmittersRCV000075720 RCV002336223
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	Reviewed By Expert Panel	CA010624	rs_63750891	3 SubmittersRCV000075730 RCV003452740 RCV004629149
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	Criteria Provided Conflicting Classifications	CA010656	rs_63749924	8 SubmittersRCV000130760 RCV000524302 RCV000522486 RCV003997131 RCV004748558
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.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	Criteria Provided Conflicting Classifications	CA010855	rs_63750102	12 SubmittersRCV000131749 RCV000212519 RCV000411648 RCV000524305 RCV003320556 RCV003997133
NM_000249.4(MLH1):c.544A>G (p.Arg182Gly)	SNV Germline	Chr3:37008904	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA010872	rs_63750211	4 SubmittersRCV000075747 RCV000684818 RCV000570187 RCV001353413
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 Lynch-like syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1	Reviewed By Expert Panel	CA010914	rs_267607760	15 SubmittersRCV000075749 RCV000215515 RCV000564669 RCV000609647 RCV001249949 RCV001202202 RCV001804822
NM_000249.4(MLH1):c.545G>A (p.Arg182Lys)	SNV Germline	Chr3:37008905	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA010950	rs_587779021	4 SubmittersRCV000075753 RCV001854303 RCV003452745 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 cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA010963	rs_587779022	6 SubmittersRCV000075754 RCV000482173 RCV001854304 RCV003162487 RCV003452746 RCV002271399
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 Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA011003	rs_63750515	5 SubmittersRCV000075761 RCV000218149 RCV003452749 RCV001385098 RCV002345382
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	Reviewed By Expert Panel	CA011026	rs_63750648	5 SubmittersRCV000075763 RCV000162610 RCV000483320 RCV000680175 RCV000791372
NM_000249.4(MLH1):c.578C>G (p.Ser193Ter)	SNV Germline	Chr3:37011852	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Reviewed By Expert Panel	CA011062	rs_63751480	5 SubmittersRCV000075767 RCV001854305 RCV002354263 RCV003452750 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 Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 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 Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome 1 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 Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1	Reviewed By Expert Panel	CA011189	rs_267607767	13 SubmittersRCV000075780 RCV000160526 RCV000212522 RCV000576331 RCV000524306 RCV001804823
NM_000249.4(MLH1):c.5C>A (p.Ser2Ter)	SNV Germline	Chr3:36993552	Pathogenic	Lynch syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA011228	rs_587779029	4 SubmittersRCV000075784 RCV003456001 RCV004998189 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	8 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 Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 MLH1-related disorder Carcinoma of colon not specified Hereditary breast ovarian cancer syndrome Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA011361	rs_4986984	15 SubmittersRCV000115483 RCV000590255 RCV001079587 RCV000987154 RCV003944989 RCV001354844 RCV000212524 RCV001030563 RCV001093666
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 Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA011528	rs_267607778	8 SubmittersRCV000075803 RCV000480845 RCV001034678 RCV001193208 RCV003452758 RCV002362711
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	Reviewed By Expert Panel	CA011545	rs_267607780	11 SubmittersRCV000075806 RCV000201996 RCV000222833 RCV000812851 RCV001353985 RCV003466960
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	Reviewed By Expert Panel	CA011583	rs_63751711	21 SubmittersRCV000075809 RCV000132197 RCV000202049 RCV000410542 RCV000524312 RCV001093688 RCV001250009 RCV003162489 RCV003128139
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	Reviewed By Expert Panel	CA011592	rs_63751711	14 SubmittersRCV000075810 RCV000160555 RCV000524313 RCV000709741 RCV000708610 RCV001249952
NM_000249.4(MLH1):c.678-1G>C	SNV Germline	Chr3:37014431	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA011606	rs_267607784	4 SubmittersRCV000075813 RCV002362712 RCV003593888 RCV003452760
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 Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA011623	rs_587779035	5 SubmittersRCV000075815 RCV000569823 RCV003452761 RCV001380125
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 colon cancer Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA011669	rs_63750823	9 SubmittersRCV000075822 RCV000160551 RCV000772326 RCV001290676 RCV001258081 RCV000811317
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 Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome 1	Reviewed By Expert Panel	CA011836	rs_63750303	8 SubmittersRCV000075830 RCV000573119 RCV001210008 RCV001354491 RCV003466961 RCV001804824
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 Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA011979	rs_63749827	9 SubmittersRCV000075838 RCV001258082 RCV000520796 RCV002399450 RCV001854309
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 Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA012012	rs_63750642	8 SubmittersRCV000130511 RCV000479043 RCV000705556 RCV004566932 RCV004806052 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	3 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	Reviewed By Expert Panel	CA012109	rs_267607789	18 SubmittersRCV000075847 RCV000214767 RCV000524316 RCV000562275 RCV001249934 RCV001310196 RCV001646997 RCV003128140 RCV003452766
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 Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA012153	rs_267607790	5 SubmittersRCV000075850 RCV002291498 RCV001026933 RCV001382874
NM_000249.4(MLH1):c.790+2T>C	SNV Germline	Chr3:37014546	Pathogenic	Lynch syndrome Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Carcinoma of colon	Reviewed By Expert Panel	CA012162	rs_267607790	6 SubmittersRCV000075851 RCV000812444 RCV002415547 RCV003452768 RCV001353965
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.791-1G>C	SNV Germline	Chr3:37017505	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Condition: not provided	Reviewed By Expert Panel	CA012277	rs_267607795	7 SubmittersRCV000075860 RCV001183311 RCV001388082 RCV002247470 RCV003452771 RCV001723644
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	8 SubmittersRCV000075863 RCV000115486 RCV000212525 RCV000543128 RCV003452773
NM_000249.4(MLH1):c.791-5T>G	SNV Germline	Chr3:37017501	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA012320	rs_267607788	7 SubmittersRCV000075865 RCV000579445 RCV001262553 RCV001379645 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 Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome Carcinoma of colon Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA012384	rs_63751194	9 SubmittersRCV000075871 RCV000202126 RCV000567864 RCV001070683 RCV001249943 RCV001353449 RCV003452775
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	Reviewed By Expert Panel	CA012616	rs_63750889	1 SubmittersRCV000075886
NM_000249.4(MLH1):c.86C>G (p.Ala29Gly)	SNV Germline	Chr3:36993633	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms Condition: not provided	Reviewed By Expert Panel	CA012745	rs_63750216	5 SubmittersRCV000075896 RCV000218998 RCV003452780 RCV003593891 RCV001284650
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	Criteria Provided Multiple Submitters No Conflicts	CA012754	rs_63750517	3 SubmittersRCV000630228 RCV002371909 RCV003235034
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	Reviewed By Expert Panel	CA012784	rs_63751707	7 SubmittersRCV000075900 RCV000574927 RCV000759814 RCV000818945 RCV003452781 RCV004562243
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	Reviewed By Expert Panel	CA012793	rs_63751598	5 SubmittersRCV000075901 RCV001046252 RCV001353502 RCV002371910
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	7 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 Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA012866	rs_63750144	4 SubmittersRCV000075908 RCV000215143 RCV003452784 RCV001220885
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	Reviewed By Expert Panel	CA012922	rs_267607805	9 SubmittersRCV000075914 RCV000132040 RCV000481722 RCV000627716 RCV003452786
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	2 SubmittersRCV000075927 RCV002371911
NM_000249.4(MLH1):c.901C>T (p.Gln301Ter)	SNV Germline/somatic	Chr3:37020326	Pathogenic	Lynch syndrome Condition: not provided See cases Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA013005	rs_63750489	8 SubmittersRCV000075928 RCV001701489 RCV002287363 RCV002371912 RCV003452788 RCV001223223
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	10 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 Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Colorectal cancer, hereditary nonpolyposis, type 2 Malignant tumor of breast Hereditary cancer MLH1-related disorder	Criteria Provided Conflicting Classifications	CA013293	rs_63750796	21 SubmittersRCV000075945 RCV000115489 RCV000144597 RCV000212528 RCV000410221 RCV000524325 RCV000656859 RCV000764484 RCV001357697 RCV003492419 RCV003915040
NM_000249.4(MLH1):c.955G>T (p.Glu319Ter)	SNV Germline	Chr3:37020380	Pathogenic	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Colorectal cancer, hereditary nonpolyposis, type 2	Reviewed By Expert Panel	CA013306	rs_63750796	6 SubmittersRCV000075946 RCV000578913 RCV001034666 RCV001019484 RCV000656559
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
NC_000002.12:g.47402967G>C	SNV Germline	Chr2:47402967	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lynch syndrome 1 Condition: not provided Hereditary nonpolyposis colorectal neoplasms MSH2-related disorder	Criteria Provided Conflicting Classifications	CA021836	rs_138068023	5 SubmittersRCV000165718 RCV000409105 RCV001567568 RCV002055083 RCV004734625
NM_000251.3(MSH2):c.1000A>T (p.Lys334Ter)	SNV Germline	Chr2:47416353	Pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA016794	rs_587779063	2 SubmittersRCV000075993 RCV002321565
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	Reviewed By Expert Panel	CA016831	rs_63750778	7 SubmittersRCV000075997 RCV000153512 RCV000215536 RCV001215910 RCV003452794 RCV004537286
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)	SNV Germline	Chr2:47416365	Pathogenic/Likely pathogenic	Carcinoma of colon Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA016843	rs_63751004	5 SubmittersRCV000500876 RCV002228181 RCV002345383 RCV003452795
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	5 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 Hereditary nonpolyposis colon cancer Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA016940	rs_63750396	8 SubmittersRCV000076005 RCV000202230 RCV000492045 RCV001193248 RCV001258035 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 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms not specified Hereditary nonpolyposis colon cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA016975	rs_267607939	16 SubmittersRCV000128932 RCV000148635 RCV000588936 RCV000764423 RCV000986664 RCV001085377 RCV001844030 RCV002279934 RCV004760366
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 Condition: not provided	Reviewed By Expert Panel	CA016981	rs_587779067	7 SubmittersRCV000076008 RCV000490568 RCV002399451 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	Reviewed By Expert Panel	CA017072	rs_267607940	9 SubmittersRCV000076014 RCV000132414 RCV000485147 RCV000541273 RCV000763489 RCV003452798
NM_000251.3(MSH2):c.1076+1G>T	SNV Germline/somatic	Chr2:47416430	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA017079	rs_267607940	5 SubmittersRCV000076015 RCV000491884 RCV003452799 RCV003593893
NM_000251.3(MSH2):c.1077-1G>C	SNV Germline	Chr2:47429741	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 Condition: not provided	Reviewed By Expert Panel	CA017136	rs_267607944	7 SubmittersRCV000076019 RCV000491682 RCV003452800 RCV001284005
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 nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Condition: not provided Lynch syndrome 1 MSH2-related disorder	Reviewed By Expert Panel	CA017174	rs_267607943	6 SubmittersRCV000076024 RCV000529751 RCV000491149 RCV001811351 RCV003452802 RCV004724794
NM_000251.3(MSH2):c.1077-2A>T	SNV Germline	Chr2:47429740	Likely pathogenic	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA017180	rs_267607943	4 SubmittersRCV000076025 RCV002415552 RCV003452803 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 cancer-predisposing syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome	Criteria Provided Conflicting Classifications	CA017221	rs_587779072	4 SubmittersRCV000574719 RCV000629732 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 nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Lynch syndrome 1	Reviewed By Expert Panel	CA017309	rs_63750267	6 SubmittersRCV000076045 RCV001232220 RCV000583364 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	Criteria Provided Conflicting Classifications	CA017350	rs_267607947	9 SubmittersRCV000487066 RCV000568561 RCV000663061 RCV000703497 RCV003149744 RCV003997141
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 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Hereditary nonpolyposis colon cancer Lynch-like syndrome Rhabdomyosarcoma MSH2-related disorder	Reviewed By Expert Panel	CA017356	rs_63749849	23 SubmittersRCV000076049 RCV000202261 RCV000221364 RCV000524330 RCV000576748 RCV000763490 RCV001192613 RCV001249954 RCV001257542 RCV004537287
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	Criteria Provided Conflicting Classifications	CA017372	rs_564736113	5 SubmittersRCV000794953 RCV001010013 RCV001538801 RCV003997142
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	24 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 cancer-predisposing syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms	Reviewed By Expert Panel	CA017437	rs_63750611	5 SubmittersRCV000076055 RCV001353639 RCV002336224 RCV003452805 RCV001385673
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	Reviewed By Expert Panel	CA017512	rs_63751271	3 SubmittersRCV000076063 RCV002354267
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 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch 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.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	Criteria Provided Conflicting Classifications	CA017727	rs_63751650	16 SubmittersRCV000115500 RCV000202073 RCV000487506 RCV000735971 RCV001082316 RCV001357605 RCV004537288 RCV004799181
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 Mismatch repair cancer syndrome 2 Muir-Torré syndrome Lynch syndrome 1 Lynch syndrome 1 Condition: not provided Hereditary nonpolyposis colon cancer	Reviewed By Expert Panel	CA017756	rs_267607950	8 SubmittersRCV000076088 RCV000491760 RCV000707663 RCV002498365 RCV003452816 RCV003237437 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 Lynch syndrome 1	Reviewed By Expert Panel	CA017815	rs_267607948	4 SubmittersRCV000076097 RCV002371915 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.1865C>T (p.Pro622Leu)

SNV
Germline

Chr2:47475130

Pathogenic

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

Reviewed By Expert Panel

CA019478

rs_28929483

6 SubmittersRCV000001823 RCV000076307 RCV000566777 RCV000630204 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
Mismatch repair cancer syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
Gastric cancer

Reviewed By Expert Panel

CA017519

rs_63751108

26 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

9 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
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 1
Muir-Torré syndrome
Carcinoma of colon

Reviewed By Expert Panel

CA019533

rs_63750875

22 SubmittersRCV000030245 RCV000130428 RCV000202220 RCV000376757 RCV000524366 RCV000763493 RCV001353396

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

SNV
Germline

Chr7:6002590

Pathogenic

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

Reviewed By Expert Panel

CA012083

rs_63750871

19 SubmittersRCV000009815 RCV000115695 RCV000076872 RCV000212842 RCV000576870 RCV000524474 RCV001310204 RCV001196700 RCV003162222

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

SNV
Germline

Chr7:5977629

Pathogenic

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

Reviewed By Expert Panel

CA011441

rs_63751466

19 SubmittersRCV000009818 RCV000076858 RCV000129304 RCV000413126 RCV000409056 RCV001267876 RCV002265552 RCV000524467 RCV003415681 RCV004691719 RCV001257544

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

SNV
Germline

Chr7:5986883

Pathogenic

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

Reviewed By Expert Panel

CA010399

rs_63750451

16 SubmittersRCV000009823 RCV000076834 RCV000220439 RCV000218575 RCV001193819 RCV000524451

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

SNV
Germline

Chr7:6005918

Likely pathogenic

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

Reviewed By Expert Panel

CA009597

rs_121434629

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

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

SNV
Germline

Chr3:36996633

Pathogenic

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

Reviewed By Expert Panel

CA004973

rs_63751109

4 SubmittersRCV000018608 RCV000075169 RCV001269530 RCV002381257

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

SNV
Germline

Chr3:37020411

Pathogenic

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

Reviewed By Expert Panel

CA013465

rs_63750710

4 SubmittersRCV000215121 RCV000018614 RCV000075954

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

SNV
Germline/somatic

Chr3:37012098

Pathogenic

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

Reviewed By Expert Panel

CA011496

rs_63751615

24 SubmittersRCV000075801 RCV000115485 RCV001093685 RCV001249951 RCV001267883 RCV003149572 RCV000018616 RCV000202205 RCV000524311 RCV003137535

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

SNV
Germline

Chr3:36996701

Pathogenic

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

Reviewed By Expert Panel

CA008112

rs_63750206

4 SubmittersRCV000075475 RCV000018618 RCV001267885 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
Endometrial carcinoma
Lynch-like syndrome
Colon cancer
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA009872

rs_63750781

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

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

SNV
Germline

Chr3:37048562

Pathogenic

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

Reviewed By Expert Panel

CA007707

rs_63750899

7 SubmittersRCV000018629 RCV000162472 RCV000075432 RCV001267884 RCV001040524 RCV001284501

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

SNV
Germline

Chr3:37017521

Pathogenic

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

Reviewed By Expert Panel

CA012452

rs_63750691

7 SubmittersRCV000018631 RCV000075875 RCV000704907 RCV000677880 RCV001723579 RCV002408469

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

SNV
Germline

Chr3:37048955

Pathogenic

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

Reviewed By Expert Panel

CA008304

rs_63750217

24 SubmittersRCV000018632 RCV000075495 RCV000213700 RCV000202172 RCV000524270 RCV000519240 RCV000763105 RCV001328323 RCV002288511

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

SNV
Germline

Chr3:36996702

Pathogenic

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

Reviewed By Expert Panel

CA008188

rs_63749939

9 SubmittersRCV000075482 RCV000132445 RCV000216147 RCV000524267 RCV000018641

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

Reviewed By Expert Panel

CA012394

rs_63751194

23 SubmittersRCV000022502 RCV000034802 RCV000075872 RCV000220712 RCV000524317 RCV000677879 RCV001093673

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

7 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
Lynch-like syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA005183

rs_63750540

17 SubmittersRCV000030213 RCV000132422 RCV000202201 RCV000524235 RCV000659871 RCV001249929 RCV000763102 RCV001804748

NM_000249.4(MLH1):c.1896+17T>C

SNV
Germline

Chr3:37047700

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007393

rs_193922368

5 SubmittersRCV000030217 RCV000441911 RCV000581070 RCV002054504 RCV003149580

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
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA007678

rs_35045067

14 SubmittersRCV000131964 RCV000524258 RCV000587551 RCV000662690 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

Criteria Provided
Conflicting Classifications

CA009110

rs_148317871

13 SubmittersRCV000030221 RCV000160545 RCV000411992 RCV000524281 RCV000573289 RCV000767194

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

SNV
Germline/somatic

Chr3:37001045

Pathogenic

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

Reviewed By Expert Panel

CA009575

rs_63751221

18 SubmittersRCV000030223 RCV000220956 RCV000569466 RCV000576742 RCV000524287 RCV001250008

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

Reviewed By Expert Panel

CA010570

rs_193922370

7 SubmittersRCV000018611 RCV000030226 RCV001067834 RCV001725119 RCV001804749

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

SNV
Germline

Chr3:36993641

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013254

rs_2020872

9 SubmittersRCV000030233 RCV000217828 RCV000568967 RCV000524324 RCV001030560

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

SNV
Germline

Chr2:47416383

Pathogenic

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

Reviewed By Expert Panel

CA016912

rs_63750245

7 SubmittersRCV000030234 RCV001009753 RCV001224622 RCV000759091 RCV003450651

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

SNV
Germline/somatic

Chr2:47476399

Pathogenic

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

Reviewed By Expert Panel

CA019872

rs_63749932

21 SubmittersRCV000030248 RCV000115515 RCV000202174 RCV000576755 RCV000524372 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

Criteria Provided
Conflicting Classifications

CA021148

rs_193922374

6 SubmittersRCV000030254 RCV000115531 RCV000212584 RCV001079015

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

SNV
Germline/somatic

Chr2:47414421

Pathogenic

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
MSH2-related disorder
Lynch syndrome 1

Reviewed By Expert Panel

CA022585

rs_193922376

31 SubmittersRCV000030256 RCV000115549 RCV000201997 RCV000524424 RCV001249912 RCV001353565 RCV001579303 RCV001731319 RCV004734535 RCV000001844

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

Criteria Provided
Conflicting Classifications

CA016697

rs_193922345

5 SubmittersRCV000030278 RCV000423476 RCV000805479 RCV002256010

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

SNV
Germline

Chr2:47799850

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009344

rs_3136334

13 SubmittersRCV000034494 RCV000074692 RCV000121577 RCV000128867 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

17 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
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA019161

rs_201118107

17 SubmittersRCV000034553 RCV000076263 RCV000115510 RCV000148636 RCV000765667 RCV001079601 RCV001354468 RCV002265576 RCV003492329

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

24 SubmittersRCV000034554 RCV000076286 RCV000115511 RCV000148641 RCV000200985 RCV000659882 RCV000765668 RCV001081309 RCV003149607

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
Malignant tumor of breast
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020577

rs_202145681

14 SubmittersRCV000034556 RCV000121564 RCV000129519 RCV001030484 RCV001356651 RCV001787035 RCV001080801 RCV001093691 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

25 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

26 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
Hereditary cancer-predisposing syndrome
Lynch syndrome
not specified
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
PMS2-related disorder
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA012293

rs_201343342

18 SubmittersRCV000034630 RCV000115698 RCV000123089 RCV000212836 RCV000515284 RCV001083711 RCV001159382 RCV003944883 RCV003149612

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

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

Criteria Provided
Conflicting Classifications

CA012634

rs_201395630

10 SubmittersRCV000165656 RCV000231924 RCV000412437 RCV001290448 RCV000034634

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

Criteria Provided
Conflicting Classifications

CA013092

rs_146176004

20 SubmittersRCV000034637 RCV000115707 RCV000121855 RCV000123093 RCV000786854 RCV001082141 RCV003492334 RCV003891470

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

18 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
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Breast and/or ovarian cancer
MSH6-related disorder
Endometrial carcinoma

Reviewed By Expert Panel

CA015060

rs_267608094

25 SubmittersRCV000035325 RCV000202305 RCV000131743 RCV000410467 RCV000524203 RCV001824584 RCV002490471 RCV003492340 RCV004528168 RCV003460548

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

SNV
Germline

Chr19:38580090

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024150

rs_118192180

5 SubmittersRCV000056232 RCV000119518 RCV001854163 RCV003996488 RCV004555852

NM_000179.3(MSH6):c.*85T>A

SNV
Germline

Chr2:47806945

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016549

rs_2020906

8 SubmittersRCV000202135 RCV002256038 RCV002274909 RCV000986755 RCV003492396 RCV002514327

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

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

Criteria Provided
Conflicting Classifications

CA008097

rs_587779205

8 SubmittersRCV000479933 RCV000629837 RCV000569385 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
Lynch syndrome 5
not specified
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 RCV000410444 RCV000422207 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
Lynch syndrome
Endometrial carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA008413

rs_63749971

6 SubmittersRCV000570856 RCV001063935 RCV003997064 RCV003466932 RCV004724790

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

Reviewed By Expert Panel

CA008516

rs_63750741

12 SubmittersRCV000074651 RCV000491070 RCV000576688 RCV000627730 RCV001804803 RCV003137604 RCV003466933

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

SNV
Germline/somatic

Chr2:47799385

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008576

rs_369456858

13 SubmittersRCV000074653 RCV000222213 RCV000166488 RCV000587141 RCV004566916 RCV004528269 RCV000524109 RCV001535649 RCV003450925

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
Hereditary breast ovarian cancer syndrome
Endometrial carcinoma

Reviewed By Expert Panel

CA008614

rs_63750909

19 SubmittersRCV000074656 RCV000215386 RCV000410127 RCV000491001 RCV000524108 RCV001355905 RCV004794357 RCV003128135

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

Criteria Provided
Conflicting Classifications

CA008673

rs_61754783

12 SubmittersRCV000115374 RCV000212649 RCV000524111 RCV000587662 RCV001353728 RCV003997066

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

SNV
Germline

Chr2:47799460

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA008679

rs_267608046

1 SubmittersRCV000074658

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
Lynch-like syndrome
Carcinoma of colon
Lynch syndrome 5
Endometrial carcinoma
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA008701

rs_587779212

24 SubmittersRCV000074659 RCV000131420 RCV000202276 RCV000524112 RCV001249984 RCV001353858 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

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

Reviewed By Expert Panel

CA008805

rs_587779215

8 SubmittersRCV000491949 RCV000798747 RCV000074665 RCV002266921 RCV003450926 RCV002469003

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

10 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
Endometrial carcinoma
Lynch syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA009088

rs_542838372

14 SubmittersRCV000115381 RCV000409690 RCV000491847 RCV000524118 RCV003235029 RCV003466935 RCV003997068 RCV003993789

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

SNV
Germline

Chr2:47799722

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009108

rs_41295270

12 SubmittersRCV000131189 RCV000485534 RCV000524119 RCV001818236 RCV002498356 RCV003466936 RCV004019093

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

11 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
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Reviewed By Expert Panel

CA009299

rs_63750564

5 SubmittersRCV000074690 RCV002408572 RCV003450933 RCV003593866 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

Criteria Provided
Conflicting Classifications

CA009330

rs_63751121

7 SubmittersRCV000132230 RCV000221704 RCV000524122 RCV003460665 RCV003997069

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

Criteria Provided
Conflicting Classifications

CA009475

rs_34938432

14 SubmittersRCV000074697 RCV000166227 RCV000219792 RCV000409155 RCV000524127 RCV001355116 RCV001703971 RCV004537274

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

Criteria Provided
Conflicting Classifications

CA009545

rs_555209664

10 SubmittersRCV000130794 RCV000507463 RCV000679222 RCV001083193 RCV003460666 RCV003997070

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
not specified
Lynch syndrome 5
Endometrial carcinoma
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA009620

rs_587779227

16 SubmittersRCV000074709 RCV000128865 RCV000212657 RCV000524130 RCV000583928 RCV000576301 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

Reviewed By Expert Panel

CA009627

rs_267608068

11 SubmittersRCV000074710 RCV000162397 RCV000201965 RCV000530716 RCV001353419 RCV002222379 RCV003450938 RCV004724791

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

SNV
Germline

Chr2:47800063

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

13 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
Mismatch repair cancer syndrome 3
Lynch syndrome 5
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

7 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
Endometrial carcinoma
Lynch syndrome 5

Reviewed By Expert Panel

CA009710

rs_587779232

6 SubmittersRCV000074719 RCV000130308 RCV000690199 RCV003148645 RCV003460669 RCV003450942

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

SNV
Germline

Chr2:47800160

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009822

rs_574358605

12 SubmittersRCV000524133 RCV000662512 RCV000568729 RCV001582560 RCV003466941 RCV003997072

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
Endometrial carcinoma
Lynch syndrome 5
MSH6-related disorder

Reviewed By Expert Panel

CA009856

rs_63751127

15 SubmittersRCV000074726 RCV000132226 RCV000212661 RCV000524134 RCV002281906 RCV003466942 RCV003450944 RCV004739332

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

SNV
Germline

Chr2:47800265

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009957

rs_587779233

7 SubmittersRCV000410000 RCV001045519 RCV001284513 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
Endometrial carcinoma
Lynch syndrome 5

Reviewed By Expert Panel

CA010016

rs_63750138

16 SubmittersRCV000074732 RCV000162422 RCV000218399 RCV000524139 RCV001353694 RCV003466943 RCV002467437

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

SNV
Germline

Chr2:47800313

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA010055

rs_587779234

1 SubmittersRCV000074736

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

Criteria Provided
Conflicting Classifications

CA010206

rs_63751450

15 SubmittersRCV000130124 RCV000148651 RCV000212666 RCV000410826 RCV000524143 RCV000586083 RCV001356592 RCV003466944 RCV003997077

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

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

Criteria Provided
Conflicting Classifications

CA010423

rs_34374438

19 SubmittersRCV000129191 RCV000121574 RCV000148652 RCV000585210 RCV000764424 RCV000986723 RCV001083699 RCV001093694 RCV001353909 RCV003149719 RCV004528270

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

SNV
Germline

Chr2:47800580

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010469

rs_190075874

13 SubmittersRCV000222631 RCV000479488 RCV000524146 RCV000662498 RCV000759136 RCV003137607 RCV003997079 RCV004542741

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

SNV
Germline

Chr2:47800685

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010764

rs_63749889

7 SubmittersRCV000559913 RCV000570122 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
Hereditary nonpolyposis colon cancer
Gastric cancer
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5

Reviewed By Expert Panel

CA010815

rs_63751017

27 SubmittersRCV000074777 RCV000129807 RCV000148645 RCV000202017 RCV000411710 RCV000524149 RCV001353531 RCV001554337 RCV002271398 RCV003162471 RCV002477210

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
Condition: not provided
Hereditary nonpolyposis colon cancer
Gastric cancer
Endometrial carcinoma

Reviewed By Expert Panel

CA010831

rs_587779246

15 SubmittersRCV000074779 RCV000491845 RCV001056241 RCV001357595 RCV001262897 RCV002267828 RCV002281907 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

Reviewed By Expert Panel

CA010943

rs_63750140

3 SubmittersRCV000074783 RCV000491935 RCV003450950

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

SNV
Germline

Chr2:47800889

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011072

rs_63749919

5 SubmittersRCV000552775 RCV003477462 RCV002433573 RCV003398659 RCV004528271

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

Criteria Provided
Conflicting Classifications

CA011105

rs_63751113

8 SubmittersRCV000218618 RCV000455514 RCV000629775 RCV002273954 RCV003460673 RCV004700372

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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma

Reviewed By Expert Panel

CA011115

rs_63750111

10 SubmittersRCV000074788 RCV000491868 RCV001008655 RCV001804805 RCV002514330 RCV003450952 RCV004566920

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

SNV
Germline

Chr2:47800966

Pathogenic

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

Reviewed By Expert Panel

CA011274

rs_63750258

8 SubmittersRCV000074793 RCV000491673 RCV001269505 RCV001062414 RCV001804806 RCV003450954

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

Reviewed By Expert Panel

CA011340

rs_63750563

21 SubmittersRCV000074795 RCV000202164 RCV000491215 RCV000624966 RCV000808924 RCV001263506 RCV003460674

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

SNV
Germline

Chr2:47801003

Pathogenic

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

Reviewed By Expert Panel

CA011367

rs_587779252

4 SubmittersRCV000009493 RCV000074796 RCV000202503 RCV002433574 RCV004696679

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

7 SubmittersRCV000074801 RCV000491450 RCV000687014 RCV003450956 RCV004595907

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
Hereditary nonpolyposis colon cancer
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome 5
Gastric cancer

Reviewed By Expert Panel

CA011558

rs_63749999

24 SubmittersRCV000074803 RCV000223452 RCV000484829 RCV000524153 RCV001194362 RCV001355855 RCV002477211 RCV003450957 RCV003162473

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
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA011694

rs_587779254

9 SubmittersRCV000218375 RCV000409200 RCV000565213 RCV000627700 RCV000764427 RCV003460677 RCV003493433

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

SNV
Germline

Chr2:47801156

Likely pathogenic

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

Reviewed By Expert Panel

CA011722

rs_587779255

8 SubmittersRCV000074809 RCV000627710 RCV000565688 RCV001194394 RCV003114239 RCV003460678 RCV003450959

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

SNV
Germline/somatic

Chr2:47803449

Pathogenic

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

Reviewed By Expert Panel

CA011916

rs_63749843

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

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
Gastric cancer
Breast and/or ovarian cancer
Endometrial carcinoma
Lynch syndrome
Inherited MMR deficiency (Lynch syndrome)
MSH6-related disorder
Inherited prostate cancer

Reviewed By Expert Panel

CA012063

rs_63750617

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

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

SNV
Germline

Chr2:47803492

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012135

rs_191109849

18 SubmittersRCV000074824 RCV000115409 RCV000121583 RCV000656898 RCV001085899 RCV001093655 RCV001358430 RCV002288561 RCV004528272

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

SNV
Germline

Chr2:47803506

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012215

rs_63750998

10 SubmittersRCV000131160 RCV000212679 RCV001137558 RCV001083021 RCV003153343 RCV004537277

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
Lynch syndrome 5
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Breast carcinoma
Lynch syndrome 5
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA012243

rs_63750998

18 SubmittersRCV000131245 RCV000148653 RCV000212678 RCV000514075 RCV000764429 RCV001079820 RCV001262368 RCV003325179 RCV004537278

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
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
Breast and/or ovarian cancer
Lynch syndrome 5
not specified

Criteria Provided
Conflicting Classifications

CA012273

rs_63750753

12 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
not specified
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012443

rs_63750253

11 SubmittersRCV000164048 RCV000433110 RCV000412287 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
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
Malignant tumor of breast
Endometrial carcinoma
Lynch syndrome 5
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA012473

rs_63750442

17 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

Criteria Provided
Conflicting Classifications

CA012724

rs_587779261

6 SubmittersRCV000573399 RCV000524174 RCV001800369 RCV003460682 RCV003997088

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

SNV
Germline

Chr2:47803662

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_63751063

2 SubmittersRCV002452190 RCV003454113

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
Lynch syndrome 5
Malignant tumor of breast
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA012799

rs_267608089

14 SubmittersRCV000115415 RCV000212683 RCV000524175 RCV000656899 RCV002288562 RCV001357449 RCV003997089 RCV003460683

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

SNV
Germline

Chr2:47803683

Pathogenic

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

Reviewed By Expert Panel

CA012815

rs_63750356

5 SubmittersRCV000074849 RCV000561009 RCV000657654 RCV000629768 RCV003450966

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

SNV
Germline

Chr2:47803686

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Reviewed By Expert Panel

CA012865

rs_267608096

3 SubmittersRCV000074854 RCV002453381 RCV003450967

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

16 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
Endometrial carcinoma
Lynch syndrome 5

Reviewed By Expert Panel

CA013109

rs_587779267

10 SubmittersRCV000074867 RCV000115417 RCV000491292 RCV000791426 RCV003466948 RCV003450970

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

Criteria Provided
Conflicting Classifications

CA013188

rs_63749834

13 SubmittersRCV000163879 RCV000433073 RCV000524179 RCV000662442 RCV001081095 RCV003997091 RCV004542743

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

Criteria Provided
Conflicting Classifications

CA013469

rs_587779272

8 SubmittersRCV000478227 RCV000582224 RCV000685790 RCV003450973 RCV004566921 RCV004804043

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
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA013478

rs_63751328

8 SubmittersRCV000166108 RCV000679239 RCV001302789 RCV003230394 RCV003460687 RCV003450974 RCV003997093

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
Lynch syndrome 5
Endometrial carcinoma
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013519

rs_587779273

9 SubmittersRCV000129370 RCV000212685 RCV000524181 RCV000662842 RCV000764434 RCV003987347 RCV003997094

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

10 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

4 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

Criteria Provided
Conflicting Classifications

CA014030

rs_587779285

7 SubmittersRCV000216969 RCV000684809 RCV000767045 RCV003460689 RCV004017385

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
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA014214

rs_375459388

12 SubmittersRCV000160699 RCV000212689 RCV000408995 RCV000524187 RCV000587284 RCV003997096 RCV004537280

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
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Lynch syndrome 5
Endometrial carcinoma

Reviewed By Expert Panel

CA014232

rs_63751058

13 SubmittersRCV000074926 RCV000202271 RCV000491038 RCV000546623 RCV003483461 RCV003450979 RCV003460691

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

SNV
Germline

Chr2:47806329

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Reviewed By Expert Panel

CA014244

rs_63750554

3 SubmittersRCV000074927 RCV003593872 RCV004696680

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

11 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
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA014495

rs_63750139

8 SubmittersRCV000074940 RCV000603416 RCV001229855 RCV001723643 RCV002362701

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
Breast and/or ovarian cancer
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA014580

rs_63750836

13 SubmittersRCV000131709 RCV000454725 RCV000662523 RCV000759868 RCV001082428 RCV001357732 RCV003492403 RCV003448259

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

20 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

6 SubmittersRCV000074969 RCV000491060 RCV000812440 RCV002267832 RCV003450986

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

SNV
Germline

Chr2:47806651

Pathogenic

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

Reviewed By Expert Panel

CA015202

rs_267608122

19 SubmittersRCV000160701 RCV000074974 RCV000542786 RCV000491705 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

18 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
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma

Reviewed By Expert Panel

CA015491

rs_63750342

6 SubmittersRCV000074987 RCV000144625 RCV003450987 RCV002326786 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
Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Reviewed By Expert Panel

CA015627

rs_267608035

4 SubmittersRCV000075000 RCV001190339 RCV003450988

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
Hereditary nonpolyposis colon cancer
MSH6-related disorder

Reviewed By Expert Panel

CA015662

rs_63749873

19 SubmittersRCV000075003 RCV000172813 RCV000201956 RCV000524207 RCV000490955 RCV000576312 RCV001357340 RCV003466952 RCV004782043 RCV004739337

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

SNV
Germline

Chr2:47796035

Pathogenic

Lynch syndrome
Condition: not provided

Reviewed By Expert Panel

CA015935

rs_63751077

2 SubmittersRCV000075008 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

3 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

Criteria Provided
Conflicting Classifications

CA016186

rs_41557217

23 SubmittersRCV000115440 RCV000121575 RCV000588752 RCV000659887 RCV001083709 RCV001353587 RCV001564013 RCV001798257 RCV003492405

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

SNV
Germline

Chr2:47798677

Pathogenic

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

Reviewed By Expert Panel

CA016261

rs_587779318

11 SubmittersRCV000075025 RCV000412800 RCV001383732 RCV003450991 RCV003460700 RCV002362703

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

Reviewed By Expert Panel

CA016325

rs_63750019

17 SubmittersRCV000075028 RCV000220361 RCV000657653 RCV000704209 RCV001310159 RCV001358367 RCV002288564 RCV003460701

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
Lynch syndrome 5
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA016371

rs_267608026

16 SubmittersRCV000075031 RCV000115442 RCV000417385 RCV000524214 RCV000765674 RCV001082180 RCV003482130 RCV004528274

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

SNV
Germline

Chr2:47798725

Pathogenic

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

Reviewed By Expert Panel

CA016391

rs_63749980

15 SubmittersRCV000075032 RCV000524215 RCV000486750 RCV000490932 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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016421

rs_554884560

8 SubmittersRCV000215096 RCV000220612 RCV000630227 RCV000662409 RCV003460703 RCV003997102

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

Criteria Provided
Conflicting Classifications

CA016429

rs_587779321

6 SubmittersRCV000506023 RCV000803732 RCV001026537 RCV003997103 RCV004767059

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
Endometrial carcinoma
Mismatch repair cancer syndrome 3
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

Reviewed By Expert Panel

CA016485

rs_63750552

2 SubmittersRCV000075038 RCV003450994

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

Criteria Provided
Conflicting Classifications

CA016543

rs_63750878

9 SubmittersRCV000160657 RCV000148648 RCV000212635 RCV000556949 RCV001174593 RCV003997105 RCV004566926

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

16 SubmittersRCV000075042 RCV000115445 RCV000212636 RCV000410872 RCV000512927 RCV000524217 RCV004700373

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

SNV
Germline

Chr2:47798875

Pathogenic

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

Reviewed By Expert Panel

CA016604

rs_146816935

14 SubmittersRCV000075043 RCV000551832 RCV000149892 RCV000130865 RCV003450996 RCV003466953

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
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Lynch syndrome
Hereditary cancer
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA004051

rs_63751467

19 SubmittersRCV000128912 RCV000148621 RCV000220791 RCV000524219 RCV000656860 RCV000764485 RCV001356843 RCV003483462 RCV003997106 RCV004700374 RCV004748551

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

Reviewed By Expert Panel

CA004088

rs_267607816

5 SubmittersRCV000075082 RCV001093692 RCV001249908 RCV002514334 RCV003450998

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

Reviewed By Expert Panel

CA004100

rs_63751715

10 SubmittersRCV000075085 RCV000214854 RCV000506818 RCV000629976 RCV003450999

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
Hereditary nonpolyposis colorectal neoplasms
MLH1-related disorder

Reviewed By Expert Panel

CA004118

rs_267607815

6 SubmittersRCV000075090 RCV003441739 RCV003137609 RCV002514335 RCV003390766

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

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

Reviewed By Expert Panel

CA004200

rs_63749906

5 SubmittersRCV000075100 RCV001269567 RCV001353714 RCV002399429 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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA004476

rs_267607706

5 SubmittersRCV000075121 RCV001176886 RCV001206557 RCV003451007

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

SNV
Germline

Chr3:37025751

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
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

Criteria Provided
Conflicting Classifications

CA004503

rs_63750760

14 SubmittersRCV000075124 RCV000217569 RCV000202088 RCV000490290 RCV000524225 RCV000656862 RCV000764489 RCV001030628 RCV003149731 RCV003492407

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

SNV
Germline

Chr3:36993664

Likely pathogenic

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

Reviewed By Expert Panel

CA004527

rs_267607709

8 SubmittersRCV000075127 RCV000709737 RCV001284001 RCV002514337 RCV001294059 RCV002354257

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

7 SubmittersRCV000075129 RCV000413453 RCV000694368 RCV000776333 RCV001358274 RCV003451008

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

Reviewed By Expert Panel

CA004606

rs_587778894

4 SubmittersRCV000075144 RCV001034673 RCV002288566

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

SNV
Germline

Chr3:37025790

Pathogenic

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

Reviewed By Expert Panel

CA004676

rs_63750483

4 SubmittersRCV000075146 RCV001383026 RCV002336222 RCV003451011

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

Reviewed By Expert Panel

CA004765

rs_63751153

5 SubmittersRCV000075156 RCV000541219 RCV002362706 RCV003451013

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

8 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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA005246

rs_267607825

10 SubmittersRCV000075192 RCV000220831 RCV000519388 RCV000524237 RCV003451024 RCV004782044

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

SNV
Germline

Chr3:37026008

Pathogenic

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

Reviewed By Expert Panel

CA005254

rs_267607825

5 SubmittersRCV000075193 RCV002390216 RCV002513800 RCV003451025 RCV002281908

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

Criteria Provided
Conflicting Classifications

CA005399

rs_147939838

10 SubmittersRCV000075209 RCV000820563 RCV000679267 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
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome 1
Carcinoma of colon
Lynch-like syndrome
MLH1-related disorder

Reviewed By Expert Panel

CA005475

rs_63749795

23 SubmittersRCV000075218 RCV000128870 RCV000255034 RCV000524240 RCV000662808 RCV000763103 RCV001093677 RCV001353584 RCV001249944 RCV004748554

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

Reviewed By Expert Panel

CA005491

rs_587778918

1 SubmittersRCV000075220

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

SNV
Germline

Chr3:36996648

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

CA005522

rs_63750098

1 SubmittersRCV000075223

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
Colorectal cancer, hereditary nonpolyposis, type 2
not specified

Criteria Provided
Conflicting Classifications

CA005528

rs_63751145

11 SubmittersRCV000075224 RCV000132236 RCV000212538 RCV000524241 RCV003474657 RCV003478994

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
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA005534

rs_63750226

12 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
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA005817

rs_267607832

4 SubmittersRCV000075246 RCV001804813 RCV002399432 RCV003315592

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
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Reviewed By Expert Panel

CA005891

rs_267607837

7 SubmittersRCV000075254 RCV000539690 RCV001012154 RCV001091800 RCV003455989 RCV003448260

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

Criteria Provided
Conflicting Classifications

CA005937

rs_63751630

14 SubmittersRCV000075265 RCV000483197 RCV000566893 RCV000627718 RCV000662491 RCV001778702

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

7 SubmittersRCV000075283 RCV000657575 RCV001201351 RCV002399438 RCV003451042

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

Reviewed By Expert Panel

CA006231

rs_63750193

4 SubmittersRCV000075292 RCV000570739 RCV003451045 RCV001212034

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

9 SubmittersRCV000075300 RCV000214110 RCV000629693 RCV001353428 RCV003451048

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

SNV
Germline

Chr3:37042267

Likely pathogenic

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

Reviewed By Expert Panel

CA006313

rs_267607845

5 SubmittersRCV001854292 RCV000075301 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

4 SubmittersRCV000075308 RCV000791445 RCV002399443 RCV003455990

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

SNV
Germline

Chr3:37042272

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA006355

rs_63751081

2 SubmittersRCV000075309 RCV002399444

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

Reviewed By Expert Panel

CA006391

rs_63751460

6 SubmittersRCV000075313 RCV001192578 RCV001240104 RCV001310198 RCV002408574 RCV003451051

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

Reviewed By Expert Panel

CA006527

rs_267607853

9 SubmittersRCV000075322 RCV000574302 RCV001250003 RCV001579372 RCV003451053 RCV002514341

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
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA006540

rs_267607853

7 SubmittersRCV000075324 RCV000576509 RCV000685725 RCV002408577 RCV001567027

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

Reviewed By Expert Panel

CA006555

rs_267607856

3 SubmittersRCV000075326 RCV000797048 RCV003451055

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

Reviewed By Expert Panel

CA006570

rs_267607850

5 SubmittersRCV000075328 RCV002279946 RCV001012888 RCV003451056 RCV001201385

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
Colon cancer
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Breast and/or ovarian cancer
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
MLH1-related disorder

Reviewed By Expert Panel

CA006585

rs_63751657

19 SubmittersRCV000075331 RCV000132025 RCV000202231 RCV000524246 RCV000662481 RCV001580146 RCV001553748 RCV001804815 RCV003492410 RCV002483122 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
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA006625

rs_267607852

5 SubmittersRCV000075335 RCV000506870 RCV001386351 RCV003451058 RCV002399446

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

Reviewed By Expert Panel

CA006836

rs_63750016

2 SubmittersRCV000075360 RCV003451065

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
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA006929

rs_63750604

9 SubmittersRCV000075365 RCV000479277 RCV000565193 RCV001354093 RCV003153348 RCV003451068 RCV003492411

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

SNV
Germline

Chr3:37047597

Pathogenic

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

Reviewed By Expert Panel

CA006984

rs_63750386

4 SubmittersRCV000075370 RCV000985779 RCV002255277 RCV003451069

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

20 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
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA007410

rs_267607867

4 SubmittersRCV000075404 RCV000541555 RCV003451077 RCV002408583

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

7 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
Hereditary nonpolyposis colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA007444

rs_63751632

15 SubmittersRCV000075409 RCV000498248 RCV000524256 RCV001193961 RCV000605751 RCV001013527

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

SNV
Germline

Chr3:37048515

Likely pathogenic

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

Reviewed By Expert Panel

CA007469

rs_267607871

12 SubmittersRCV000075411 RCV000487325 RCV000524638 RCV000570210 RCV000662785 RCV000763104 RCV001844029

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

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

Reviewed By Expert Panel

CA007602

rs_63749792

7 SubmittersRCV000075424 RCV000569430 RCV000791363 RCV001193959 RCV001354000 RCV002223786 RCV002291271

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

Criteria Provided
Multiple Submitters
No Conflicts

CA007611

rs_267607875

4 SubmittersRCV000075425 RCV000821758 RCV002408588 RCV003451083

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
Choreoathetosis
Aqueductal stenosis
Global developmental delay
Lynch syndrome
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary breast ovarian cancer syndrome
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA007619

rs_63750952

17 SubmittersRCV000075426 RCV000217492 RCV000513562 RCV000490571 RCV000584818 RCV000708912 RCV001262297 RCV002288569 RCV004760365 RCV004748556

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

SNV
Germline

Chr3:37048563

Likely pathogenic

Lynch syndrome 1
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

Reviewed By Expert Panel

CA007716

rs_63750610

8 SubmittersRCV000075433 RCV000221413 RCV000477957 RCV001269952 RCV000812087 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
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA007760

rs_63751202

4 SubmittersRCV000075437 RCV001203288 RCV002415523 RCV003451086

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

Reviewed By Expert Panel

CA007789

rs_63750726

10 SubmittersRCV000075439 RCV000215855 RCV001201909 RCV001554328 RCV002415524 RCV002463635 RCV004724792

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

14 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

Criteria Provided
Conflicting Classifications

CA007891

rs_63749900

10 SubmittersRCV000121365 RCV000568527 RCV000656865 RCV001081501 RCV003997120

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

Reviewed By Expert Panel

CA007900

rs_63749900

5 SubmittersRCV000075447 RCV001064800 RCV002415525 RCV003237435 RCV003451088

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

SNV
Germline

Chr3:37048596

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA007908

rs_63749900

3 SubmittersRCV000075448 RCV000572238

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

SNV
Germline

Chr3:37048604

Likely pathogenic

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

Reviewed By Expert Panel

CA007926

rs_587778964

6 SubmittersRCV000075450 RCV000524263 RCV000780422 RCV001013906 RCV003451089

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

Reviewed By Expert Panel

CA007969

rs_267607879

5 SubmittersRCV000075456 RCV001054272 RCV003451090 RCV004696684 RCV004943744

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

Criteria Provided
Multiple Submitters
No Conflicts

CA007990

rs_267607878

4 SubmittersRCV000075459 RCV001040247 RCV002415527 RCV003451091

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

Reviewed By Expert Panel

CA008052

rs_267607884

5 SubmittersRCV000075467 RCV000985780 RCV001013970 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
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Carcinoma of colon

Reviewed By Expert Panel

CA008104

rs_63750206

23 SubmittersRCV000075474 RCV000128871 RCV000202032 RCV000524266 RCV000662719 RCV001249945 RCV001290649 RCV001310195 RCV001353779

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

Reviewed By Expert Panel

CA008127

rs_587778967

4 SubmittersRCV000075477 RCV000629832 RCV002415530 RCV003477467

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

Reviewed By Expert Panel

CA008195

rs_63750663

4 SubmittersRCV000075483 RCV001249947 RCV002415532 RCV003451094

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

SNV
Germline

Chr3:37048941

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008222

rs_63750242

5 SubmittersRCV000075485 RCV000216198 RCV000987189 RCV000695668 RCV000985781

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

SNV
Germline

Chr3:37048949

Pathogenic

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

Reviewed By Expert Panel

CA008258

rs_587778971

6 SubmittersRCV000075489 RCV000529563 RCV000507295 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

7 SubmittersRCV000075490 RCV000215088 RCV000791351 RCV001353998 RCV003451096

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

SNV
Germline

Chr3:37048952

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008274

rs_63750809

13 SubmittersRCV000411388 RCV000483931 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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA008289

rs_63749867

6 SubmittersRCV000075493 RCV000573665 RCV000524268 RCV003451097

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

SNV
Germline/somatic

Chr3:37048954

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008297

rs_63749867

8 SubmittersRCV000075494 RCV000662499 RCV000567661 RCV000541158 RCV001711130

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

SNV
Germline

Chr3:37048962

Likely pathogenic

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

Reviewed By Expert Panel

CA008321

rs_587778972

7 SubmittersRCV000075497 RCV000589365 RCV000790627 RCV001014231 RCV001355274 RCV001209526 RCV003451098

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

SNV
Germline

Chr3:37048973

Pathogenic

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

Reviewed By Expert Panel

CA008336

rs_63751275

23 SubmittersRCV000075499 RCV000215428 RCV000411954 RCV000481137 RCV000524272 RCV000763106 RCV001093679 RCV001356525 RCV003915039

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

Reviewed By Expert Panel

CA008419

rs_267607718

10 SubmittersRCV000075505 RCV000128866 RCV000202020 RCV000627707 RCV003451099

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

Reviewed By Expert Panel

CA008435

rs_267607722

6 SubmittersRCV000075508 RCV000507560 RCV001000153 RCV001014311 RCV001210840 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

Reviewed By Expert Panel

CA008505

rs_267607717

4 SubmittersRCV000075514 RCV000629825 RCV002415535 RCV003451100

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

SNV
Germline

Chr3:37000953

Pathogenic

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

Reviewed By Expert Panel

CA008517

rs_267607716

3 SubmittersRCV000075516 RCV002415536 RCV003137610

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

Reviewed By Expert Panel

CA008537

rs_63749995

6 SubmittersRCV000075523 RCV001059462 RCV002415537 RCV003455995

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
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA008607

rs_63750114

7 SubmittersRCV000075528 RCV001854297 RCV003451104 RCV003480053 RCV002415540

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

Reviewed By Expert Panel

CA008626

rs_267607888

6 SubmittersRCV000075529 RCV000202158 RCV001380413 RCV002415541

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

Reviewed By Expert Panel

CA008661

rs_63750603

8 SubmittersRCV000075534 RCV000694604 RCV001014446 RCV001093697 RCV001549279 RCV003477468 RCV002288570

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

Reviewed By Expert Panel

CA008714

rs_267607889

3 SubmittersRCV000075540 RCV002415543 RCV003451106

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

Reviewed By Expert Panel

CA008833

rs_63750561

11 SubmittersRCV000075550 RCV000202047 RCV000686456 RCV000581002 RCV001310200 RCV003451108

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

SNV
Germline/somatic

Chr3:37050518

Pathogenic

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

Reviewed By Expert Panel

CA008842

rs_63750499

5 SubmittersRCV000075551 RCV001249996 RCV002415546 RCV003451109 RCV004700376

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
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Reviewed By Expert Panel

CA008850

rs_63751022

9 SubmittersRCV000075553 RCV000144606 RCV000165669 RCV001044497 RCV003451110 RCV002280100

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

SNV
Germline

Chr3:37050535

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Muir-Torré syndrome

Reviewed By Expert Panel

CA008900

rs_587778983

3 SubmittersRCV000075557 RCV000694232 RCV002247469

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

Criteria Provided
Conflicting Classifications

CA009007

rs_566928243

16 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

5 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

Reviewed By Expert Panel

CA009197

rs_267607894

12 SubmittersRCV000075583 RCV000216146 RCV000478074 RCV000627694 RCV001355258 RCV001823108 RCV004724793

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

SNV
Germline

Chr3:37000976

Pathogenic

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

Reviewed By Expert Panel

CA009324

rs_63749859

5 SubmittersRCV000075596 RCV000220766 RCV001854300 RCV001192575 RCV001358424

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

SNV
Germline

Chr3:37000977

Pathogenic

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

Reviewed By Expert Panel

CA009334

rs_63750437

11 SubmittersRCV000075598 RCV000791362 RCV000562335 RCV001262551 RCV003477469

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

14 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
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Condition: not provided

Reviewed By Expert Panel

CA009423

rs_63750005

8 SubmittersRCV000075604 RCV000222555 RCV000659867 RCV000630024 RCV001778703 RCV003477470

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

SNV
Germline

Chr3:37000997

Likely pathogenic

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

Reviewed By Expert Panel

CA009442

rs_63750641

7 SubmittersRCV000075606 RCV001269582 RCV001353981 RCV002433575 RCV001201354 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

6 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.299G>C (p.Arg100Pro)

SNV
Germline

Chr3:37001046

Pathogenic

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

Reviewed By Expert Panel

CA009587

rs_63750266

6 SubmittersRCV000075619 RCV001532480 RCV002281909 RCV001854301 RCV002291272

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

Reviewed By Expert Panel

CA009600

rs_111052004

5 SubmittersRCV000075621 RCV001800370 RCV002433577 RCV002288572 RCV003593883

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

Reviewed By Expert Panel

CA009611

rs_267607726

6 SubmittersRCV000075623 RCV000486320 RCV000502831 RCV001211883 RCV003451125 RCV003162483

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

Reviewed By Expert Panel

CA009617

rs_267607727

4 SubmittersRCV000075624 RCV000481030 RCV000568721 RCV003451126

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
Colorectal cancer, hereditary nonpolyposis, type 2
Gastric cancer
Condition: not provided

Reviewed By Expert Panel

CA009647

rs_267607734

6 SubmittersRCV000075628 RCV000544543 RCV002444531 RCV003451128 RCV003162484 RCV003237436

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

SNV
Germline

Chr3:37001058

Pathogenic

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

Reviewed By Expert Panel

CA009684

rs_267607735

9 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

4 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

Reviewed By Expert Panel

CA009732

rs_267607736

4 SubmittersRCV000075641 RCV000478493 RCV002319436 RCV003451131

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

5 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
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
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
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA009864

rs_63750781

7 SubmittersRCV000075665 RCV000202256 RCV000569088 RCV000622257

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

Criteria Provided
Conflicting Classifications

CA009965

rs_200076893

10 SubmittersRCV000217922 RCV000410157 RCV000524295 RCV000571582 RCV003149739 RCV003997129

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

Reviewed By Expert Panel

CA010040

rs_267607745

8 SubmittersRCV000075679 RCV000524296 RCV000486012 RCV001021188 RCV001249909 RCV001353869 RCV003451139

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

SNV
Germline

Chr3:37004476

Pathogenic

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

Reviewed By Expert Panel

CA010049

rs_267607742

5 SubmittersRCV000075680 RCV002354258 RCV003451140 RCV001215653

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

Reviewed By Expert Panel

CA010057

rs_267607742

6 SubmittersRCV000075681 RCV001356725 RCV002354259 RCV003451141

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

4 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

Reviewed By Expert Panel

CA010150

rs_63750866

1 SubmittersRCV000075687

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

Reviewed By Expert Panel

CA010246

rs_63751124

3 SubmittersRCV000075698 RCV003162485 RCV003451146

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
Hereditary nonpolyposis colon cancer
Condition: not provided

Reviewed By Expert Panel

CA010267

rs_72481822

6 SubmittersRCV000075700 RCV000215403 RCV000554881 RCV001293607 RCV001354275

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

SNV
Germline

Chr3:37007046

Pathogenic

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

Reviewed By Expert Panel

CA010388

rs_63749820

4 SubmittersRCV000075706 RCV000551153 RCV004019104 RCV002326788

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

SNV
Germline

Chr3:37007055

Pathogenic

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

Reviewed By Expert Panel

CA010427

rs_63751302

3 SubmittersRCV000075708 RCV003162486 RCV003451148

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

SNV
Germline

Chr3:37007064

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

CA010483

rs_267607750

8 SubmittersRCV000075712 RCV000160522 RCV000704046 RCV001022649 RCV000576794

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

Reviewed By Expert Panel

CA010560

rs_267607749

10 SubmittersRCV000075719 RCV000480337 RCV000524301 RCV000565961 RCV001356457 RCV003452739

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

SNV
Germline

Chr3:37008813

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA010579

rs_193922370

2 SubmittersRCV000075720 RCV002336223

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

Reviewed By Expert Panel

CA010624

rs_63750891

3 SubmittersRCV000075730 RCV003452740 RCV004629149

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

Criteria Provided
Conflicting Classifications

CA010656

rs_63749924

8 SubmittersRCV000130760 RCV000524302 RCV000522486 RCV003997131 RCV004748558

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.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

Criteria Provided
Conflicting Classifications

CA010855

rs_63750102

12 SubmittersRCV000131749 RCV000212519 RCV000411648 RCV000524305 RCV003320556 RCV003997133

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

SNV
Germline

Chr3:37008904

Pathogenic

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

Reviewed By Expert Panel

CA010872

rs_63750211

4 SubmittersRCV000075747 RCV000684818 RCV000570187 RCV001353413

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
Lynch-like syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA010914

rs_267607760

15 SubmittersRCV000075749 RCV000215515 RCV000564669 RCV000609647 RCV001249949 RCV001202202 RCV001804822

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

SNV
Germline

Chr3:37008905

Pathogenic

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

Reviewed By Expert Panel

CA010950

rs_587779021

4 SubmittersRCV000075753 RCV001854303 RCV003452745 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 cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA010963

rs_587779022

6 SubmittersRCV000075754 RCV000482173 RCV001854304 RCV003162487 RCV003452746 RCV002271399

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

Reviewed By Expert Panel

CA011003

rs_63750515

5 SubmittersRCV000075761 RCV000218149 RCV003452749 RCV001385098 RCV002345382

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

Reviewed By Expert Panel

CA011026

rs_63750648

5 SubmittersRCV000075763 RCV000162610 RCV000483320 RCV000680175 RCV000791372

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

SNV
Germline

Chr3:37011852

Pathogenic

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

Reviewed By Expert Panel

CA011062

rs_63751480

5 SubmittersRCV000075767 RCV001854305 RCV002354263 RCV003452750 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
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
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
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
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
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA011189

rs_267607767

13 SubmittersRCV000075780 RCV000160526 RCV000212522 RCV000576331 RCV000524306 RCV001804823

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

SNV
Germline

Chr3:36993552

Pathogenic

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

Reviewed By Expert Panel

CA011228

rs_587779029

4 SubmittersRCV000075784 RCV003456001 RCV004998189 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

8 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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
MLH1-related disorder
Carcinoma of colon
not specified
Hereditary breast ovarian cancer syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA011361

rs_4986984

15 SubmittersRCV000115483 RCV000590255 RCV001079587 RCV000987154 RCV003944989 RCV001354844 RCV000212524 RCV001030563 RCV001093666

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

Reviewed By Expert Panel

CA011528

rs_267607778

8 SubmittersRCV000075803 RCV000480845 RCV001034678 RCV001193208 RCV003452758 RCV002362711

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

Reviewed By Expert Panel

CA011545

rs_267607780

11 SubmittersRCV000075806 RCV000201996 RCV000222833 RCV000812851 RCV001353985 RCV003466960

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

Reviewed By Expert Panel

CA011583

rs_63751711

21 SubmittersRCV000075809 RCV000132197 RCV000202049 RCV000410542 RCV000524312 RCV001093688 RCV001250009 RCV003162489 RCV003128139

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

Reviewed By Expert Panel

CA011592

rs_63751711

14 SubmittersRCV000075810 RCV000160555 RCV000524313 RCV000709741 RCV000708610 RCV001249952

NM_000249.4(MLH1):c.678-1G>C

SNV
Germline

Chr3:37014431

Pathogenic

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

Reviewed By Expert Panel

CA011606

rs_267607784

4 SubmittersRCV000075813 RCV002362712 RCV003593888 RCV003452760

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

Reviewed By Expert Panel

CA011623

rs_587779035

5 SubmittersRCV000075815 RCV000569823 RCV003452761 RCV001380125

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 colon cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA011669

rs_63750823

9 SubmittersRCV000075822 RCV000160551 RCV000772326 RCV001290676 RCV001258081 RCV000811317

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
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome 1

Reviewed By Expert Panel

CA011836

rs_63750303

8 SubmittersRCV000075830 RCV000573119 RCV001210008 RCV001354491 RCV003466961 RCV001804824

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

Reviewed By Expert Panel

CA011979

rs_63749827

9 SubmittersRCV000075838 RCV001258082 RCV000520796 RCV002399450 RCV001854309

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
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012012

rs_63750642

8 SubmittersRCV000130511 RCV000479043 RCV000705556 RCV004566932 RCV004806052 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

3 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

Reviewed By Expert Panel

CA012109

rs_267607789

18 SubmittersRCV000075847 RCV000214767 RCV000524316 RCV000562275 RCV001249934 RCV001310196 RCV001646997 RCV003128140 RCV003452766

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

Reviewed By Expert Panel

CA012153

rs_267607790

5 SubmittersRCV000075850 RCV002291498 RCV001026933 RCV001382874

NM_000249.4(MLH1):c.790+2T>C

SNV
Germline

Chr3:37014546

Pathogenic

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

Reviewed By Expert Panel

CA012162

rs_267607790

6 SubmittersRCV000075851 RCV000812444 RCV002415547 RCV003452768 RCV001353965

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.791-1G>C

SNV
Germline

Chr3:37017505

Pathogenic

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

Reviewed By Expert Panel

CA012277

rs_267607795

7 SubmittersRCV000075860 RCV001183311 RCV001388082 RCV002247470 RCV003452771 RCV001723644

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

8 SubmittersRCV000075863 RCV000115486 RCV000212525 RCV000543128 RCV003452773

NM_000249.4(MLH1):c.791-5T>G

SNV
Germline

Chr3:37017501

Pathogenic

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

Reviewed By Expert Panel

CA012320

rs_267607788

7 SubmittersRCV000075865 RCV000579445 RCV001262553 RCV001379645 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
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Carcinoma of colon
Colorectal cancer, hereditary nonpolyposis, type 2

Reviewed By Expert Panel

CA012384

rs_63751194

9 SubmittersRCV000075871 RCV000202126 RCV000567864 RCV001070683 RCV001249943 RCV001353449 RCV003452775

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

Reviewed By Expert Panel

CA012616

rs_63750889

1 SubmittersRCV000075886

NM_000249.4(MLH1):c.86C>G (p.Ala29Gly)

SNV
Germline

Chr3:36993633

Pathogenic

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

Reviewed By Expert Panel

CA012745

rs_63750216

5 SubmittersRCV000075896 RCV000218998 RCV003452780 RCV003593891 RCV001284650

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

Criteria Provided
Multiple Submitters
No Conflicts

CA012754

rs_63750517

3 SubmittersRCV000630228 RCV002371909 RCV003235034

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

Reviewed By Expert Panel

CA012784

rs_63751707

7 SubmittersRCV000075900 RCV000574927 RCV000759814 RCV000818945 RCV003452781 RCV004562243

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

Reviewed By Expert Panel

CA012793

rs_63751598

5 SubmittersRCV000075901 RCV001046252 RCV001353502 RCV002371910

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

7 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
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA012866

rs_63750144

4 SubmittersRCV000075908 RCV000215143 RCV003452784 RCV001220885

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

Reviewed By Expert Panel

CA012922

rs_267607805

9 SubmittersRCV000075914 RCV000132040 RCV000481722 RCV000627716 RCV003452786

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

2 SubmittersRCV000075927 RCV002371911

NM_000249.4(MLH1):c.901C>T (p.Gln301Ter)

SNV
Germline/somatic

Chr3:37020326

Pathogenic

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

Reviewed By Expert Panel

CA013005

rs_63750489

8 SubmittersRCV000075928 RCV001701489 RCV002287363 RCV002371912 RCV003452788 RCV001223223

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

10 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
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Malignant tumor of breast
Hereditary cancer
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA013293

rs_63750796

21 SubmittersRCV000075945 RCV000115489 RCV000144597 RCV000212528 RCV000410221 RCV000524325 RCV000656859 RCV000764484 RCV001357697 RCV003492419 RCV003915040

NM_000249.4(MLH1):c.955G>T (p.Glu319Ter)

SNV
Germline

Chr3:37020380

Pathogenic

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

Reviewed By Expert Panel

CA013306

rs_63750796

6 SubmittersRCV000075946 RCV000578913 RCV001034666 RCV001019484 RCV000656559

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

NC_000002.12:g.47402967G>C

SNV
Germline

Chr2:47402967

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA021836

rs_138068023

5 SubmittersRCV000165718 RCV000409105 RCV001567568 RCV002055083 RCV004734625

NM_000251.3(MSH2):c.1000A>T (p.Lys334Ter)

SNV
Germline

Chr2:47416353

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA016794

rs_587779063

2 SubmittersRCV000075993 RCV002321565

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

Reviewed By Expert Panel

CA016831

rs_63750778

7 SubmittersRCV000075997 RCV000153512 RCV000215536 RCV001215910 RCV003452794 RCV004537286

NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)

SNV
Germline

Chr2:47416365

Pathogenic/Likely pathogenic

Carcinoma of colon
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA016843

rs_63751004

5 SubmittersRCV000500876 RCV002228181 RCV002345383 RCV003452795

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

5 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
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA016940

rs_63750396

8 SubmittersRCV000076005 RCV000202230 RCV000492045 RCV001193248 RCV001258035 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
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary nonpolyposis colon cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016975

rs_267607939

16 SubmittersRCV000128932 RCV000148635 RCV000588936 RCV000764423 RCV000986664 RCV001085377 RCV001844030 RCV002279934 RCV004760366

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
Condition: not provided

Reviewed By Expert Panel

CA016981

rs_587779067

7 SubmittersRCV000076008 RCV000490568 RCV002399451 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

Reviewed By Expert Panel

CA017072

rs_267607940

9 SubmittersRCV000076014 RCV000132414 RCV000485147 RCV000541273 RCV000763489 RCV003452798

NM_000251.3(MSH2):c.1076+1G>T

SNV
Germline/somatic

Chr2:47416430

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA017079

rs_267607940

5 SubmittersRCV000076015 RCV000491884 RCV003452799 RCV003593893

NM_000251.3(MSH2):c.1077-1G>C

SNV
Germline

Chr2:47429741

Likely pathogenic

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

Reviewed By Expert Panel

CA017136

rs_267607944

7 SubmittersRCV000076019 RCV000491682 RCV003452800 RCV001284005

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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
MSH2-related disorder

Reviewed By Expert Panel

CA017174

rs_267607943

6 SubmittersRCV000076024 RCV000529751 RCV000491149 RCV001811351 RCV003452802 RCV004724794

NM_000251.3(MSH2):c.1077-2A>T

SNV
Germline

Chr2:47429740

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA017180

rs_267607943

4 SubmittersRCV000076025 RCV002415552 RCV003452803 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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017221

rs_587779072

4 SubmittersRCV000574719 RCV000629732 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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA017309

rs_63750267

6 SubmittersRCV000076045 RCV001232220 RCV000583364 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

Criteria Provided
Conflicting Classifications

CA017350

rs_267607947

9 SubmittersRCV000487066 RCV000568561 RCV000663061 RCV000703497 RCV003149744 RCV003997141

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
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Lynch-like syndrome
Rhabdomyosarcoma
MSH2-related disorder

Reviewed By Expert Panel

CA017356

rs_63749849

23 SubmittersRCV000076049 RCV000202261 RCV000221364 RCV000524330 RCV000576748 RCV000763490 RCV001192613 RCV001249954 RCV001257542 RCV004537287

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

Criteria Provided
Conflicting Classifications

CA017372

rs_564736113

5 SubmittersRCV000794953 RCV001010013 RCV001538801 RCV003997142

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

24 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 cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA017437

rs_63750611

5 SubmittersRCV000076055 RCV001353639 RCV002336224 RCV003452805 RCV001385673

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

Reviewed By Expert Panel

CA017512

rs_63751271

3 SubmittersRCV000076063 RCV002354267

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
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch 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.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

Criteria Provided
Conflicting Classifications

CA017727

rs_63751650

16 SubmittersRCV000115500 RCV000202073 RCV000487506 RCV000735971 RCV001082316 RCV001357605 RCV004537288 RCV004799181

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

Reviewed By Expert Panel

CA017756

rs_267607950

8 SubmittersRCV000076088 RCV000491760 RCV000707663 RCV002498365 RCV003452816 RCV003237437 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
Lynch syndrome 1

Reviewed By Expert Panel

CA017815

rs_267607948

4 SubmittersRCV000076097 RCV002371915 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
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA017836

rs_267607949

3 SubmittersRCV000076100 RCV002371916 RCV003452819

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
Lynch syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA017883

rs_63751693

10 SubmittersRCV000076112 RCV000214917 RCV000627701 RCV001823109 RCV001353690

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
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Sarcoma
Muir-Torré syndrome
Lynch syndrome
MSH2-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA017905

rs_17217723

18 SubmittersRCV000131211 RCV000212578 RCV000409784 RCV000524339 RCV000656872 RCV000764419 RCV001262887 RCV003330424 RCV004537289 RCV004700381

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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Breast and/or ovarian cancer
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA018000

rs_587779086

16 SubmittersRCV000478413 RCV000446874 RCV000524340 RCV001001300 RCV001143792 RCV003492421 RCV003997145 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

4 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
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA018102

rs_63750521

5 SubmittersRCV000076136 RCV000160582 RCV003452827 RCV002381387

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
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome

Reviewed By Expert Panel

CA018142

rs_267607957

8 SubmittersRCV000076139 RCV001723646 RCV003452829 RCV002390223 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
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA018225

rs_587779089

4 SubmittersRCV000076152 RCV001011383 RCV001355815 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 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018254

rs_63751403

8 SubmittersRCV000148630 RCV000218562 RCV000482094 RCV000627720 RCV003466964 RCV003997147

NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)

SNV
Germline

Chr2:47403333

Pathogenic

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

Reviewed By Expert Panel

CA018272

rs_63750615

10 SubmittersRCV000076158 RCV000506167 RCV000582377 RCV000662482 RCV000537461 RCV001354006 RCV001011543

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
Hereditary cancer-predisposing syndrome
MSH2-related disorder
Condition: not provided

Reviewed By Expert Panel

CA018326

rs_63749947

7 SubmittersRCV000076164 RCV001064013 RCV002390225 RCV004797777 RCV001269568

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
Breast and/or ovarian cancer
not specified
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA018356

rs_35107951

15 SubmittersRCV000076170 RCV000131869 RCV000411837 RCV000524343 RCV000590052 RCV001798266 RCV001797621 RCV004734629

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
Lynch syndrome 1
Condition: not provided
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 RCV000412350 RCV000486935 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

8 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.1552C>T (p.Gln518Ter)

SNV
Germline

Chr2:47466699

Pathogenic

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

Reviewed By Expert Panel

CA018597

rs_63750780

9 SubmittersRCV000076192 RCV000657577 RCV000701635 RCV003452840 RCV001187045

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

16 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

Criteria Provided
Conflicting Classifications

CA018706

rs_63750029

11 SubmittersRCV000076204 RCV000410514 RCV000491263 RCV000524349 RCV000588411 RCV001175346

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
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018790

rs_63750538

8 SubmittersRCV000490983 RCV000479671 RCV000524350 RCV003466965 RCV003317077 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

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
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA018814

rs_63751656

5 SubmittersRCV000076214 RCV000491028 RCV000985797 RCV003452846 RCV003593895

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
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA018837

rs_267607969

7 SubmittersRCV000076216 RCV000627711 RCV000986675 RCV002399455 RCV002465505

NM_000251.3(MSH2):c.1661+1G>T

SNV
Germline/somatic

Chr2:47466809

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA018841

rs_267607969

7 SubmittersRCV000076217 RCV000491252 RCV001070711 RCV000986676 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
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA018877

rs_63750597

5 SubmittersRCV000076221 RCV000491785 RCV001357409 RCV003452847 RCV003593896

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

Reviewed By Expert Panel

CA018892

rs_267607970

7 SubmittersRCV000001836 RCV000076224 RCV000491087 RCV001249923 RCV003452848 RCV001239294

NM_000251.3(MSH2):c.1662-2A>G

SNV
Germline

Chr2:47470963

Likely pathogenic

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

Reviewed By Expert Panel

CA018902

rs_267607971

4 SubmittersRCV000076225 RCV000560516 RCV002399456 RCV001526860

NM_000251.3(MSH2):c.166G>T (p.Glu56Ter)

SNV
Germline

Chr2:47403357

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA018959

rs_587779102

3 SubmittersRCV000076238 RCV003452849 RCV002399458

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

Criteria Provided
Conflicting Classifications

CA018988

rs_63750328

13 SubmittersRCV000410128 RCV000484663 RCV000524354 RCV000568086 RCV001198848 RCV003997152

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
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019047

rs_63751149

4 SubmittersRCV000076250 RCV001854316 RCV004639136 RCV004786357

NM_000251.3(MSH2):c.1720C>T (p.Gln574Ter)

SNV
Germline

Chr2:47471023

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019108

rs_63751298

4 SubmittersRCV000076257 RCV002399460 RCV003452853

NM_000251.3(MSH2):c.1738G>T (p.Glu580Ter)

SNV
Germline/somatic

Chr2:47471041

Pathogenic

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

Reviewed By Expert Panel

CA019142

rs_63751411

9 SubmittersRCV000076261 RCV000491635 RCV000483706 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

Reviewed By Expert Panel

CA019206

rs_587779110

12 SubmittersRCV000076272 RCV000481985 RCV000491462 RCV000546853 RCV003452856 RCV003993791

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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Condition: not provided
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019271

rs_371614039

16 SubmittersRCV000160595 RCV000212609 RCV000524360 RCV000662460 RCV000656879 RCV001357833 RCV003997153

NM_000251.3(MSH2):c.1777C>T (p.Gln593Ter)

SNV
Germline/somatic

Chr2:47475042

Pathogenic

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

Reviewed By Expert Panel

CA019278

rs_63750200

7 SubmittersRCV000076282 RCV000540595 RCV001249920 RCV001269629 RCV003452857 RCV002399463

NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly)

SNV
Germline

Chr2:47475073

Likely pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA019354

rs_267607985

4 SubmittersRCV000076292 RCV003460714 RCV001854317 RCV002408595

NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)

SNV
Germline

Chr2:47403372

Pathogenic

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

Reviewed By Expert Panel

CA019387

rs_63750951

11 SubmittersRCV000076295 RCV000219541 RCV000202086 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

Reviewed By Expert Panel

CA019418

rs_63750493

8 SubmittersRCV000076300 RCV000202183 RCV000491040 RCV000629963 RCV001357329 RCV003452860

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
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Lynch-like syndrome
Hereditary nonpolyposis colon cancer
Breast carcinoma

Reviewed By Expert Panel

CA019461

rs_63750508

18 SubmittersRCV000076305 RCV000414448 RCV000491286 RCV000524364 RCV000602838 RCV000763492 RCV001249915 RCV001328039 RCV001650893

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

5 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

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

Reviewed By Expert Panel

CA019616

rs_63751317

5 SubmittersRCV000076327 RCV001069113 RCV001013869 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
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA019708

rs_267607986

3 SubmittersRCV000076338 RCV003162495 RCV003452872

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

Reviewed By Expert Panel

CA019751

rs_267607991

6 SubmittersRCV000076349 RCV000774579 RCV001420710 RCV003452877 RCV004998192

NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp)

SNV
Germline/somatic

Chr2:47476367

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA019774

rs_63751640

4 SubmittersRCV000076354 RCV001854322 RCV002415559 RCV003452878

NM_000251.3(MSH2):c.2006G>T (p.Gly669Val)

SNV
Germline

Chr2:47476367

Pathogenic

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

Reviewed By Expert Panel

CA019785

rs_63751640

7 SubmittersRCV000076356 RCV000491447 RCV000692084 RCV000581599 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
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
not specified
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA019790

rs_41294982

9 SubmittersRCV000220086 RCV000483333 RCV000524371 RCV000765672 RCV002265597 RCV003389040 RCV003997156 RCV004734631

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

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
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA019811

rs_587779127

4 SubmittersRCV000759107 RCV003452880 RCV003758687 RCV004019108

NM_000251.3(MSH2):c.2020G>C (p.Gly674Arg)

SNV
Germline

Chr2:47476381

Likely pathogenic

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

Reviewed By Expert Panel

CA019825

rs_63750234

5 SubmittersRCV000076362 RCV001723648 RCV003452881 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
not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Reviewed By Expert Panel

CA019900

rs_267607995

9 SubmittersRCV000076370 RCV000202225 RCV000132039 RCV000524373 RCV001588897 RCV001264415 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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Carcinoma of colon
Lynch syndrome 1

Reviewed By Expert Panel

CA019937

rs_63749993

6 SubmittersRCV000076376 RCV000491088 RCV000524375 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

Reviewed By Expert Panel

CA019969

rs_63751432

3 SubmittersRCV000076382 RCV001355702 RCV002415563

NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu)

SNV
Germline

Chr2:47476448

Pathogenic

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

Reviewed By Expert Panel

CA019979

rs_267607994

6 SubmittersRCV000076383 RCV000501546 RCV000492029 RCV001034643 RCV003452886

NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg)

SNV
Germline

Chr2:47476450

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
MSH2-related disorder

Reviewed By Expert Panel

CA019984

rs_63750961

5 SubmittersRCV000076384 RCV002228184 RCV002415564 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

Reviewed By Expert Panel

CA020085

rs_267607917

7 SubmittersRCV000076395 RCV001699196 RCV002415565 RCV003452891 RCV004767060

NM_000251.3(MSH2):c.212-478T>G

SNV
Germline

Chr2:47407923

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA020095

rs_587779138

2 SubmittersRCV000076396 RCV002415566

NM_000251.3(MSH2):c.2123T>A (p.Ile708Asn)

SNV
Germline

Chr2:47476484

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

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
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
not specified
Lynch-like syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020107

rs_63750636

25 SubmittersRCV000076405 RCV000129341 RCV000202062 RCV000524377 RCV000763494 RCV001000186 RCV001249926 RCV002272055

NM_000251.3(MSH2):c.2139G>T (p.Gly713=)

SNV
Germline

Chr2:47476500

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020122

rs_63750003

6 SubmittersRCV000630364 RCV000662860 RCV001014480 RCV003997158

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
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020132

rs_63751224

5 SubmittersRCV000535935 RCV000574384 RCV004537294 RCV003997159

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
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020163

rs_63750794

7 SubmittersRCV000802176 RCV002465506 RCV003320558 RCV003584545

NM_000251.3(MSH2):c.2191G>T (p.Glu731Ter)

SNV
Germline

Chr2:47476552

Pathogenic

Lynch syndrome
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA020196

rs_63749802

3 SubmittersRCV000076417 RCV003452893 RCV002415567

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

Reviewed By Expert Panel

CA020243

rs_267608002

6 SubmittersRCV000076423 RCV000490900 RCV000524382 RCV003452895

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020271

rs_267608006

6 SubmittersRCV000491555 RCV000478566 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
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA020302

rs_63751155

6 SubmittersRCV000076434 RCV000236386 RCV001062167 RCV003452898 RCV004649067

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

Lynch syndrome
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

14 SubmittersRCV000076457 RCV000217041 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.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

16 SubmittersRCV000160651 RCV000212619 RCV000410686 RCV000724817 RCV001083867 RCV001354589 RCV004537295

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 colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Reviewed By Expert Panel

CA020589

rs_63751018

4 SubmittersRCV000076473 RCV002298462 RCV001388595 RCV003452910

NM_000251.3(MSH2):c.2446C>T (p.Gln816Ter)

SNV
Germline

Chr2:47478507

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA020600

rs_63749917

4 SubmittersRCV000076476 RCV001201361 RCV001015571 RCV003452911

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

7 SubmittersRCV000076478 RCV000479442 RCV000491889 RCV000704889 RCV003452912

NM_000251.3(MSH2):c.2459-12A>G

SNV
Germline/somatic

Chr2:47480684

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020616

rs_267608012

8 SubmittersRCV000076479 RCV000160620 RCV001015604 RCV001854328 RCV003452913 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

5 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

Criteria Provided
Conflicting Classifications

CA020651

rs_41295296

14 SubmittersRCV000115519 RCV000212621 RCV000410916 RCV000656882 RCV001082618 RCV003997162 RCV004734633

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
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
Ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA020662

rs_63750027

10 SubmittersRCV000076492 RCV000166332 RCV000486446 RCV000765673 RCV000986690 RCV001354097 RCV001085048 RCV003153356 RCV004525868

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 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020666

rs_267608016

8 SubmittersRCV000216575 RCV000479296 RCV000524391 RCV001357139 RCV003466966 RCV003997163

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

Reviewed By Expert Panel

CA020692

rs_63750857

5 SubmittersRCV000076498 RCV001207810 RCV000657648 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

9 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
Condition: not provided
Lynch syndrome 1
Carcinoma of colon
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020731

rs_63750797

12 SubmittersRCV000164439 RCV000484878 RCV000541354 RCV000656884 RCV000663223 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

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

Reviewed By Expert Panel

CA020828

rs_267608019

8 SubmittersRCV000076518 RCV000506677 RCV000688047 RCV000491073 RCV002222380 RCV003452923

NM_000251.3(MSH2):c.2634+1G>T

SNV
Germline/somatic

Chr2:47480872

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch-like syndrome

Reviewed By Expert Panel

CA020831

rs_267608019

6 SubmittersRCV000076519 RCV001016179 RCV001386003 RCV003452924 RCV001250026

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

Reviewed By Expert Panel

CA020838

rs_267608017

7 SubmittersRCV000076521 RCV000491990 RCV001063481 RCV003452925

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

Reviewed By Expert Panel

CA020844

rs_63751624

6 SubmittersRCV000076523 RCV000491856 RCV000791439 RCV000519129 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

11 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

16 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

Criteria Provided
Conflicting Classifications

CA020916

rs_587779154

12 SubmittersRCV000221964 RCV000412138 RCV000552261 RCV001196697 RCV001353838 RCV003387753 RCV003997169

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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA020945

rs_587779155

5 SubmittersRCV000411744 RCV001016615 RCV000691322

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

Reviewed By Expert Panel

CA020976

rs_63751099

4 SubmittersRCV000076557 RCV000804938 RCV003452931

NM_000251.3(MSH2):c.293A>G (p.Tyr98Cys)

SNV
Germline

Chr2:47408482

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020980

rs_63750887

2 SubmittersRCV000693356 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

8 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

6 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

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

Reviewed By Expert Panel

CA021052

rs_267607924

6 SubmittersRCV000759832 RCV000076573 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.399C>T (p.Asp133=)

SNV
Germline

Chr2:47410126

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Malignant tumor of breast
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA021124

rs_61756462

10 SubmittersRCV000164131 RCV000524407 RCV000608950 RCV000663052 RCV001357112 RCV003997173 RCV004542748

NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)

SNV
Germline

Chr2:47410152

Pathogenic

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

Reviewed By Expert Panel

CA021151

rs_63750910

7 SubmittersRCV000076598 RCV000519167 RCV001071576 RCV001797622 RCV001022162 RCV003452940

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
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Breast carcinoma
Carcinoma of colon
Breast and/or ovarian cancer
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021158

rs_63750124

26 SubmittersRCV000115532 RCV000148628 RCV000212585 RCV000588226 RCV000662480 RCV000764421 RCV001085983 RCV001262752 RCV001358588 RCV001798267 RCV004528278 RCV004806057

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
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021192

rs_63751426

6 SubmittersRCV000076606 RCV000547313 RCV001250038 RCV001532993 RCV003452943 RCV002336226

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

Reviewed By Expert Panel

CA021199

rs_63750624

12 SubmittersRCV000076608 RCV000491163 RCV000524412 RCV000662882 RCV000985811 RCV001194033 RCV004546430

NM_000251.3(MSH2):c.488T>A (p.Val163Asp)

SNV
Germline

Chr2:47410215

Pathogenic

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

Reviewed By Expert Panel

CA021206

rs_63750214

6 SubmittersRCV000076610 RCV000492044 RCV003593902 RCV004566934 RCV004998195

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
Condition: not provided
Lynch syndrome 1

Reviewed By Expert Panel

CA021212

rs_63750582

7 SubmittersRCV000076612 RCV000491974 RCV001249918 RCV001293544 RCV001390798 RCV004760368 RCV003452944

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

Reviewed By Expert Panel

CA021248

rs_63750843

8 SubmittersRCV000076621 RCV000491287 RCV000236121 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

6 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

5 SubmittersRCV001353990 RCV001854331 RCV002290960 RCV002336228 RCV003997177

NM_000251.3(MSH2):c.518T>G (p.Leu173Arg)

SNV
Germline

Chr2:47410245

Pathogenic

Lynch syndrome 1
Lynch syndrome

Reviewed By Expert Panel

CA021275

rs_63750070

2 SubmittersRCV000076626 RCV000778170

NM_000251.3(MSH2):c.524T>C (p.Leu175Pro)

SNV
Germline

Chr2:47410251

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021302

rs_63751291

8 SubmittersRCV000697263 RCV001184535 RCV001731362 RCV001800375 RCV003452948 RCV004806058

NM_000251.3(MSH2):c.529G>T (p.Glu177Ter)

SNV
Germline

Chr2:47410256

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021325

rs_63750382

2 SubmittersRCV000076632 RCV002345386

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

Reviewed By Expert Panel

CA021358

rs_63750037

5 SubmittersRCV000076634 RCV000561236 RCV001781399 RCV003452950

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

Criteria Provided
Conflicting Classifications

CA021391

rs_151129360

15 SubmittersRCV000130716 RCV000202264 RCV000411418 RCV000587046 RCV001081828 RCV001798268

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

Reviewed By Expert Panel

CA021414

rs_63751444

4 SubmittersRCV000076639 RCV000822250 RCV002345387 RCV003452951

NM_000251.3(MSH2):c.577C>T (p.Gln193Ter)

SNV
Germline

Chr2:47410304

Pathogenic

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

Reviewed By Expert Panel

CA021466

rs_63751326

6 SubmittersRCV000076645 RCV000629870 RCV000490948 RCV003452952 RCV001284655

NM_000251.3(MSH2):c.592G>A (p.Glu198Lys)

SNV
Germline

Chr2:47410319

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_587779166

3 SubmittersRCV003311405 RCV003455794

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
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA021530

rs_63751136

3 SubmittersRCV000160619 RCV003452954 RCV002354269

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
Mismatch repair cancer syndrome 2
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA021638

rs_63751274

7 SubmittersRCV000076658 RCV000657646 RCV001854334 RCV003150809 RCV002362713 RCV002463636

NM_000251.3(MSH2):c.645+1G>A

SNV
Germline

Chr2:47410373

Pathogenic

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

Reviewed By Expert Panel

CA021643

rs_267607689

5 SubmittersRCV000076659 RCV000491616 RCV001854335 RCV000985815

NM_000251.3(MSH2):c.645+1G>T

SNV
Germline

Chr2:47410373

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
MSH2-related disorder

Reviewed By Expert Panel

CA021649

rs_267607689

5 SubmittersRCV000076660 RCV000220374 RCV001854336 RCV002247472 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
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021655

rs_587779168

9 SubmittersRCV000419965 RCV000491694 RCV000627695 RCV003477472 RCV003997178 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 nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

CA021710

rs_587779170

6 SubmittersRCV000076677 RCV001264589 RCV001386603 RCV001025372 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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA022108

rs_63751455

13 SubmittersRCV000131412 RCV000411200 RCV000479306 RCV000524419 RCV000781566 RCV001357533

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

4 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

6 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
not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022283

rs_267607935

9 SubmittersRCV000129148 RCV000440249 RCV000410638 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.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

Reviewed By Expert Panel

CA022450

rs_63750097

8 SubmittersRCV000076738 RCV000484173 RCV000528830 RCV001183048 RCV003452970

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
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Reviewed By Expert Panel

CA022458

rs_587779190

7 SubmittersRCV000076740 RCV000165329 RCV000763488 RCV001854340 RCV004689446 RCV003452971

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

Chr2:47414377

Pathogenic

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

Reviewed By Expert Panel

CA022518

rs_63749915

5 SubmittersRCV000076746 RCV001854341 RCV003452974 RCV002371917 RCV003144124

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

Criteria Provided
Conflicting Classifications

CA022539

rs_63751454

14 SubmittersRCV000076748 RCV000115547 RCV000148633 RCV000656876 RCV001084038 RCV001193245 RCV003492427 RCV004542749

NM_000251.3(MSH2):c.929T>C (p.Leu310Pro)

SNV
Germline

Chr2:47414405

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA022549

rs_63750640

3 SubmittersRCV000076750 RCV000491370 RCV001052685

NM_000251.3(MSH2):c.929T>G (p.Leu310Arg)

SNV
Germline

Chr2:47414405

Pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA022554

rs_63750640

3 SubmittersRCV000076751 RCV000524912 RCV000567639

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

Reviewed By Expert Panel

CA022570

rs_587779193

7 SubmittersRCV000076752 RCV000491583 RCV000816442 RCV003311677 RCV003452976

NM_000251.3(MSH2):c.942+2T>G

SNV
Germline

Chr2:47414420

Likely pathogenic

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

Reviewed By Expert Panel

CA022580

rs_587779195

6 SubmittersRCV000076754 RCV000491479 RCV001723651 RCV001050513 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

4 SubmittersRCV000076756 RCV003452978 RCV002444543

NM_000251.3(MSH2):c.943-1G>A

SNV
Germline

Chr2:47416295

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA022598

rs_12476364

4 SubmittersRCV000076757 RCV000532450 RCV003452979 RCV002371918

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

Criteria Provided
Conflicting Classifications

CA022662

rs_63750732

8 SubmittersRCV000148634 RCV000222150 RCV000412467 RCV000480555 RCV000524426 RCV003997184

NM_000251.3(MSH2):c.970C>T (p.Gln324Ter)

SNV
Germline

Chr2:47416323

Pathogenic

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

Reviewed By Expert Panel

CA022678

rs_63750502

7 SubmittersRCV000076766 RCV000201985 RCV001019659 RCV001050003 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
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022692

rs_63751107

13 SubmittersRCV000129083 RCV000236043 RCV000656871 RCV000662483 RCV000627734 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
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA022706

rs_63750630

3 SubmittersRCV000076775 RCV001554291 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

4 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
Mismatch repair cancer syndrome 1
Lynch syndrome 1
Hereditary nonpolyposis colon cancer

Reviewed By Expert Panel

CA022722

rs_63750828

16 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.1261C>T (p.Arg421Ter)

SNV
Germline

Chr7:5987504

Pathogenic

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

Reviewed By Expert Panel

CA009431

rs_587778617

16 SubmittersRCV000627692 RCV001353689 RCV000121843 RCV000076804 RCV000219846 RCV000223405 RCV000786880 RCV001255553

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

7 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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Malignant tumor of breast
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009792

rs_368516768

10 SubmittersRCV000162805 RCV000483703 RCV000524435 RCV000780617 RCV001354515 RCV003460718 RCV003997187

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

Reviewed By Expert Panel

CA009971

rs_587779324

3 SubmittersRCV000076818 RCV003320559

NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)

SNV
Germline

Chr7:5987027

Pathogenic

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

Reviewed By Expert Panel

CA010207

rs_267608169

9 SubmittersRCV000076824 RCV000129628 RCV000524446 RCV002307391 RCV000260402 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

Criteria Provided
Conflicting Classifications

CA010216

rs_63750947

11 SubmittersRCV000216706 RCV000524448 RCV001529737 RCV003997188 RCV004595912

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

Reviewed By Expert Panel

CA010345

rs_63750490

15 SubmittersRCV000076831 RCV000164595 RCV000216236 RCV000540895 RCV001258087 RCV001280569

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
Pulmonary valve insufficiency
Pulmonary arterial hypertension
Respiratory insufficiency
Hereditary nonpolyposis colon cancer
Lynch syndrome 4

Reviewed By Expert Panel

CA010460

rs_63751422

13 SubmittersRCV000076835 RCV000148733 RCV000164116 RCV000223612 RCV000524452 RCV000735282 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

Reviewed By Expert Panel

CA010519

rs_201451115

23 SubmittersRCV000076836 RCV000128864 RCV000414304 RCV000507921 RCV000627727 RCV000709754 RCV002228187 RCV002288575

NM_000535.7(PMS2):c.1A>G (p.Met1Val)

SNV
Germline

Chr7:6009019

Likely pathogenic

Lynch syndrome
Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 1
Hereditary nonpolyposis colon cancer
Mismatch repair cancer syndrome 4
PMS2-related disorder

Reviewed By Expert Panel

CA010642

rs_587779333

21 SubmittersRCV000076838 RCV000144649 RCV000160894 RCV000524456 RCV000410400 RCV000564071 RCV001293980 RCV001280543 RCV001523838 RCV003982873

NM_000535.7(PMS2):c.2007-1G>A

SNV
Germline

Chr7:5982992

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Reviewed By Expert Panel

CA010684

rs_267608170

3 SubmittersRCV000076841 RCV002415570 RCV003452989

NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)

SNV
Germline

Chr7:5982885

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA010854

rs_267608161

21 SubmittersRCV000076843 RCV000115674 RCV000144654 RCV000223542 RCV000524457 RCV004742243 RCV002298464 RCV003149756 RCV003452990

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

Reviewed By Expert Panel

CA010965

rs_267608172

16 SubmittersRCV000076844 RCV000115677 RCV000218995 RCV000409361 RCV000539044 RCV003149757 RCV004742244

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

Criteria Provided
Conflicting Classifications

CA011133

rs_587779337

14 SubmittersRCV000076849 RCV000115679 RCV000212868 RCV000524463 RCV001253062 RCV002271400 RCV003398663 RCV004764762

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

Criteria Provided
Conflicting Classifications

CA011412

rs_149202766

12 SubmittersRCV000162455 RCV000215298 RCV000524466 RCV000590372 RCV000764720 RCV003153358 RCV004742245

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
Hereditary nonpolyposis colon cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Lynch syndrome 4

Reviewed By Expert Panel

CA011500

rs_587779338

12 SubmittersRCV000076859 RCV000130249 RCV000485694 RCV000525929 RCV001193971 RCV000764719 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

16 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

Reviewed By Expert Panel

CA012564

rs_587779343

16 SubmittersRCV000076881 RCV000115701 RCV000212848 RCV000524479 RCV001799617

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 colorectal neoplasms
Hereditary nonpolyposis colon cancer
Lynch syndrome 4

Reviewed By Expert Panel

CA012575

rs_63750261

6 SubmittersRCV000076882 RCV000132294 RCV001762199 RCV001854344 RCV001778704 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

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA012877

rs_267608151

5 SubmittersRCV000589847 RCV000630112 RCV002408601 RCV003452997

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

Reviewed By Expert Panel

CA013203

rs_267608153

13 SubmittersRCV000076896 RCV000215563 RCV000255696 RCV000524483 RCV000778110 RCV001804828 RCV004689447

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

Reviewed By Expert Panel

CA013335

rs_200640585

20 SubmittersRCV000076901 RCV000115711 RCV000148734 RCV000212858 RCV000524484 RCV000576503 RCV000763587 RCV001354630 RCV003162501

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

Reviewed By Expert Panel

CA013352

rs_143277125

7 SubmittersRCV000076902 RCV000570620 RCV000686600 RCV001536747 RCV003325181

NM_000535.7(PMS2):c.989-2A>G

SNV
Germline

Chr7:5989957

Likely pathogenic

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

Reviewed By Expert Panel

CA013438

rs_587779347

10 SubmittersRCV000132347 RCV000531809 RCV000076905 RCV001523837 RCV001556367 RCV003466969

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

Criteria Provided
Conflicting Classifications

CA011934

rs_398123230

15 SubmittersRCV000131252 RCV000168135 RCV000217757 RCV000679234 RCV001083147 RCV001356423 RCV004739339

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_000179.3(MSH6):c.1621A>C (p.Ser541Arg)

SNV
Germline

Chr2:47799604

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA008929

rs_587779778

3 SubmittersRCV000114750 RCV000129248 RCV003593911

NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro)

SNV
Germline

Chr2:47801146

Likely pathogenic

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

Reviewed By Expert Panel

CA011702

rs_587779254

5 SubmittersRCV001216258 RCV003453034 RCV000114751 RCV000223291

NM_000251.3(MSH2):c.874A>T (p.Thr292Ser)

SNV
Germline

Chr2:47414350

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022468

rs_104895022

7 SubmittersRCV000699802 RCV001800400 RCV003997208 RCV000114837 RCV000115546

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

Criteria Provided
Conflicting Classifications

CA011868

rs_63750948

6 SubmittersRCV000114847 RCV000629785 RCV001026384 RCV003320096 RCV003997209

NM_000179.3(MSH6):c.1028C>T (p.Pro343Leu)

SNV
Germline

Chr2:47799011

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007823

rs_548898238

6 SubmittersRCV000469621 RCV004566998 RCV004806063 RCV000115366 RCV000212641

NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile)

SNV
Germline

Chr2:47799089

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008045

rs_375974046

13 SubmittersRCV000212645 RCV000415687 RCV000528613 RCV000662663 RCV001193101 RCV004566999 RCV000115368 RCV000210148

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.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.1646C>A (p.Ser549Tyr)

SNV
Germline

Chr2:47799629

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008999

rs_200447622

4 SubmittersRCV000546737 RCV000575160 RCV004794362 RCV003997235

NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu)

SNV
Germline

Chr2:47799729

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009115

rs_201518545

12 SubmittersRCV000235184 RCV000409045 RCV001192457 RCV003460812 RCV000115382 RCV000230963

NM_000179.3(MSH6):c.1786T>A (p.Phe596Ile)

SNV
Germline

Chr2:47799769

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009191

rs_587779918

8 SubmittersRCV000233835 RCV000409692 RCV000562745 RCV001800402 RCV003997237 RCV000115383

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

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

Criteria Provided
Conflicting Classifications

CA009795

rs_587779922

5 SubmittersRCV000219041 RCV000630209 RCV003997240 RCV000115387

NM_000179.3(MSH6):c.2173A>G (p.Ile725Val)

SNV
Germline

Chr2:47800156

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009801

rs_148898662

9 SubmittersRCV000781575 RCV000986720 RCV001798329 RCV000115388 RCV000204867 RCV000212660

NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys)

SNV
Germline/somatic

Chr2:47800402

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010227

rs_587779923

13 SubmittersRCV000409470 RCV000491756 RCV000656895 RCV000708875 RCV000765687 RCV001249960 RCV004567001 RCV000199520

NM_000179.3(MSH6):c.242C>T (p.Ala81Val)

SNV
Germline

Chr2:47783475

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010271

rs_587779924

10 SubmittersRCV000412014 RCV000477204 RCV000588221 RCV003467040 RCV000115391

NM_000179.3(MSH6):c.2511C>G (p.His837Gln)

SNV
Germline

Chr2:47800494

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010333

rs_587779925

11 SubmittersRCV000212667 RCV000412127 RCV001193702 RCV001354925 RCV003460814 RCV003997241 RCV000115392 RCV000195931

NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr)

SNV
Germline

Chr2:47800763

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010911

rs_587779926

10 SubmittersRCV000587183 RCV001253566 RCV003460815 RCV003997243 RCV000115395 RCV000206053 RCV000212671

NM_000179.3(MSH6):c.2960C>T (p.Thr987Ile)

SNV
Germline

Chr2:47800943

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011210

rs_587779928

9 SubmittersRCV000558179 RCV000115397 RCV000221869 RCV000662547 RCV001731378 RCV003997244

NM_000179.3(MSH6):c.3142C>T (p.Gln1048Ter)

SNV
Germline

Chr2:47801125

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA011628

rs_200492211

8 SubmittersRCV000544323 RCV000490956 RCV000500240 RCV002288592 RCV000202056

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

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

Criteria Provided
Conflicting Classifications

CA012092

rs_587779932

10 SubmittersRCV000656897 RCV000567226 RCV000662609 RCV003997247 RCV004567004 RCV000168205

NM_000179.3(MSH6):c.3260C>A (p.Pro1087His)

SNV
Germline

Chr2:47803507

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012253

rs_63750753

15 SubmittersRCV000589544 RCV001787917 RCV001808341 RCV003997248 RCV004528800 RCV000115410 RCV000121584 RCV000168382

NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)

SNV
Germline

Chr2:47803530

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012434

rs_376243329

17 SubmittersRCV000412360 RCV000586502 RCV001080360 RCV001798330 RCV003460816 RCV000115413 RCV000121585 RCV000204658

NM_000179.3(MSH6):c.335A>G (p.Asn112Ser)

SNV
Germline

Chr2:47791001

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012677

rs_587779934

14 SubmittersRCV000212629 RCV000524173 RCV000656887 RCV001355172 RCV003997249 RCV000115414 RCV000122964

NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp)

SNV
Germline

Chr2:47804956

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013090

rs_587779935

5 SubmittersRCV000819197 RCV003453035 RCV000115416 RCV000212684

NM_000179.3(MSH6):c.3647-6T>A

SNV
Germline

Chr2:47806198

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013707

rs_182871847

17 SubmittersRCV000587059 RCV000662552 RCV000579665 RCV001081821 RCV001357466 RCV003997250 RCV004739399 RCV000115418

NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)

SNV
Germline

Chr2:47806284

Conflicting classifications of pathogenicity

Lynch syndrome 5
Condition: not provided
bilateral breast cancer
Hereditary nonpolyposis colorectal neoplasms
not specified
Inherited ovarian cancer (without breast cancer)
Hereditary cancer-predisposing syndrome
Lynch syndrome
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA014099

rs_147453999

22 SubmittersRCV000659895 RCV000588959 RCV001005027 RCV001081954 RCV001358662 RCV004584193 RCV000115419 RCV000122966 RCV000212687

NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)

SNV
Germline

Chr2:47806315

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014183

rs_202066386

17 SubmittersRCV000212688 RCV000656901 RCV001139791 RCV001355140 RCV003467041 RCV003997251 RCV004739400 RCV000115421 RCV000196523

NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)

SNV
Germline

Chr2:47806345

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014284

rs_147852216

14 SubmittersRCV000656903 RCV000662548 RCV000764435 RCV001079217 RCV000115423 RCV000121588

NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr)

SNV
Germline

Chr2:47806474

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014456

rs_150990541

12 SubmittersRCV000410495 RCV000656904 RCV001194392 RCV001354737 RCV004567006 RCV000115424 RCV000119134

NM_000179.3(MSH6):c.644T>G (p.Val215Gly)

SNV
Germline

Chr2:47798627

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016108

rs_587779946

6 SubmittersRCV001071512 RCV000115437 RCV003997254 RCV001190341 RCV003467043

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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA016246

rs_587779947

8 SubmittersRCV000115441 RCV000410116 RCV000466432 RCV000566072 RCV003997255 RCV003467044

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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA016514

rs_587779949

7 SubmittersRCV000115444 RCV000222274 RCV000554997 RCV003997257 RCV004567007

NM_000249.4(MLH1):c.1136A>T (p.Tyr379Phe)

SNV
Germline

Chr3:37025734

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
MLH1-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA004439

rs_143009528

9 SubmittersRCV000212530 RCV000115451 RCV001063775 RCV002265606 RCV003407496 RCV003997258

NM_000249.4(MLH1):c.1148T>C (p.Met383Thr)

SNV
Germline

Chr3:37025746

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004469

rs_141344760

13 SubmittersRCV000459634 RCV000656861 RCV000662617 RCV003997259 RCV000115452 RCV000148622 RCV000212532

NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn)

SNV
Germline

Chr3:37025800

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004704

rs_587779951

10 SubmittersRCV000222306 RCV000663036 RCV000813295 RCV001824610 RCV003997260 RCV000115454

NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp)

SNV
Germline

Chr3:37025942

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA005039

rs_587779952

13 SubmittersRCV000212536 RCV000412424 RCV000545514 RCV002505032 RCV003997261 RCV000115457

NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)

SNV
Germline

Chr3:37025977

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA005155

rs_202038499

17 SubmittersRCV000254663 RCV000524234 RCV000662461 RCV001354082 RCV004748582 RCV000115459 RCV000196112

NM_000249.4(MLH1):c.1558+5G>A

SNV
Germline/somatic

Chr3:37028937

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA005861

rs_199935667

14 SubmittersRCV000515436 RCV000590226 RCV000663109 RCV000758646 RCV001086042 RCV001175375 RCV003149796 RCV000115461

NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg)

SNV
Germline

Chr3:37040264

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA006196

rs_587779954

12 SubmittersRCV000566461 RCV000629933 RCV000625759 RCV000662406 RCV000759809 RCV000115463 RCV000211532

NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)

SNV
Germline

Chr3:37042330

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA006520

rs_56185292

16 SubmittersRCV000226023 RCV000411289 RCV000515241 RCV000656864 RCV003997263 RCV000115465 RCV000121362

NM_000251.3(MSH2):c.-3G>C

SNV
Germline

Chr2:47403189

Conflicting classifications of pathogenicity

Lynch syndrome 1
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
MSH2-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA021130

rs_587779960

12 SubmittersRCV000410255 RCV000589085 RCV001357931 RCV001854552 RCV001818270 RCV004529929 RCV000115491

NM_000251.3(MSH2):c.1027A>G (p.Asn343Asp)

SNV
Germline

Chr2:47416380

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016891

rs_587779961

6 SubmittersRCV000467692 RCV000562717 RCV004567008 RCV004806064 RCV000115492

NM_000251.3(MSH2):c.1122G>C (p.Gln374His)

SNV
Germline

Chr2:47429787

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017281

rs_370378607

5 SubmittersRCV000115493 RCV000122979 RCV003997266 RCV000580948

NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)

SNV
Germline

Chr2:47429847

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017419

rs_374135434

11 SubmittersRCV000212598 RCV000477595 RCV000663103 RCV001818271 RCV003997267 RCV000115496

NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys)

SNV
Germline

Chr2:47429869

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017489

rs_63751412

9 SubmittersRCV000574856 RCV000663163 RCV001193851 RCV003997268 RCV000115497 RCV000206195

NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro)

SNV
Germline

Chr2:47429903

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017617

rs_587779962

8 SubmittersRCV000532709 RCV000115499 RCV000212601 RCV003997269 RCV003467045 RCV000515341

NM_000251.3(MSH2):c.1505A>G (p.Asp502Gly)

SNV
Germline

Chr2:47463149

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA018475

rs_148192104

10 SubmittersRCV000475133 RCV001527007 RCV003460819 RCV003997270 RCV004529930 RCV000115502 RCV000222010

NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln)

SNV
Germline

Chr2:47466729

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018669

rs_199744440

8 SubmittersRCV000463961 RCV000491225 RCV000662996 RCV001354840 RCV003997271 RCV000115503

NM_000251.3(MSH2):c.1601G>A (p.Arg534His)

SNV
Germline

Chr2:47466748

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome
MSH2-related disorder
Hereditary nonpolyposis colorectal neoplasms
not specified

Criteria Provided
Conflicting Classifications

CA018712

rs_587778523

14 SubmittersRCV000492001 RCV000662395 RCV000656878 RCV003997272 RCV004734649 RCV000122981 RCV000121559

NM_000251.3(MSH2):c.1724A>G (p.Asp575Gly)

SNV
Germline

Chr2:47471027

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019119

rs_370330868

9 SubmittersRCV000679295 RCV000708833 RCV001193892 RCV000115507 RCV000198150

NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)

SNV
Germline

Chr2:47475112

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019432

rs_587779965

14 SubmittersRCV000411841 RCV000708836 RCV001194001 RCV001355718 RCV004734650 RCV000115512 RCV000212611 RCV000205979

NM_000251.3(MSH2):c.2554G>C (p.Glu852Gln)

SNV
Germline

Chr2:47480791

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020723

rs_587779966

5 SubmittersRCV000221197 RCV003997274 RCV000115520 RCV000196855

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.2801C>T (p.Thr934Met)

SNV
Germline

Chr2:47482945

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020959

rs_587779969

11 SubmittersRCV001086842 RCV000986691 RCV001194031 RCV001357791 RCV003997276 RCV000115524 RCV000212622

NM_000251.3(MSH2):c.328A>C (p.Lys110Gln)

SNV
Germline

Chr2:47408517

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

CA021018

rs_587779970

9 SubmittersRCV000475276 RCV000567258 RCV001269195 RCV003467047 RCV003997277 RCV000115526

NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys)

SNV
Germline

Chr2:47408551

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021046

rs_587779971

9 SubmittersRCV000226077 RCV000220764 RCV001257467 RCV003387764 RCV003997278 RCV000115527

NM_000251.3(MSH2):c.382C>G (p.Leu128Val)

SNV
Germline

Chr2:47410109

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021100

rs_145649774

15 SubmittersRCV000212583 RCV000524406 RCV000986649 RCV001353804 RCV001719858 RCV003492474 RCV004700420 RCV000115528 RCV000195415

NM_000251.3(MSH2):c.386C>T (p.Ser129Phe)

SNV
Germline

Chr2:47410113

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021109

rs_587779972

4 SubmittersRCV000115529 RCV001854553 RCV004567009 RCV002354293

NM_000251.3(MSH2):c.403C>T (p.Leu135Phe)

SNV
Germline

Chr2:47410130

Conflicting classifications of pathogenicity

Lynch syndrome 1
not specified
Lynch syndrome
MSH2-related disorder
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA021136

rs_193096019

12 SubmittersRCV000411543 RCV001175574 RCV003997279 RCV004734651 RCV000115530 RCV000199902 RCV000217044

NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)

SNV
Germline

Chr2:47410334

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021564

rs_587779973

8 SubmittersRCV000221014 RCV000409174 RCV000472250 RCV003997280 RCV000115536

NM_000251.3(MSH2):c.610G>A (p.Gly204Arg)

SNV
Germline

Chr2:47410337

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021573

rs_63750574

10 SubmittersRCV000215932 RCV000411245 RCV002505033 RCV003997281 RCV000115537 RCV000196378

NM_000251.3(MSH2):c.709A>G (p.Ile237Val)

SNV
Germline

Chr2:47412477

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022070

rs_63751307

5 SubmittersRCV000543104 RCV000567353 RCV003997282 RCV000115540

NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)

SNV
Germline

Chr2:47403261

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

CA022076

rs_587779976

8 SubmittersRCV000772129 RCV002515795 RCV003479007 RCV003453042 RCV004017400 RCV000115541

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
Malignant tumor of breast
Lynch-like syndrome
Breast and/or ovarian cancer
PMS2-related disorder
Hereditary cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA009076

rs_200513014

27 SubmittersRCV000115647 RCV000121835 RCV000415644 RCV000586586 RCV001080700 RCV001354576 RCV001249992 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

11 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
PMS2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009271

rs_587780039

10 SubmittersRCV000115651 RCV000212859 RCV000229947 RCV001030722 RCV001199850 RCV003467050 RCV003421993 RCV003997284

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

Criteria Provided
Conflicting Classifications

CA009466

rs_376042544

8 SubmittersRCV000115655 RCV000228417 RCV000565134 RCV003467051 RCV003415890

NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)

SNV
Germline

Chr7:5987275

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009765

rs_199739859

19 SubmittersRCV000115659 RCV000121849 RCV000123081 RCV000656948 RCV000663092 RCV001354802

NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)

SNV
Germline

Chr7:5987198

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Lynch syndrome 4
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

17 SubmittersRCV000115661 RCV000121851 RCV000656949 RCV000662627 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
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA010408

rs_587780044

7 SubmittersRCV000115667 RCV000214212 RCV000559426 RCV001420821 RCV003997287 RCV004567012

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

Criteria Provided
Conflicting Classifications

CA010512

rs_372341850

10 SubmittersRCV000115668 RCV000195978 RCV000212864 RCV001844040 RCV003997288 RCV004567013

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
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Condition: not provided
Lynch syndrome 4
Breast and/or ovarian cancer
Lynch syndrome
Mismatch repair cancer syndrome 4
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA010720

rs_587780046

26 SubmittersRCV000115670 RCV000144642 RCV000200451 RCV000212865 RCV000515168 RCV000488189 RCV000987820 RCV003149799 RCV003483476 RCV004760379

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

Criteria Provided
Conflicting Classifications

CA010735

rs_587780047

6 SubmittersRCV000115671 RCV000212866 RCV000547118 RCV004567014

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
Condition: not provided
Lynch syndrome 4
not specified
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA010829

rs_370196722

13 SubmittersRCV000115673 RCV000456314 RCV000587414 RCV000662645 RCV000855604 RCV002505034

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
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Condition: not provided
Malignant tumor of breast
PMS2-related disorder
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA011325

rs_143340522

19 SubmittersRCV000115684 RCV000206341 RCV000212871 RCV000411108 RCV000515369 RCV000759201 RCV001355417 RCV003415891 RCV003149800

NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)

SNV
Germline

Chr7:5977596

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011485

rs_375968016

13 SubmittersRCV000115687 RCV000212874 RCV000196074 RCV000656952 RCV003153372 RCV003492487 RCV003467055

NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)

SNV
Germline

Chr7:5973465

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA048801

rs_587780057

7 SubmittersRCV000586246 RCV000987818 RCV002256045 RCV004700421 RCV004742258

NM_000535.7(PMS2):c.2T>C (p.Met1Thr)

SNV
Germline

Chr7:6009018

Pathogenic/Likely 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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011828

rs_188006077

9 SubmittersRCV000115693 RCV000465201 RCV000586637 RCV001174801 RCV003467056 RCV004806065 RCV004742259

NM_000535.7(PMS2):c.354-5C>G

SNV
Germline

Chr7:6002641

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011959

rs_200591010

9 SubmittersRCV000115694 RCV000200031 RCV000212841 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
Hereditary cancer
PMS2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012132

rs_142416537

16 SubmittersRCV000115696 RCV000123087 RCV000235195 RCV000765968 RCV000987848 RCV001355954 RCV002465515 RCV004700422 RCV003952550 RCV003997290

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
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA012442

rs_374704824

17 SubmittersRCV000115699 RCV000123090 RCV000148736 RCV000212845 RCV000757678 RCV000987846 RCV001079691 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

Criteria Provided
Conflicting Classifications

CA012509

rs_376258383

13 SubmittersRCV000115700 RCV000212847 RCV000472958 RCV000663188 RCV001193815 RCV003492488

NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)

SNV
Germline

Chr7:5995614

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA012937

rs_587780062

18 SubmittersRCV000115704 RCV000216292 RCV000763589 RCV000552808 RCV000709755 RCV001264438 RCV003997292

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
Lynch syndrome
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Breast and/or ovarian cancer
Lynch syndrome
Mismatch repair cancer syndrome 4
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA013022

rs_116788608

19 SubmittersRCV000115706 RCV000121861 RCV000144656 RCV000197094 RCV000409948 RCV000588331 RCV000708992 RCV000765960 RCV001798338 RCV003326121 RCV004742260

NM_000535.7(PMS2):c.880C>T (p.Arg294Trp)

SNV
Germline

Chr7:5995557

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
PMS2-related disorder
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013136

rs_563433235

7 SubmittersRCV000212854 RCV000115708 RCV000168085 RCV003407498 RCV003315640 RCV003997293

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

9 SubmittersRCV000115710 RCV000469956 RCV000656943 RCV001093686 RCV003460827 RCV003997295 RCV004742261

NM_000535.7(PMS2):c.989-1G>T

SNV
Germline

Chr7:5989956

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA013429

rs_587780064

9 SubmittersRCV000115713 RCV001804845 RCV000563759 RCV000697325 RCV003997296 RCV001258088

NM_002354.3(EPCAM):c.267G>C (p.Gln89His)

SNV
Germline

Chr2:47373890

Conflicting classifications of pathogenicity

not specified
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
EPCAM-related disorder

Criteria Provided
Conflicting Classifications

CA287877

rs_146480420

13 SubmittersRCV000115770 RCV000123185 RCV000664266 RCV000589651 RCV004751265

NM_000179.3(MSH6):c.1367G>A (p.Trp456Ter)

SNV
Germline

Chr2:47799350

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008538

rs_587780538

5 SubmittersRCV000491356 RCV000519222 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

Criteria Provided
Conflicting Classifications

CA011755

rs_587780559

7 SubmittersRCV000119240 RCV000129377 RCV000433737 RCV001357336 RCV003997308

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
MLH1-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010776

rs_367654552

18 SubmittersRCV000121355 RCV000130101 RCV000199110 RCV000410307 RCV000656856 RCV003935160 RCV003997344

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

Criteria Provided
Conflicting Classifications

CA021548

rs_587778521

13 SubmittersRCV000121557 RCV000168363 RCV000410801 RCV000512708 RCV000561626 RCV003997346

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
Lynch syndrome 1
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA019989

rs_587778522

8 SubmittersRCV000121558 RCV000771511 RCV000808087 RCV003997347 RCV004567049 RCV004528832

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
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019328

rs_587778526

7 SubmittersRCV000121563 RCV000543103 RCV001804848 RCV003325461 RCV004530024 RCV004806069

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
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Lynch syndrome
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020232

rs_150548839

13 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

8 SubmittersRCV000121571 RCV000215694 RCV000457237 RCV000586380 RCV003460854 RCV003997351

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
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
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

Criteria Provided
Conflicting Classifications

CA009094

rs_376220212

19 SubmittersRCV000121579 RCV000131162 RCV000204422 RCV000410866 RCV000587914 RCV000708870 RCV001249972 RCV001355523 RCV001762265

NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala)

SNV
Germline

Chr2:47803480

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012103

rs_376452612

13 SubmittersRCV000121586 RCV000200854 RCV000214188 RCV000590417 RCV000663151 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

Criteria Provided
Conflicting Classifications

CA014193

rs_202066386

15 SubmittersRCV000121589 RCV000160698 RCV000206271 RCV000411602 RCV000656902 RCV003460856 RCV003997354 RCV004739417

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

11 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
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Hereditary nonpolyposis colon cancer
Lynch syndrome
PMS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA010032

rs_587778618

15 SubmittersRCV000121846 RCV000132169 RCV000222921 RCV000530464 RCV001356008 RCV002288610 RCV002483226 RCV003155080 RCV003997356 RCV004742269

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

17 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

Criteria Provided
Conflicting Classifications

CA012369

rs_587778620

8 SubmittersRCV000121858 RCV000412111 RCV000570676 RCV001030724 RCV001244956 RCV003153398

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

22 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

Criteria Provided
Conflicting Classifications

CA010164

rs_202127474

15 SubmittersRCV000160681 RCV000172814 RCV000412250 RCV000588994 RCV001084037 RCV003149835 RCV003493450

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
MSH6-related disorder
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA011639

rs_576269342

14 SubmittersRCV000132157 RCV000408980 RCV000588824 RCV001030498 RCV001257068 RCV001355067 RCV001796965 RCV004528840 RCV003492535

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
Malignant tumor of breast
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA012231

rs_63750998

13 SubmittersRCV000122963 RCV000128933 RCV000411062 RCV000587527 RCV001354177 RCV001255217 RCV003149837

NM_000179.3(MSH6):c.628-7C>A

SNV
Germline

Chr2:47798604

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016029

rs_373129248

16 SubmittersRCV000411528 RCV000588337 RCV000580986 RCV001080866 RCV001356719 RCV001818293

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
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Breast and/or ovarian cancer
Lynch syndrome
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA010370

rs_369737664

13 SubmittersRCV000126779 RCV000212511 RCV000585926 RCV001147828 RCV001081345 RCV001358331 RCV003492536 RCV003997404 RCV003975092

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
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
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

Criteria Provided
Conflicting Classifications

CA019664

rs_587780685

4 SubmittersRCV000122984 RCV001013915 RCV003997406

NM_000251.3(MSH2):c.2458+8C>G

SNV
Germline

Chr2:47478527

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
MSH2-related disorder
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA020612

rs_189025757

11 SubmittersRCV000122985 RCV000202181 RCV000411107 RCV000580893 RCV004530048 RCV003492537

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

Criteria Provided
Conflicting Classifications

CA021025

rs_34312619

11 SubmittersRCV000163093 RCV000420474 RCV000590813 RCV000662370 RCV001082839 RCV003997409

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

Criteria Provided
Conflicting Classifications

CA022370

rs_146577635

12 SubmittersRCV000160641 RCV000212592 RCV000586418 RCV001082291 RCV001139365

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

Criteria Provided
Conflicting Classifications

CA009542

rs_587780722

6 SubmittersRCV000123075 RCV000572231 RCV002466437 RCV003997413

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

10 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
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 4
not specified
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA009843

rs_63750649

16 SubmittersRCV000132386 RCV000410304 RCV000483157 RCV000515260 RCV000780619 RCV001085962 RCV001798404

NM_000535.7(PMS2):c.1936A>C (p.Arg646=)

SNV
Germline

Chr7:5986829

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010496

rs_369582237

10 SubmittersRCV000123084 RCV000163542 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
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA012032

rs_116373169

22 SubmittersRCV000128980 RCV000200993 RCV000587673 RCV000662720 RCV000758689 RCV001093681 RCV001084082 RCV001356925 RCV003492544

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

Criteria Provided
Conflicting Classifications

CA012968

rs_1805322

17 SubmittersRCV000128979 RCV000586384 RCV001082886 RCV001818294 RCV003492546 RCV003989321 RCV004806074

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 4
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013151

rs_182246929

10 SubmittersRCV000123094 RCV000165443 RCV000487208 RCV002267863 RCV003460871 RCV003483489 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
MSH2-related disorder
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018604

rs_63750820

16 SubmittersRCV000126813 RCV000212603 RCV000524346 RCV000662509 RCV001356577 RCV001815198 RCV004532521 RCV003492569 RCV003997440

NM_000251.3(MSH2):c.2205C>T (p.Ile735=)

SNV
Germline

Chr2:47476566

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020227

rs_533553381

16 SubmittersRCV000126821 RCV000212617 RCV000323210 RCV000409899 RCV000590738 RCV001083829 RCV003149864

NM_000179.3(MSH6):c.1665A>G (p.Ala555=)

SNV
Germline

Chr2:47799648

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009022

rs_146785465

17 SubmittersRCV000126827 RCV000212650 RCV000586048 RCV000662603 RCV001084346 RCV003997443 RCV003492571

NM_000179.3(MSH6):c.4002-14T>C

SNV
Germline

Chr2:47806765

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015255

rs_587781041

6 SubmittersRCV000126837 RCV000409445 RCV000776217 RCV003997445

NM_000535.7(PMS2):c.988+11T>C

SNV
Germline

Chr7:5991962

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013404

rs_139969671

9 SubmittersRCV000127458 RCV000579510 RCV002055749 RCV001164299 RCV003492573

NM_000535.7(PMS2):c.1560G>A (p.Ala520=)

SNV
Germline

Chr7:5987205

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009868

rs_201167814

18 SubmittersRCV001357279 RCV000162432 RCV000127461 RCV001798425 RCV000487654 RCV003997451 RCV001079708 RCV001159293

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

20 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

16 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

17 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
Lynch syndrome
Condition: not provided
Endometrial carcinoma
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA016410

rs_587781275

14 SubmittersRCV000128926 RCV000168003 RCV000202238 RCV000410809 RCV000761137 RCV000656890 RCV003467099 RCV003492580

NM_000251.3(MSH2):c.775C>T (p.Pro259Ser)

SNV
Germline

Chr2:47412543

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022230

rs_587781294

12 SubmittersRCV000128997 RCV000228319 RCV000235651 RCV000759122 RCV001269353 RCV003333736 RCV004532540 RCV003997470

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
not specified
Lynch syndrome 4
Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
PMS2-related disorder
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA012861

rs_199660792

11 SubmittersRCV000129024 RCV000254679 RCV000293218 RCV001356694 RCV002514707 RCV003905226 RCV003477536 RCV003492582

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
Inherited polyposis and early onset colorectal cancer - germline testing

Criteria Provided
Conflicting Classifications

CA009950

rs_199876321

17 SubmittersRCV000129031 RCV000195792 RCV000657020 RCV000662484 RCV001002443 RCV003460882 RCV003997472 RCV004808591

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
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA018049

rs_587781331

9 SubmittersRCV000129078 RCV000210120 RCV000524342 RCV000482497 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

Criteria Provided
Multiple Submitters
No Conflicts

CA014077

rs_63750119

13 SubmittersRCV000129081 RCV000230170 RCV000485282 RCV000663091 RCV001034637 RCV003460886 RCV003997478

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
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA013226

rs_587781339

9 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
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008808

rs_587781342

6 SubmittersRCV000129119 RCV000823517 RCV001800424 RCV004567078 RCV003997480

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

Criteria Provided
Conflicting Classifications

CA018266

rs_587781346

7 SubmittersRCV000129124 RCV000210186 RCV000688403 RCV003477537

NM_000179.3(MSH6):c.2482G>A (p.Val828Ile)

SNV
Germline

Chr2:47800465

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010298

rs_587781349

7 SubmittersRCV000129131 RCV001140447 RCV000226891 RCV004700437 RCV003997483 RCV004532546

NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter)

SNV
Germline

Chr2:47800915

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA011127

rs_587781372

6 SubmittersRCV000129185 RCV000202022 RCV003453060 RCV001849919

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

Criteria Provided
Conflicting Classifications

CA009484

rs_587781382

7 SubmittersRCV000129211 RCV000232320 RCV000486562 RCV003235051 RCV003997486

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.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

8 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
Carcinoma of colon
Rhabdomyosarcoma
Hereditary nonpolyposis colon cancer
Condition: not provided

Reviewed By Expert Panel

CA009983

rs_587781462

12 SubmittersRCV000129397 RCV000410431 RCV000477388 RCV000501569 RCV000622945 RCV001353758 RCV001257543 RCV001251301 RCV004719708

NM_000251.1(MSH2):c.-179C>T

SNV
Germline

Chr2:47403013

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021764

rs_17224094

3 SubmittersRCV000129414 RCV000410292 RCV000679280

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_000249.4(MLH1):c.704A>T (p.Asp235Val)

SNV
Germline

Chr3:37014458

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011774

rs_587781505

10 SubmittersRCV000129480 RCV002285268 RCV003997505 RCV003153416 RCV000529021 RCV001030626 RCV001290582

NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)

SNV
Germline

Chr2:47798888

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016638

rs_587781510

11 SubmittersRCV000129487 RCV000662957 RCV000708859 RCV000168210 RCV000589579 RCV000216085

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
Hereditary nonpolyposis colorectal neoplasms
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013509

rs_369778514

9 SubmittersRCV000129582 RCV000411815 RCV000479516 RCV000810760 RCV000780465 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
Condition: not provided
Lynch syndrome 5
Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA011400

rs_587781593

9 SubmittersRCV000129648 RCV000480608 RCV003315879 RCV001354619 RCV000459156 RCV003997514 RCV004567091

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
Lynch syndrome 5
Mismatch repair cancer syndrome 1
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009251

rs_587781616

11 SubmittersRCV000129705 RCV000200701 RCV000587763 RCV000708871 RCV000765684 RCV004567094

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

6 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
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA018091

rs_587781627

9 SubmittersRCV000129729 RCV002267870 RCV000460057 RCV000588274 RCV000761179

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

Criteria Provided
Conflicting Classifications

CA012124

rs_186240214

11 SubmittersRCV000129766 RCV000464994 RCV001175358 RCV003997523 RCV000409325 RCV003153418 RCV000515187 RCV000586138 RCV003467119

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
MSH6-related disorder
Endometrial carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA015298

rs_564434147

14 SubmittersRCV000129804 RCV000204360 RCV000409369 RCV000656905 RCV004532553 RCV003467121 RCV001375525

NM_000179.3(MSH6):c.3111C>A (p.Phe1037Leu)

SNV
Germline

Chr2:47801094

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011575

rs_587781673

6 SubmittersRCV000129832 RCV001298939 RCV000221076 RCV000410297 RCV003997528

NM_000251.3(MSH2):c.2439G>A (p.Met813Ile)

SNV
Germline

Chr2:47478500

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
MSH2-related disorder
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020596

rs_587781678

8 SubmittersRCV000129838 RCV000482932 RCV004532554 RCV000168339 RCV003335115 RCV003997529

NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)

SNV
Germline

Chr7:5987077

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010059

rs_63750668

11 SubmittersRCV000129896 RCV000662634 RCV001193855 RCV000478617 RCV001081618

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

Criteria Provided
Conflicting Classifications

CA022041

rs_587781724

8 SubmittersRCV000129911 RCV000465942 RCV001551502 RCV003460906 RCV003997535

NM_000179.3(MSH6):c.2855T>C (p.Leu952Pro)

SNV
Germline

Chr2:47800838

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011015

rs_587781743

5 SubmittersRCV000129947 RCV000502711 RCV001582602 RCV000629697 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
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA004033

rs_587781750

10 SubmittersRCV000129956 RCV000196459 RCV000411750 RCV001568035 RCV003997537 RCV003226208

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

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
MSH2-related disorder
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021142

rs_587781795

12 SubmittersRCV000202282 RCV000130057 RCV000679311 RCV001798439 RCV004734672 RCV000196356 RCV001355466 RCV003997545

NM_000535.7(PMS2):c.823C>G (p.Gln275Glu)

SNV
Germline

Chr7:5995614

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012928

rs_587780062

9 SubmittersRCV000130089 RCV000411073 RCV001079273 RCV000486746 RCV002265615 RCV003997548

NM_000251.3(MSH2):c.2503A>G (p.Asn835Asp)

SNV
Germline

Chr2:47480740

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020655

rs_41295296

8 SubmittersRCV000130169 RCV000520077 RCV003997554 RCV003460914 RCV000198710

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
not specified
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA010487

rs_139598980

8 SubmittersRCV000130173 RCV000222583 RCV000238642 RCV003317097 RCV000524147

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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA016753

rs_138143769

8 SubmittersRCV000130197 RCV000630133 RCV000679242 RCV004806077 RCV003460915

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

Criteria Provided
Conflicting Classifications

CA010772

rs_587781909

11 SubmittersRCV000130250 RCV000222360 RCV000230692 RCV001251272 RCV001798443 RCV003467136

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
not specified
PMS2-related disorder
Lynch syndrome
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA013376

rs_377043696

9 SubmittersRCV000130331 RCV000206806 RCV001193814 RCV004724826 RCV004806078 RCV000222996 RCV003460921

NM_000179.3(MSH6):c.998C>T (p.Thr333Ile)

SNV
Germline

Chr2:47798981

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016780

rs_587781983

11 SubmittersRCV000212639 RCV000130382 RCV000986711 RCV003460924 RCV000475028

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
MSH2-related disorder
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020155

rs_587781996

12 SubmittersRCV000130409 RCV000168465 RCV000509191 RCV004532559 RCV000487305 RCV003998056

NM_000535.7(PMS2):c.2276-10A>G

SNV
Germline

Chr7:5977767

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011165

rs_573900018

9 SubmittersRCV000130505 RCV000203735 RCV001080492 RCV000441367 RCV000662656

NM_000535.7(PMS2):c.23+1G>T

SNV
Germline

Chr7:6008996

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

CA011233

rs_587782074

7 SubmittersRCV000130565 RCV000479138 RCV003453076 RCV000529500 RCV004556742

NM_000179.3(MSH6):c.25A>G (p.Ser9Gly)

SNV
Germline

Chr2:47783258

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010478

rs_41294986

8 SubmittersRCV000130571 RCV000235178 RCV004567118 RCV003998064 RCV000475467 RCV001527050

NM_000179.3(MSH6):c.34C>A (p.Pro12Thr)

SNV
Germline

Chr2:47783267

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013137

rs_587782084

11 SubmittersRCV000130582 RCV004567119 RCV000530606 RCV000484580 RCV003998065 RCV000986696 RCV002281956

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.3832C>A (p.Pro1278Thr)

SNV
Germline

Chr2:47806482

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014466

rs_587782109

9 SubmittersRCV000130625 RCV000589175 RCV001260255 RCV001086478 RCV003998071

NM_000251.3(MSH2):c.1270C>T (p.His424Tyr)

SNV
Germline

Chr2:47429935

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017712

rs_587782278

7 SubmittersRCV000131137 RCV000481281 RCV000464371 RCV003447501 RCV003998086

NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)

SNV
Germline

Chr2:47799347

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing 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 SubmittersRCV000196009 RCV000131161 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

Criteria Provided
Conflicting Classifications

CA015926

rs_587782315

5 SubmittersRCV000131212 RCV000477097 RCV002510790 RCV003998091

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

SNV
Germline

Chr2:47783232

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Condition: not provided
Breast and/or ovarian cancer
MSH6-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA011320

rs_374748889

12 SubmittersRCV000131214 RCV000199508 RCV000588323 RCV003492616 RCV004532569 RCV001818322

NM_000179.3(MSH6):c.3014G>A (p.Arg1005Gln)

SNV
Germline

Chr2:47800997

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011349

rs_587782324

8 SubmittersRCV000131231 RCV001060704 RCV001290553 RCV000764426 RCV003998092 RCV004567127 RCV004777601

NM_000535.7(PMS2):c.2007-2A>C

SNV
Germline

Chr7:5982993

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA010693

rs_587782336

3 SubmittersRCV000131264 RCV000818298 RCV003453081

NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)

SNV
Germline

Chr7:5987386

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009586

rs_150201462

14 SubmittersRCV000483100 RCV000131270 RCV000477201 RCV000767041 RCV003492618 RCV000662638 RCV001353427 RCV003998095

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

6 SubmittersRCV000131285 RCV000479474 RCV000548616 RCV002509239 RCV003998097

NM_000179.3(MSH6):c.1607G>A (p.Ser536Asn)

SNV
Germline

Chr2:47799590

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA008866

rs_587782352

4 SubmittersRCV000131295 RCV003998099 RCV000693545

NM_000251.3(MSH2):c.163C>G (p.Arg55Gly)

SNV
Germline

Chr2:47403354

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018773

rs_587782354

7 SubmittersRCV000212579 RCV000545235 RCV000131300 RCV004567130 RCV003998100 RCV004700449

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
Lynch syndrome 5
Condition: not provided
Malignant tumor of breast
Hereditary nonpolyposis colon cancer
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA016133

rs_554012110

16 SubmittersRCV000131354 RCV000167904 RCV000411184 RCV000212632 RCV001355774 RCV001535792 RCV000708856 RCV001193124

NM_000179.3(MSH6):c.2926C>T (p.Arg976Cys)

SNV
Germline

Chr2:47800909

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011096

rs_587782386

8 SubmittersRCV000131393 RCV001355155 RCV000630013 RCV001818325 RCV000212673 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

Criteria Provided
Conflicting Classifications

CA020172

rs_587782396

12 SubmittersRCV000131413 RCV000227062 RCV000486473 RCV000524379 RCV000767207 RCV003998103 RCV003467174 RCV004532570

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

Criteria Provided
Conflicting Classifications

CA011333

rs_576055272

21 SubmittersRCV000131526 RCV001082079 RCV000656951 RCV000662644 RCV001798453 RCV000218670

NM_000179.3(MSH6):c.491A>C (p.His164Pro)

SNV
Germline

Chr2:47795927

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015726

rs_146469162

12 SubmittersRCV000131540 RCV004544299 RCV001085010 RCV000212631 RCV000656888 RCV000662620 RCV004806080

NM_000535.7(PMS2):c.1399G>A (p.Val467Ile)

SNV
Germline/somatic

Chr7:5987366

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009624

rs_373611083

11 SubmittersRCV000131574 RCV000656947 RCV001249988 RCV003894996 RCV003998108 RCV000457616 RCV003149908

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

Criteria Provided
Conflicting Classifications

CA009836

rs_587782479

7 SubmittersRCV000131593 RCV000696828 RCV001563355 RCV003998111

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

3 SubmittersRCV000131596 RCV000805430 RCV002466443 RCV002466444

NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr)

SNV
Germline

Chr2:47800810

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010974

rs_143520357

9 SubmittersRCV000412088 RCV000131640 RCV000205918 RCV000212672 RCV004739455 RCV001356309

NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg)

SNV
Germline

Chr2:47800010

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009570

rs_143643688

10 SubmittersRCV000131641 RCV003462017 RCV001354229 RCV000204601 RCV000212656 RCV000410949 RCV004739456

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

10 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
Lynch syndrome 1
MSH2-related disorder
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022651

rs_4987188

15 SubmittersRCV000131668 RCV000410421 RCV004734676 RCV003150951 RCV000203979 RCV000482522 RCV001357874

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
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022513

rs_587782530

4 SubmittersRCV000131729 RCV001202065 RCV000487151 RCV004806081

NM_000535.7(PMS2):c.1243G>A (p.Val415Met)

SNV
Germline

Chr7:5987522

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
PMS2-related disorder
not specified
Endometrial carcinoma
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA009419

rs_138387687

18 SubmittersRCV000131757 RCV000586259 RCV004742274 RCV000855605 RCV001355081 RCV002275085 RCV003323294 RCV000198383 RCV001535477 RCV000987834

NM_000535.7(PMS2):c.2412G>C (p.Lys804Asn)

SNV
Germline

Chr7:5977621

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011460

rs_547715146

6 SubmittersRCV000131772 RCV000689497 RCV000222535 RCV001193254 RCV003467186

NM_000251.3(MSH2):c.860G>C (p.Gly287Ala)

SNV
Germline

Chr2:47414336

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022444

rs_587782567

8 SubmittersRCV000131790 RCV000855651 RCV000688511 RCV003998117 RCV000588299 RCV003467187

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.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

Criteria Provided
Multiple Submitters
No Conflicts

CA010661

rs_587782593

8 SubmittersRCV000131937 RCV000578967 RCV001046832 RCV003313781 RCV003453087

NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu)

SNV
Germline

Chr7:5987284

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009752

rs_587782602

11 SubmittersRCV000131960 RCV000223568 RCV000168413 RCV001193253 RCV000662631 RCV003998124

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

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

Criteria Provided
Conflicting Classifications

CA006877

rs_587782621

12 SubmittersRCV000662692 RCV000132004 RCV003407556 RCV004596073 RCV000524250 RCV000199682 RCV000483590

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

Criteria Provided
Conflicting Classifications

CA012948

rs_587782625

9 SubmittersRCV000132010 RCV000234247 RCV000412120 RCV000484116 RCV000708888

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
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019428

rs_587782627

5 SubmittersRCV000132012 RCV000629677 RCV001030712 RCV003998127 RCV003129784

NM_000179.3(MSH6):c.727C>T (p.Arg243Cys)

SNV
Germline

Chr2:47798710

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016337

rs_377216828

10 SubmittersRCV000132028 RCV000410426 RCV000480539 RCV000464603 RCV003153428 RCV003462027 RCV003998130 RCV004689622

NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)

SNV
Germline

Chr7:5973429

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011680

rs_371673459

14 SubmittersRCV000199501 RCV000132047 RCV000479601 RCV000656953 RCV003483508 RCV003149910

NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)

SNV
Germline/somatic

Chr2:47799064

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007972

rs_587782651

9 SubmittersRCV000132064 RCV000758606 RCV001420719 RCV000230863 RCV000589862

NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)

SNV
Germline

Chr2:47403402

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020066

rs_587782659

9 SubmittersRCV000132075 RCV000535324 RCV000985801 RCV000503476 RCV001353465 RCV003453090

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

4 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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017103

rs_63751604

7 SubmittersRCV000225952 RCV000132158 RCV001192615 RCV003477557 RCV003453092 RCV001249911

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

5 SubmittersRCV000132161 RCV000203804 RCV000480825 RCV003998134 RCV004567151

NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys)

SNV
Germline

Chr2:47804940

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012982

rs_587779264

7 SubmittersRCV000132174 RCV000541079 RCV001267890 RCV001174713 RCV002514752 RCV003462035

NM_000535.7(PMS2):c.1A>T (p.Met1Leu)

SNV
Germline

Chr7:6009019

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA010652

rs_587779333

9 SubmittersRCV000132181 RCV000500454 RCV000218553 RCV000527509 RCV003453093 RCV004806082

NM_000251.3(MSH2):c.116G>C (p.Arg39Pro)

SNV
Germline

Chr2:47403307

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017407

rs_587782759

7 SubmittersRCV000132280 RCV000800194 RCV000780435 RCV001753517 RCV003998140 RCV003462042

NM_000249.4(MLH1):c.117-2A>G

SNV
Germline

Chr3:36996617

Pathogenic

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

Reviewed By Expert Panel

CA004620

rs_267607712

7 SubmittersRCV000132299 RCV000200647 RCV003453096 RCV000780423 RCV000478069 RCV001255219

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

16 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
PMS2-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA011663

rs_587782787

7 SubmittersRCV000132336 RCV000469886 RCV002279947 RCV003894999 RCV003477560

NM_000251.3(MSH2):c.586C>T (p.Pro196Ser)

SNV
Germline

Chr2:47410313

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021484

rs_587782804

5 SubmittersRCV000132363 RCV003998144 RCV000629706 RCV004815197

NM_000179.3(MSH6):c.2147C>T (p.Thr716Ile)

SNV
Germline

Chr2:47800130

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009755

rs_587782805

7 SubmittersRCV000132365 RCV000411918 RCV000212659 RCV000468830 RCV003998145

NM_000249.4(MLH1):c.1489C>T (p.Arg497Trp)

SNV
Germline

Chr3:37028863

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA005559

rs_200830026

9 SubmittersRCV000132432 RCV000588886 RCV001535466 RCV000168002 RCV003998147 RCV004567155

NM_000535.7(PMS2):c.936G>A (p.Met312Ile)

SNV
Germline

Chr7:5992025

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013317

rs_139194813

13 SubmittersRCV000132451 RCV001270440 RCV000590247 RCV000662505 RCV001260258 RCV003415967 RCV001085599

NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)

SNV
Germline

Chr7:5991978

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013395

rs_587782852

13 SubmittersRCV000214828 RCV000226690 RCV000132452 RCV003390826 RCV000656944 RCV000411483 RCV000708988

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

Criteria Provided
Conflicting Classifications

CA011273

rs_150478207

14 SubmittersRCV000132489 RCV000200318 RCV000662374 RCV000480315 RCV001804854 RCV003398776 RCV003998148

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

Criteria Provided
Conflicting Classifications

CA009782

rs_537604099

7 SubmittersRCV000132526 RCV000469296 RCV001201355 RCV003462049 RCV003320574

NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser)

SNV
Germline

Chr2:47478436

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

CA020519

rs_587782891

9 SubmittersRCV000132529 RCV000540856 RCV000409026 RCV001650987 RCV001354926 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_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
Condition: not provided
EPCAM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA171016

rs_376155665

12 SubmittersRCV000144936 RCV000763487 RCV003654209 RCV004751287

NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)

SNV
Germline

Chr2:47475192

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Ovarian cancer
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 1
Condition: not provided
Lynch syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA019583

rs_374840361

12 SubmittersRCV000204646 RCV000148637 RCV000160596 RCV002509245 RCV004567167 RCV000589876 RCV003483522 RCV000765671 RCV003998170 RCV004532666

NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)

SNV
Germline

Chr2:47476564

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Ovarian cancer
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
MSH2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA020218

rs_2229061

11 SubmittersRCV000471467 RCV000588732 RCV000148638 RCV000411526 RCV000491584 RCV004532667 RCV001175338

NM_000535.7(PMS2):c.1144+1G>A

SNV
Germline

Chr7:5989799

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA009232

rs_373885654

9 SubmittersRCV000149895 RCV000213090 RCV001044002 RCV003453108 RCV002453477

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
Hereditary cancer-predisposing syndrome
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA022727

rs_547444746

10 SubmittersRCV000160647 RCV000410517 RCV000732070 RCV001850270 RCV003584558 RCV003998488 RCV004734755

NM_000251.3(MSH2):c.14C>T (p.Pro5Leu)

SNV
Germline

Chr2:47403205

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018467

rs_56170584

6 SubmittersRCV000160589 RCV002390391 RCV003325191 RCV000559215 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
MSH2-related disorder
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA021396

rs_141711342

15 SubmittersRCV000160635 RCV000409531 RCV000588459 RCV001084278 RCV001255213 RCV003323295 RCV004528902 RCV003492654

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

Criteria Provided
Conflicting Classifications

CA021613

rs_730881760

4 SubmittersRCV000160594 RCV000539963 RCV001025106 RCV003998475

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

Criteria Provided
Conflicting Classifications

CA017708

rs_730881766

9 SubmittersRCV000160605 RCV000212577 RCV000559519 RCV001192614 RCV003998479 RCV004567210

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
Carcinoma of colon
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA019673

rs_730881784

16 SubmittersRCV000160652 RCV000206199 RCV000212580 RCV000409186 RCV001354005 RCV001284171 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

6 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
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Condition: not provided
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021103

rs_730881768

12 SubmittersRCV000197978 RCV000217291 RCV000515278 RCV000590606 RCV000662843 RCV003330516 RCV003998481

NM_000251.3(MSH2):c.386C>G (p.Ser129Cys)

SNV
Germline

Chr2:47410113

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA021106

rs_587779972

9 SubmittersRCV000587688 RCV000492034 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
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021193

rs_149511545

11 SubmittersRCV000160612 RCV000212587 RCV000477198 RCV001002118 RCV004734754 RCV003444208

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
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021433

rs_141021599

11 SubmittersRCV000233177 RCV000410808 RCV000565216 RCV000590509 RCV001251062 RCV002478486 RCV003483528 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

Criteria Provided
Multiple Submitters
No Conflicts

CA021507

rs_587779166

4 SubmittersRCV000491751 RCV001212954 RCV003453269

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

Criteria Provided
Conflicting Classifications

CA022053

rs_730881773

9 SubmittersRCV000160625 RCV000473583 RCV000562874 RCV000663301 RCV004806115

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

Criteria Provided
Conflicting Classifications

CA022091

rs_199676483

15 SubmittersRCV000160626 RCV000198252 RCV000411135 RCV000491808 RCV000656873 RCV000708828

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

Criteria Provided
Conflicting Classifications

CA022219

rs_377403073

10 SubmittersRCV000160627 RCV000196535 RCV000491536 RCV000662661 RCV002265637

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

4 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

Criteria Provided
Conflicting Classifications

CA017431

rs_63750611

8 SubmittersRCV000160634 RCV000233011 RCV000491315 RCV001257466 RCV001269197 RCV003998485

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

Criteria Provided
Conflicting Classifications

CA017737

rs_189015988

6 SubmittersRCV000160644 RCV000410246 RCV000580774 RCV002053928

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

Criteria Provided
Conflicting Classifications

CA018560

rs_587782355

10 SubmittersRCV000160591 RCV000235175 RCV000548522 RCV001137232 RCV003998473 RCV004544469

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

7 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.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
Classic congenital adrenal hyperplasia 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
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020167

rs_63751125

5 SubmittersRCV000160603 RCV000492028 RCV003462091 RCV000629694 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

7 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

Criteria Provided
Conflicting Classifications

CA020697

rs_140754514

13 SubmittersRCV000160621 RCV000168241 RCV000235176 RCV000663089 RCV000656883 RCV004700494

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
Carcinoma of colon
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA020801

rs_730881772

12 SubmittersRCV000203841 RCV000565478 RCV000708846 RCV000759828 RCV001354344 RCV001193897 RCV003467250

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
not specified
Hereditary breast ovarian cancer syndrome
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015802

rs_730881813

12 SubmittersRCV000160711 RCV000217717 RCV000456306 RCV000781604 RCV001030488 RCV000986705 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

Criteria Provided
Conflicting Classifications

CA016346

rs_370157832

10 SubmittersRCV000160655 RCV000459365 RCV000568587 RCV001030489 RCV001270441 RCV003462092 RCV003230421

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
MSH6-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016522

rs_374486449

13 SubmittersRCV000160656 RCV000196039 RCV000235181 RCV000411901 RCV000781597 RCV002484996 RCV003462093 RCV004535042 RCV003998490

NM_000179.3(MSH6):c.979A>G (p.Thr327Ala)

SNV
Germline

Chr2:47798962

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016717

rs_730881814

6 SubmittersRCV000160712 RCV000214500 RCV000818095 RCV000499861 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

18 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
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA007915

rs_730881787

12 SubmittersRCV000160662 RCV000656893 RCV000780471 RCV000986713 RCV001082336 RCV003323296 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
Condition: not provided
Hereditary cancer-predisposing syndrome
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

16 SubmittersRCV000160665 RCV000206352 RCV000656894 RCV000565934 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
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA008320

rs_730881790

6 SubmittersRCV000160666 RCV000195871 RCV000563544 RCV003998492 RCV000780479

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

Criteria Provided
Conflicting Classifications

CA009015

rs_730881791

8 SubmittersRCV000160668 RCV000571101 RCV000560061 RCV000708869 RCV000767214

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

Criteria Provided
Conflicting Classifications

CA009270

rs_201613780

11 SubmittersRCV000196510 RCV000491442 RCV000589796 RCV000757926 RCV002271428

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
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA009314

rs_730881793

16 SubmittersRCV000160673 RCV000212653 RCV000304378 RCV000410091 RCV000524120 RCV001193697 RCV001798554 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

Criteria Provided
Conflicting Classifications

CA009504

rs_372916347

8 SubmittersRCV000160674 RCV000212655 RCV001083661 RCV002271429 RCV003998494

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

7 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

Criteria Provided
Conflicting Classifications

CA009720

rs_730881796

7 SubmittersRCV000160678 RCV000212658 RCV000542696 RCV001174633 RCV003467252 RCV004806121

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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009921

rs_545057945

6 SubmittersRCV000160679 RCV000772630 RCV000821022 RCV003998496

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

Criteria Provided
Conflicting Classifications

CA010074

rs_587779235

4 SubmittersRCV000160680 RCV000491573 RCV000659892 RCV001850271

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
not specified
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA010696

rs_730881798

11 SubmittersRCV000160683 RCV000205971 RCV000781587 RCV000759138 RCV001142302 RCV003462094 RCV003998497

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

12 SubmittersRCV000160724 RCV000491957 RCV000679230 RCV001084653 RCV001142303 RCV003998514

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.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
MSH6-related disorder
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA012035

rs_730881804

9 SubmittersRCV000232219 RCV000562784 RCV000587626 RCV003488409 RCV003998502 RCV004739506 RCV004567218

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
MSH6-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012890

rs_730881819

12 SubmittersRCV000160728 RCV000227561 RCV000410182 RCV000580444 RCV003477576 RCV004535044 RCV003998515

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

Criteria Provided
Conflicting Classifications

CA015325

rs_730881809

11 SubmittersRCV000160703 RCV000766290 RCV000576090 RCV000229406 RCV001798555 RCV003998506 RCV000663168 RCV003462097

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA005596

rs_730881744

4 SubmittersRCV000160546 RCV000776169 RCV003998467

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

Criteria Provided
Conflicting Classifications

CA012003

rs_56250509

11 SubmittersRCV000160527 RCV000411294 RCV000562377 RCV000525411 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
Lynch syndrome
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA012580

rs_146796765

15 SubmittersRCV000160556 RCV000212527 RCV000586205 RCV001145068 RCV001079243 RCV001798552 RCV003998468 RCV003952800

NM_000249.4(MLH1):c.1628A>G (p.His543Arg)

SNV
Germline

Chr3:37040255

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA006185

rs_730881742

9 SubmittersRCV000160537 RCV000212541 RCV000206589 RCV000409504 RCV001354460 RCV003998466

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
PMS2-related disorder
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA012744

rs_142434011

11 SubmittersRCV000160885 RCV000206870 RCV000587187 RCV000567432 RCV003927529 RCV003462102 RCV003998523

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

Criteria Provided
Conflicting Classifications

CA012608

rs_730881918

5 SubmittersRCV000160899 RCV001187146 RCV001354065 RCV003998527

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 4
Mismatch repair cancer syndrome 1
Lynch syndrome
PMS2-related disorder
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012229

rs_730881917

10 SubmittersRCV000160898 RCV000215633 RCV000465290 RCV000765966 RCV000758687 RCV003416029 RCV003454388

NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)

SNV
Germline

Chr7:6004007

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010938

rs_730881915

9 SubmittersRCV000168187 RCV000656942 RCV000567463 RCV000663221 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
Mismatch repair cancer syndrome 1
Lynch syndrome 4
PMS2-related disorder
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA011803

rs_587780059

15 SubmittersRCV000160895 RCV000212834 RCV000500749 RCV000781734 RCV000763593 RCV003407599 RCV004017444

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

9 SubmittersRCV000161937 RCV000164263 RCV000426588 RCV000627737 RCV001697086 RCV003998535 RCV004544474

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
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome 1
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA021770

rs_786201698

6 SubmittersRCV000164108 RCV000410088 RCV001346811 RCV001536270 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
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021282

rs_397515879

7 SubmittersRCV000165795 RCV000613219 RCV003995455 RCV000920244 RCV003477619

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

Criteria Provided
Conflicting Classifications

CA022180

rs_767747378

8 SubmittersRCV000164134 RCV000525136 RCV001193893 RCV001762365 RCV003462126 RCV003995317

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
Lynch syndrome 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA022338

rs_750746034

13 SubmittersRCV000164692 RCV000228123 RCV000235224 RCV003995359 RCV000412025 RCV001374485 RCV003226226 RCV003993847

NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)

SNV
Germline

Chr2:47403280

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

CA022507

rs_757892928

10 SubmittersRCV000164508 RCV000233615 RCV000411131 RCV001762369 RCV003114313 RCV004806131

NM_000251.3(MSH2):c.115C>A (p.Arg39=)

SNV
Germline

Chr2:47403306

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017385

rs_786202334

9 SubmittersRCV000233469 RCV000165094 RCV000427878 RCV001704201 RCV000663112 RCV003995390

NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)

SNV
Germline

Chr2:47403314

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA017623

rs_761960690

11 SubmittersRCV000228645 RCV000662660 RCV000166062 RCV001357474 RCV000589227 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

11 SubmittersRCV000164978 RCV000200570 RCV000663139 RCV000781570 RCV001589031 RCV003995379

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
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
not specified
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA021133

rs_193096019

13 SubmittersRCV000166792 RCV000546078 RCV002053989 RCV002267920 RCV002291583 RCV000997136 RCV001357296

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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA021161

rs_772052262

7 SubmittersRCV000166585 RCV000205937 RCV003995514 RCV000662555

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

Criteria Provided
Conflicting Classifications

CA021556

rs_63750600

10 SubmittersRCV000162431 RCV000281902 RCV000423282 RCV000524416 RCV001079211 RCV003995195 RCV004535052

NM_000251.3(MSH2):c.820A>G (p.Ile274Val)

SNV
Germline

Chr2:47414296

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022377

rs_371944271

13 SubmittersRCV000167160 RCV000663108 RCV000198455 RCV004535135 RCV000587804 RCV001248898 RCV003995565

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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA022638

rs_773301485

10 SubmittersRCV000167081 RCV000588197 RCV000199307 RCV003995555 RCV003468799

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
Lynch syndrome 1
MSH2-related disorder
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022667

rs_63750732

11 SubmittersRCV000166896 RCV000472836 RCV000662856 RCV004535130 RCV000590192 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.1166G>A (p.Arg389Gln)

SNV
Germline

Chr2:47429831

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017397

rs_757276241

6 SubmittersRCV000167351 RCV000629828 RCV003444210 RCV003329248

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.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.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

Criteria Provided
Conflicting Classifications

CA019215

rs_786202843

6 SubmittersRCV000165870 RCV000204380 RCV000759825 RCV003995461

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

3 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
Lynch syndrome
not specified
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA019316

rs_548407418

14 SubmittersRCV000162476 RCV000167995 RCV000409730 RCV000480972 RCV000708834 RCV000781560 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

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

Criteria Provided
Conflicting Classifications

CA019442

rs_786203744

9 SubmittersRCV000662377 RCV000167180 RCV000195465 RCV003995571 RCV004700515 RCV001721089

NM_000251.3(MSH2):c.1863A>T (p.Arg621=)

SNV
Germline

Chr2:47475128

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019465

rs_786203119

7 SubmittersRCV000166283 RCV001083110 RCV000679298 RCV003995496

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

Criteria Provided
Conflicting Classifications

CA019596

rs_63750078

4 SubmittersRCV000165743 RCV000529191 RCV003332132 RCV004567283

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.2038C>G (p.Arg680Gly)

SNV
Germline

Chr2:47476399

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019866

rs_63749932

8 SubmittersRCV000165747 RCV000693732 RCV004567284 RCV000589676 RCV003995449

NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)

SNV
Germline

Chr2:47476451

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Breast and/or ovarian cancer
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA019995

rs_63750398

5 SubmittersRCV000167253 RCV000490613 RCV001270946 RCV000817438

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

6 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
Malignant tumor of breast
Breast and/or ovarian cancer
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020386

rs_56076152

14 SubmittersRCV000163040 RCV000759113 RCV001080852 RCV001140259 RCV001358733 RCV001357863 RCV001798566 RCV003995227 RCV004535062

NM_000251.3(MSH2):c.2296A>G (p.Ile766Val)

SNV
Germline

Chr2:47478357

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

CA020456

rs_374399939

7 SubmittersRCV000165690 RCV000202197 RCV000798203 RCV000766654 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
Condition: not provided
not specified
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020494

rs_200252727

10 SubmittersRCV000165012 RCV000196615 RCV000587565 RCV000522265 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

Criteria Provided
Conflicting Classifications

CA020680

rs_747700106

8 SubmittersRCV000166329 RCV000232782 RCV001194027 RCV001594863 RCV003995501

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

4 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
Malignant tumor of breast
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA020901

rs_587780687

5 SubmittersRCV000167178 RCV001356340 RCV003995570 RCV000706985

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
Mismatch repair cancer syndrome 1
Carcinoma of colon
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
MSH6-related disorder
Breast and/or ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA008028

rs_786201042

21 SubmittersRCV000162425 RCV000202232 RCV000199142 RCV000202528 RCV001254934 RCV001353573 RCV002478495 RCV000524100 RCV003462113 RCV004528905 RCV001798562

NM_000179.3(MSH6):c.33C>G (p.Phe11Leu)

SNV
Germline

Chr2:47783266

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012766

rs_747802641

8 SubmittersRCV000166008 RCV000679237 RCV003995471 RCV001264551 RCV001085290 RCV004739532

NM_000179.3(MSH6):c.43C>T (p.Pro15Ser)

SNV
Germline

Chr2:47783276

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015522

rs_776745497

6 SubmittersRCV001795287 RCV000164343 RCV000793874 RCV004806129 RCV003462130

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
not specified
Lynch syndrome 5
Carcinoma of colon
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA008685

rs_768803986

14 SubmittersRCV000163365 RCV000679215 RCV001087499 RCV001192486 RCV001139579 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

Criteria Provided
Conflicting Classifications

CA008708

rs_374597395

7 SubmittersRCV000166759 RCV000203855 RCV001358151 RCV001548024 RCV002281987

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

Criteria Provided
Conflicting Classifications

CA010396

rs_587779242

7 SubmittersRCV000163956 RCV000421645 RCV000544230 RCV003235081 RCV003995299

NM_000179.3(MSH6):c.333C>T (p.Tyr111=)

SNV
Germline

Chr2:47790999

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012642

rs_786202772

11 SubmittersRCV000165755 RCV000226058 RCV000410069 RCV000524171 RCV000609107 RCV001706084

NM_000179.3(MSH6):c.423C>G (p.Gly141=)

SNV
Germline

Chr2:47791089

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015480

rs_777587467

3 SubmittersRCV000163223 RCV000986703 RCV001850288

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
Lynch syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA016402

rs_764870249

7 SubmittersRCV000164341 RCV000469980 RCV003995335 RCV001775642 RCV002228583

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

Criteria Provided
Conflicting Classifications

CA016611

rs_765237563

13 SubmittersRCV000165781 RCV000168235 RCV000588989 RCV000758602 RCV003320582 RCV003468757

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

Criteria Provided
Conflicting Classifications

CA016745

rs_369568820

10 SubmittersRCV000164123 RCV000204780 RCV000479969 RCV003137692 RCV003150013 RCV004528909 RCV003995316

NM_000179.3(MSH6):c.989C>A (p.Ser330Ter)

SNV
Germline

Chr2:47798972

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA016771

rs_786202848

4 SubmittersRCV000165878 RCV001382641 RCV003454409 RCV003468759

NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe)

SNV
Germline

Chr2:47799020

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007847

rs_567785169

10 SubmittersRCV000167468 RCV000229553 RCV000454816 RCV000524097 RCV000657019 RCV000662908

NM_000179.3(MSH6):c.1170T>C (p.Asp390=)

SNV
Germline

Chr2:47799153

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008223

rs_55882234

10 SubmittersRCV000165797 RCV000662624 RCV004535119 RCV001311927 RCV000228538 RCV000602595

NM_000179.3(MSH6):c.1238G>A (p.Trp413Ter)

SNV
Germline

Chr2:47799221

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA008349

rs_786201049

5 SubmittersRCV000162446 RCV001044962 RCV001357169 RCV003454390 RCV003233476

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
Lynch syndrome 5
Lynch syndrome
Hereditary nonpolyposis colon cancer
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA008453

rs_750528093

11 SubmittersRCV000162486 RCV000479506 RCV000553513 RCV000500646 RCV003454393 RCV003995199 RCV004525833 RCV000582500

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

Criteria Provided
Conflicting Classifications

CA008774

rs_786201471

9 SubmittersRCV000163707 RCV000205874 RCV000614181 RCV001707544 RCV003995275 RCV004739511

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

Criteria Provided
Conflicting Classifications

CA009101

rs_768854566

9 SubmittersRCV000164895 RCV001037948 RCV000663227 RCV002255308 RCV002281982 RCV003995375 RCV004567256

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

Criteria Provided
Conflicting Classifications

CA009223

rs_786201210

6 SubmittersRCV000163091 RCV000458721 RCV001721034 RCV003995233

NM_000179.3(MSH6):c.1844G>T (p.Cys615Phe)

SNV
Germline

Chr2:47799827

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009321

rs_730881793

10 SubmittersRCV000165560 RCV002469035 RCV000168072 RCV000479956 RCV003462180 RCV003995427

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

Criteria Provided
Conflicting Classifications

CA009445

rs_143517321

12 SubmittersRCV000164891 RCV000200231 RCV000480270 RCV000524126 RCV000781602 RCV001094683 RCV003462152 RCV004528912

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
not specified
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009788

rs_759403696

6 SubmittersRCV000166842 RCV001041140 RCV001797654 RCV001552358 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
not specified
Endometrial carcinoma
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA009966

rs_561198849

11 SubmittersRCV000163700 RCV000480884 RCV000662379 RCV002307420 RCV003462122 RCV003995273 RCV000630065

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

Criteria Provided
Conflicting Classifications

CA010219

rs_770992427

9 SubmittersRCV000162791 RCV000178055 RCV000590110 RCV001082493 RCV003995219

NM_000179.3(MSH6):c.2550C>A (p.Tyr850Ter)

SNV
Germline

Chr2:47800533

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA010381

rs_374230313

2 SubmittersRCV000166285 RCV003454413

NM_000179.3(MSH6):c.2624T>C (p.Met875Thr)

SNV
Germline

Chr2:47800607

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010617

rs_774774596

10 SubmittersRCV003462138 RCV000164528 RCV000205577 RCV000662485 RCV002271437 RCV004739521 RCV004806132 RCV001580460

NM_000179.3(MSH6):c.2701C>T (p.Arg901Cys)

SNV
Germline

Chr2:47800684

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010754

rs_772514245

6 SubmittersRCV000456613 RCV000166149 RCV001775649 RCV003995483 RCV003462201

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

7 SubmittersRCV000165958 RCV000214010 RCV000473325 RCV001526922 RCV003468765 RCV003995466

NM_000179.3(MSH6):c.2950A>C (p.Asn984His)

SNV
Germline

Chr2:47800933

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011176

rs_146359682

14 SubmittersRCV000166094 RCV000206584 RCV000662779 RCV000524150 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
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Condition: not provided
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA011202

rs_746631156

12 SubmittersRCV000166654 RCV000198691 RCV000214752 RCV000764425 RCV000767216 RCV000662610 RCV004567308

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

Criteria Provided
Conflicting Classifications

CA011594

rs_773357672

7 SubmittersRCV000165541 RCV000410356 RCV000483409 RCV000685194 RCV002267913

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

4 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
Lynch syndrome
Condition: not provided
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA012072

rs_779617676

11 SubmittersRCV000165943 RCV000198283 RCV000202247 RCV000758680 RCV000588416 RCV003462194

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

18 SubmittersRCV000163801 RCV000202109 RCV000410558 RCV000724321 RCV001085889 RCV001798576 RCV003995283 RCV004535083

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.3478G>A (p.Val1160Ile)

SNV
Germline

Chr2:47804949

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013029

rs_376799914

15 SubmittersRCV000201982 RCV000410385 RCV000165060 RCV000656900 RCV004739524 RCV001082754 RCV003323297

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

Criteria Provided
Conflicting Classifications

CA013053

rs_376799914

9 SubmittersRCV000164110 RCV000466573 RCV000506000 RCV000589252 RCV000663282

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

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

Criteria Provided
Conflicting Classifications

CA014374

rs_201080919

13 SubmittersRCV000411771 RCV000166530 RCV000587152 RCV000203730 RCV000524188 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.4002-4T>C

SNV
Germline

Chr2:47806775

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015278

rs_370428032

10 SubmittersRCV000164128 RCV000458512 RCV000412285 RCV000859424 RCV001721060 RCV004535094

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
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA013506

rs_779759678

9 SubmittersRCV000165278 RCV000459216 RCV002291579 RCV003995409 RCV000483373 RCV001193240

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
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA010475

rs_776969475

10 SubmittersRCV000165547 RCV000473875 RCV001569830 RCV003398846 RCV003462179 RCV003995426 RCV003153446

NM_000249.4(MLH1):c.678A>T (p.Arg226=)

SNV
Germline

Chr3:37014432

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011645

rs_786203360

4 SubmittersRCV000166637 RCV000831367 RCV003758708 RCV003995520

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

14 SubmittersRCV000163166 RCV000202192 RCV000409697 RCV000558825 RCV000587335 RCV003995237 RCV004748610

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

Criteria Provided
Conflicting Classifications

CA004353

rs_201673334

10 SubmittersRCV000162449 RCV000483837 RCV000476166 RCV000758575 RCV003462116

NM_000249.4(MLH1):c.1104G>A (p.Ser368=)

SNV
Germline

Chr3:37025702

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004360

rs_769364808

13 SubmittersRCV000163950 RCV000200033 RCV000432066 RCV000411033 RCV000524222 RCV001284000

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

Criteria Provided
Conflicting Classifications

CA004380

rs_766904735

12 SubmittersRCV000166495 RCV000226857 RCV000484742 RCV000662540 RCV000764487 RCV000708919

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
Lynch syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA004669

rs_35164771

7 SubmittersRCV000165602 RCV000536405 RCV003995438 RCV001709508 RCV001193242

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

Criteria Provided
Conflicting Classifications

CA004803

rs_369576099

6 SubmittersRCV000163670 RCV000943642 RCV001147917 RCV001704174 RCV003995269

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
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA005379

rs_63750498

8 SubmittersRCV000162406 RCV000541695 RCV000588918 RCV003467275 RCV003998540 RCV004748609

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
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified

Criteria Provided
Conflicting Classifications

CA005635

rs_771044689

13 SubmittersRCV000164523 RCV000205482 RCV000481882 RCV000708926 RCV000663072 RCV001526980

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

SNV
Germline/somatic

Chr3:37028936

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA005849

rs_531873434

6 SubmittersRCV000199499 RCV000167439 RCV000758645 RCV000418566 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
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA005977

rs_587779953

9 SubmittersRCV000167029 RCV000459950 RCV000764494 RCV000521886 RCV000663082 RCV003995549 RCV003987389

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

6 SubmittersRCV000165205 RCV000547299 RCV001149458 RCV003995403 RCV004596086

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
not specified
Familial cancer of breast
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA006285

rs_63751596

8 SubmittersRCV000164556 RCV000822496 RCV001193962 RCV002463655 RCV003477610 RCV004806133

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
MLH1-related disorder
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA006676

rs_567838745

12 SubmittersRCV000165449 RCV000420605 RCV000662457 RCV000759810 RCV003975235 RCV003995418 RCV001084862

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

Criteria Provided
Conflicting Classifications

CA006853

rs_769239969

5 SubmittersRCV000164192 RCV000685901 RCV003441761 RCV003995322

NM_000249.4(MLH1):c.2094A>G (p.Ser698=)

SNV
Germline

Chr3:37049008

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008580

rs_786202433

7 SubmittersRCV000226776 RCV000165242 RCV000420728 RCV003995408

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
Lynch syndrome 4
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA011600

rs_786201039

6 SubmittersRCV000162416 RCV000657711 RCV001066692 RCV003454389 RCV003317111

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

Criteria Provided
Conflicting Classifications

CA011510

rs_753199796

11 SubmittersRCV000163748 RCV000859086 RCV001084869 RCV000987819 RCV001420820 RCV003492679

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
Lynch syndrome
Condition: not provided
not specified
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA011316

rs_553286217

12 SubmittersRCV000165312 RCV000230774 RCV001354621 RCV000767022 RCV000222502 RCV000662655

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
Lynch syndrome
not specified
Endometrial carcinoma
Mismatch repair cancer syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010984

rs_150630090

11 SubmittersRCV000164743 RCV000206423 RCV000410095 RCV000761045 RCV000781746 RCV001358129 RCV004786458 RCV000486892

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

Criteria Provided
Multiple Submitters
No Conflicts

CA010597

rs_778531080

5 SubmittersRCV000165222 RCV001201579 RCV003454403 RCV004721281

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

9 SubmittersRCV000163931 RCV000196833 RCV000436373 RCV000587189 RCV001084012 RCV003995296

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

Criteria Provided
Conflicting Classifications

CA010161

rs_63751211

13 SubmittersRCV000163099 RCV000199342 RCV000410142 RCV000512920 RCV000781750 RCV003149997 RCV003407602 RCV003995234

NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)

SNV
Germline

Chr7:5987051

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010143

rs_63751023

11 SubmittersRCV000165566 RCV000662642 RCV001193214 RCV000513405 RCV003150024 RCV003483538 RCV003995430

NM_000535.7(PMS2):c.1693T>G (p.Leu565Val)

SNV
Germline

Chr7:5987072

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010085

rs_786202870

4 SubmittersRCV000165917 RCV000415672 RCV000480451 RCV000531904

NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly)

SNV
Germline

Chr7:5987188

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009897

rs_143235330

8 SubmittersRCV000166743 RCV000780624 RCV000483914 RCV000462922 RCV004567313

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
Mismatch repair cancer syndrome 1
not specified
Breast and/or ovarian cancer
Lynch syndrome 4
Condition: not provided
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009861

rs_63751300

16 SubmittersRCV000164554 RCV000200307 RCV000515358 RCV000781744 RCV001798585 RCV000411039 RCV000486349 RCV003338434 RCV003995349

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

Criteria Provided
Conflicting Classifications

CA009797

rs_63751028

5 SubmittersRCV000165919 RCV000532007 RCV001775646 RCV003995464

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
not specified
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009665

rs_144389038

9 SubmittersRCV000166020 RCV000423126 RCV000987830 RCV000200794 RCV001721076 RCV001354397 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

Criteria Provided
Conflicting Classifications

CA009646

rs_786203427

5 SubmittersRCV000166727 RCV000630121 RCV002466458 RCV003995528

NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg)

SNV
Germline

Chr7:5987371

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009618

rs_141084758

8 SubmittersRCV000546976 RCV000165567 RCV000662635 RCV003995431 RCV004794370

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
Lynch syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA009556

rs_748698776

9 SubmittersRCV000167069 RCV000226423 RCV003995554 RCV001753568 RCV000454673

NM_000535.7(PMS2):c.1344A>T (p.Gly448=)

SNV
Germline

Chr7:5987421

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009531

rs_759192470

9 SubmittersRCV000164596 RCV000442013 RCV000998766 RCV003995352 RCV000229726

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

Criteria Provided
Conflicting Classifications

CA009478

rs_112902065

9 SubmittersRCV000206128 RCV000164844 RCV000433523 RCV001358227 RCV000987833 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
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009455

rs_756883400

12 SubmittersRCV000164345 RCV000234512 RCV000524430 RCV000486789 RCV000657013

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

Criteria Provided
Conflicting Classifications

CA009278

rs_755578413

13 SubmittersRCV000164461 RCV000232574 RCV000781743 RCV001080100 RCV001162266 RCV003150016

NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)

SNV
Germline

Chr7:5989864

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009178

rs_567102013

12 SubmittersRCV000165734 RCV000411319 RCV000656945 RCV000217127 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
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Breast and/or ovarian cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA013345

rs_116314131

18 SubmittersRCV000163216 RCV000197131 RCV000412322 RCV000524485 RCV000679365 RCV000780629 RCV002492646 RCV003492673 RCV003389705

NM_000535.7(PMS2):c.924G>C (p.Glu308Asp)

SNV
Germline

Chr7:5992037

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013290

rs_114185660

14 SubmittersRCV000165430 RCV000471981 RCV000481332 RCV001356004 RCV001798589 RCV003462172 RCV001193854 RCV003995415

NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)

SNV
Germline

Chr7:5995628

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA012910

rs_786201047

10 SubmittersRCV000162437 RCV000657645 RCV000629674 RCV001262168 RCV001192582

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
PMS2-related disorder
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA012753

rs_573125799

15 SubmittersRCV000162412 RCV000168447 RCV000413496 RCV000627717 RCV003407601 RCV003147375

NM_000535.7(PMS2):c.735G>T (p.Leu245=)

SNV
Germline

Chr7:5997394

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012689

rs_373366661

7 SubmittersRCV000166111 RCV001087207 RCV000828397 RCV003235086 RCV003995480

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

Criteria Provided
Conflicting Classifications

CA012533

rs_786201508

6 SubmittersRCV000163775 RCV000659069 RCV001084511 RCV003995281

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

Criteria Provided
Conflicting Classifications

CA012356

rs_372297364

15 SubmittersRCV000167249 RCV000233931 RCV000410857 RCV000512735 RCV000722125 RCV000758686 RCV003927555

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
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA011977

rs_760615315

9 SubmittersRCV000165593 RCV000587468 RCV000630377 RCV003150025 RCV003479038 RCV003995437

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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA011940

rs_786202098

9 SubmittersRCV000164744 RCV000759205 RCV000552914 RCV003454400 RCV003995362

NM_000535.7(PMS2):c.251-2A>T

SNV
Germline

Chr7:6003794

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA011631

rs_587779340

18 SubmittersRCV000162757 RCV000205731 RCV000216802 RCV000515494 RCV000524468 RCV001255210 RCV000763591 RCV003149993 RCV004742289

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

9 SubmittersRCV000165585 RCV000484767 RCV000576564 RCV000792721 RCV003995434

NM_000535.7(PMS2):c.89A>G (p.Gln30Arg)

SNV
Germline

Chr7:6005966

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013191

rs_56203955

10 SubmittersRCV000164904 RCV000482199 RCV000198290 RCV000410641 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

5 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
Lynch syndrome 1
Malignant tumor of breast
Breast and/or ovarian cancer
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA021742

rs_372619120

13 SubmittersRCV000213945 RCV000417652 RCV000986642 RCV001358277 RCV003491920 RCV000759120 RCV001083940

NM_000251.3(MSH2):c.174C>A (p.Phe58Leu)

SNV
Germline

Chr2:47403365

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019166

rs_372189599

8 SubmittersRCV000508172 RCV003468832 RCV000568410 RCV000168388 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

Criteria Provided
Conflicting Classifications

CA022616

rs_786204185

5 SubmittersRCV000168245 RCV001019487 RCV003995617

NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala)

SNV
Germline

Chr2:47416423

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017027

rs_150503781

11 SubmittersRCV000168008 RCV001553594 RCV000236761 RCV003995602 RCV000568153 RCV000662371

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 cancer-predisposing syndrome
Condition: not provided
Colorectal cancer
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020496

rs_200252727

11 SubmittersRCV000213407 RCV000589584 RCV000735967 RCV000168313 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 cancer-predisposing syndrome
Condition: not provided
not specified
Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA015812

rs_786204186

12 SubmittersRCV000220140 RCV000759151 RCV000781571 RCV001355537 RCV000168249 RCV000411795 RCV003995618 RCV003468827

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
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA016673

rs_188252826

8 SubmittersRCV000168389 RCV000220509 RCV000656996 RCV003995626 RCV003316071

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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA009870

rs_786204071

8 SubmittersRCV000167959 RCV000409734 RCV000491880 RCV000759851 RCV003995600 RCV003468820

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
Condition: not provided
Endometrial carcinoma
Lynch syndrome
Lynch syndrome 5
not specified

Criteria Provided
Conflicting Classifications

CA015307

rs_786204130

11 SubmittersRCV000168100 RCV000213342 RCV001800508 RCV003462256 RCV003995607 RCV000663216 RCV003987391

NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn)

SNV
Germline

Chr3:37025957

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA005076

rs_756099600

8 SubmittersRCV000167968 RCV000590046 RCV004567360 RCV000214998 RCV003995601

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

7 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

10 SubmittersRCV000168273 RCV000486825 RCV000574365 RCV003468829 RCV003995619 RCV004668829

NM_000535.7(PMS2):c.1819G>A (p.Val607Ile)

SNV
Germline

Chr7:5986946

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010297

rs_786204109

6 SubmittersRCV000482215 RCV000168042 RCV000562276 RCV003995603 RCV004786481

NM_000535.7(PMS2):c.433C>A (p.Gln145Lys)

SNV
Germline

Chr7:6002557

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012095

rs_786204133

7 SubmittersRCV000168105 RCV000585952 RCV000222089 RCV003995608

NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)

SNV
Germline

Chr2:47475249

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA019647

rs_786204321

6 SubmittersRCV000168729 RCV000480108 RCV001192611 RCV001239760 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

4 SubmittersRCV000168716 RCV000692531 RCV002415716 RCV003454426

NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)

SNV
Germline/somatic

Chr7:5978689

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Lynch syndrome
Lynch syndrome 1
not specified
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA011001

rs_141893001

11 SubmittersRCV000555261 RCV000567860 RCV001798624 RCV000758628 RCV000172820 RCV000239355 RCV001357402 RCV004706609

NM_000535.7(PMS2):c.2002A>G (p.Ile668Val)

SNV
Germline

Chr7:5986763

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA358701

rs_869320619

7 SubmittersRCV000172908 RCV000630142 RCV001284205 RCV001804905 RCV001179765 RCV003454446

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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA016385

rs_63749980

7 SubmittersRCV000178052 RCV000215538 RCV000226497 RCV003996572 RCV004567381

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
Lynch syndrome 1
not specified
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038898

rs_765489269

9 SubmittersRCV000197496 RCV000579889 RCV000662894 RCV000780448 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
not specified
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA027308

rs_751431238

10 SubmittersRCV000200127 RCV000564423 RCV000765666 RCV001589078 RCV003155118 RCV003316110 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

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

Criteria Provided
Conflicting Classifications

CA031537

rs_730881777

10 SubmittersRCV000199035 RCV000235488 RCV000412070 RCV000566201 RCV003323451 RCV003997014

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

Criteria Provided
Conflicting Classifications

CA339026

rs_755920849

15 SubmittersRCV000199994 RCV000410314 RCV000485278 RCV000490871 RCV000767061 RCV003997017

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

Criteria Provided
Conflicting Classifications

CA033486

rs_754824872

6 SubmittersRCV000195748 RCV000579733 RCV002307442 RCV003997018

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
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035050

rs_267608003

12 SubmittersRCV000236903 RCV000410446 RCV000590535 RCV000771124 RCV001080259 RCV003491944 RCV003997015

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
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
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
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA035514

rs_767520406

9 SubmittersRCV000198539 RCV000569330 RCV002273983 RCV002288815 RCV003462325 RCV003493487 RCV003997020

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

Criteria Provided
Conflicting Classifications

CA037340

rs_34319539

8 SubmittersRCV000198941 RCV000223226 RCV000235290 RCV000412048 RCV003997023

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

Criteria Provided
Conflicting Classifications

CA336718

rs_863224628

10 SubmittersRCV000196789 RCV000575547 RCV000662898 RCV001564528 RCV003150088 RCV003462323 RCV003997002

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338295

rs_863224615

5 SubmittersRCV000198916 RCV000570887 RCV003996992 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
Endometrial carcinoma
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA337552

rs_863224616

7 SubmittersRCV000197947 RCV000575386 RCV000765677 RCV004567424 RCV003996993

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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA338570

rs_863224621

9 SubmittersRCV000199329 RCV000445836 RCV001589077 RCV003996997 RCV004567426

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

Criteria Provided
Conflicting Classifications

CA073560

rs_55760494

10 SubmittersRCV000214218 RCV000199066 RCV000586061 RCV003462324 RCV002267932 RCV003491942 RCV003997003

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
Lynch syndrome 5
Mismatch repair cancer syndrome 1
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

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA337394

rs_863224614

4 SubmittersRCV000485339 RCV001312494 RCV002381687 RCV003454502

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.1894A>G (p.Lys632Glu)

SNV
Germline

Chr2:47799877

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA068250

rs_755847154

10 SubmittersRCV000198361 RCV000213164 RCV000411644 RCV001357273 RCV000781573 RCV001580468 RCV003996996

NM_000179.3(MSH6):c.2318T>C (p.Leu773Pro)

SNV
Germline

Chr2:47800301

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA337352

rs_863224623

3 SubmittersRCV001190573 RCV001313045 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
Endometrial carcinoma
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA070049

rs_181727939

9 SubmittersRCV000199786 RCV000215044 RCV001194335 RCV003996999 RCV004567427 RCV004725055 RCV003491941

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.3705T>C (p.Leu1235=)

SNV
Germline

Chr2:47806262

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA339009

rs_545552712

9 SubmittersRCV000199972 RCV000561429 RCV000524184 RCV001284019 RCV001824679 RCV003996955 RCV004739582

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

Criteria Provided
Conflicting Classifications

CA038485

rs_138705565

11 SubmittersRCV000197307 RCV000573727 RCV000587717 RCV000662868 RCV003997011

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

11 SubmittersRCV000195882 RCV000216499 RCV000412186 RCV000587282 RCV003997006

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

Criteria Provided
Conflicting Classifications

CA338369

rs_376018314

7 SubmittersRCV000199056 RCV000587224 RCV000662636 RCV003150086 RCV003477659 RCV003584561

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
not specified
Lynch syndrome 4
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA045451

rs_63750770

9 SubmittersRCV000199546 RCV000218135 RCV001544673 RCV003320596 RCV003462329 RCV003491945

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.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

Criteria Provided
Conflicting Classifications

CA044339

rs_370236216

7 SubmittersRCV000199090 RCV000221963 RCV000486619 RCV000780620 RCV000987826

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

7 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

Criteria Provided
Conflicting Classifications

CA052531

rs_530021751

8 SubmittersRCV000563510 RCV000588576 RCV001081365 RCV001357920 RCV003479057 RCV003996962

NM_000535.7(PMS2):c.537+1G>A

SNV
Germline

Chr7:6002452

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
PMS2-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339064

rs_863224450

6 SubmittersRCV002345713 RCV003454495 RCV002485315 RCV001377722 RCV004725052 RCV004786533

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279694

rs_863225397

6 SubmittersRCV000202050 RCV000491505 RCV000703166 RCV001257468

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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279693

rs_863225387

6 SubmittersRCV000202046 RCV000490844 RCV003593936 RCV003454514

NM_000251.3(MSH2):c.1276+2T>C

SNV
Germline/somatic

Chr2:47429943

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA027509

rs_267607953

10 SubmittersRCV000202216 RCV000460835 RCV000576479 RCV000492023

NM_000251.3(MSH2):c.1481C>G (p.Ser494Ter)

SNV
Germline

Chr2:47463125

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA248506

rs_370970617

3 SubmittersRCV000202035 RCV000694104 RCV003454517

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

7 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

not specified
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon

Reviewed By Expert Panel

CA279731

rs_863225404

5 SubmittersRCV000202089 RCV000501351 RCV000491378 RCV001039124 RCV001353871

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

SNV
Germline

Chr3:36993668

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

Criteria Provided
Conflicting Classifications

CA027435

rs_267607710

12 SubmittersRCV000202146 RCV000561710 RCV000630192 RCV000663218 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
Lynch syndrome 5
Endometrial carcinoma
Condition: not provided

Reviewed By Expert Panel

CA350757

rs_864622041

8 SubmittersRCV000206750 RCV000215362 RCV000471873 RCV003454537 RCV003462359 RCV003477675

NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro)

SNV
Germline

Chr3:37042276

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

CA348372

rs_63750059

5 SubmittersRCV000204126 RCV000522242 RCV002399757 RCV003454536 RCV001853279

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
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039073

rs_63750843

10 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

Criteria Provided
Conflicting Classifications

CA348791

rs_864622381

8 SubmittersRCV000204572 RCV000568612 RCV000615464 RCV003997612 RCV004998429

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

Criteria Provided
Conflicting Classifications

CA039588

rs_763298811

7 SubmittersRCV000204214 RCV000565649 RCV001556775 RCV003315421 RCV003997641

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
not specified
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA039878

rs_267607930

12 SubmittersRCV000203689 RCV000565426 RCV000662873 RCV001722122 RCV001798681 RCV003235128 RCV003997616 RCV004530227

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

Criteria Provided
Conflicting Classifications

CA349912

rs_139891783

8 SubmittersRCV000205795 RCV000481152 RCV000657148 RCV001180058 RCV003997604

NM_000251.3(MSH2):c.842C>G (p.Ser281Ter)

SNV
Germline

Chr2:47414318

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA349474

rs_63749991

4 SubmittersRCV000205315 RCV000491522 RCV003155123 RCV003454542

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

Criteria Provided
Conflicting Classifications

CA027026

rs_774539871

7 SubmittersRCV000206649 RCV000216074 RCV001582711 RCV003462383 RCV003997643

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

7 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
Breast and/or ovarian cancer
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA348608

rs_864622079

9 SubmittersRCV000204365 RCV000478447 RCV000570070 RCV001193995 RCV003150090 RCV003462360 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

7 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
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA031475

rs_748797209

10 SubmittersRCV000205416 RCV000235312 RCV000221565 RCV000663070 RCV001356036 RCV003997576

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

Criteria Provided
Conflicting Classifications

CA350189

rs_864622093

8 SubmittersRCV000206123 RCV000519579 RCV000562458 RCV001201177 RCV003997560 RCV004567449

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
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA034373

rs_752883472

5 SubmittersRCV000206475 RCV001181937 RCV003468962 RCV003230453

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

Criteria Provided
Conflicting Classifications

CA349143

rs_373393954

9 SubmittersRCV000204953 RCV000565136 RCV000662576 RCV001558974 RCV003997640

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

7 SubmittersRCV000204877 RCV000491044 RCV001570632 RCV003997603 RCV004734856

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
Lynch syndrome 5
Mismatch repair cancer syndrome 1
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
Lynch syndrome 5
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069427

rs_762818044

9 SubmittersRCV000204000 RCV000662780 RCV000587576 RCV000491184 RCV003997628

NM_000179.3(MSH6):c.361C>T (p.Arg121Cys)

SNV
Germline

Chr2:47791027

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA071503

rs_763593669

12 SubmittersRCV000205461 RCV000483247 RCV000662497 RCV000567183 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

Criteria Provided
Conflicting Classifications

CA073299

rs_765195534

6 SubmittersRCV000204219 RCV000216919 RCV000588780 RCV003997621

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

Criteria Provided
Conflicting Classifications

CA073402

rs_762168786

10 SubmittersRCV000204923 RCV001026289 RCV000485879 RCV000657010 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
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067228

rs_770386388

9 SubmittersRCV000204403 RCV000519465 RCV000574858 RCV002243887 RCV003462366 RCV003997568

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

3 SubmittersRCV000206852 RCV000491980 RCV003454546

NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)

SNV
Germline

Chr2:47799674

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA349097

rs_864622153

9 SubmittersRCV000204908 RCV000491176 RCV000481005 RCV000576302 RCV001270947 RCV004530217

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

Criteria Provided
Conflicting Classifications

CA068049

rs_61748081

4 SubmittersRCV001012760 RCV001360388 RCV003997648

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
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068506

rs_373418713

9 SubmittersRCV000205525 RCV000214718 RCV000985830 RCV002254688 RCV003993891 RCV004567469 RCV003997625

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.3312T>A (p.Phe1104Leu)

SNV
Germline

Chr2:47803559

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA070677

rs_773955368

14 SubmittersRCV000206715 RCV000508319 RCV000571369 RCV000663075 RCV000985259 RCV003468963 RCV004528997

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

12 SubmittersRCV000206593 RCV000429486 RCV000491525 RCV001086511 RCV001137559 RCV003997659

NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg)

SNV
Germline

Chr2:47803678

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA350840

rs_864622607

5 SubmittersRCV000220316 RCV000206842 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

8 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
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA348626

rs_864622748

6 SubmittersRCV000204393 RCV001020770 RCV000781594 RCV000662541

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

Criteria Provided
Conflicting Classifications

CA350752

rs_864622195

4 SubmittersRCV000206747 RCV000438354 RCV000662918

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

Criteria Provided
Conflicting Classifications

CA349759

rs_864622400

9 SubmittersRCV000205628 RCV000481950 RCV000562735 RCV000662811 RCV002247633 RCV003997619

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

Criteria Provided
Conflicting Classifications

CA072431

rs_780187989

10 SubmittersRCV000205455 RCV000217289 RCV000519500 RCV001711360 RCV003997660

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

Criteria Provided
Conflicting Classifications

CA072767

rs_778957100

8 SubmittersRCV000205656 RCV000579624 RCV001354582 RCV001711614 RCV002267938 RCV003997591

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

Criteria Provided
Conflicting Classifications

CA349361

rs_35225190

9 SubmittersRCV000205167 RCV000445067 RCV000571731 RCV001284648 RCV003897445 RCV003997605

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

Criteria Provided
Conflicting Classifications

CA027194

rs_759868546

8 SubmittersRCV000206536 RCV000411042 RCV001009894 RCV001174565 RCV003997595

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

Criteria Provided
Conflicting Classifications

CA028060

rs_377433038

10 SubmittersRCV000206553 RCV000485106 RCV000562644 RCV000657001 RCV000987172 RCV003997623

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

5 SubmittersRCV000204627 RCV000223493 RCV000781542 RCV001507621 RCV003454544

NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser)

SNV
Germline

Chr7:5977653

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA348346

rs_773393960

10 SubmittersRCV000204089 RCV000662637 RCV000764721 RCV001328413 RCV000568777 RCV001753620 RCV003150094

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
Lynch syndrome 4
Mismatch repair cancer syndrome 1
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

10 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.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

Criteria Provided
Conflicting Classifications

CA043361

rs_766203500

11 SubmittersRCV000205693 RCV000575149 RCV000662464 RCV001193970 RCV003153480 RCV003997581 RCV004820000

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348188

rs_3209663

3 SubmittersRCV001381485 RCV003454541 RCV004782311

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

8 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
Condition: not provided
Lynch syndrome 1
MSH2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA031393

rs_747504492

13 SubmittersRCV000210095 RCV000219087 RCV000530644 RCV000520524 RCV000662912 RCV004541299 RCV003330582

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

6 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.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

9 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
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA10577254

rs_63751077

5 SubmittersRCV000217643 RCV000491993 RCV000692262 RCV003454671 RCV003463614

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
not specified
Breast and/or ovarian cancer
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA073553

rs_779858670

9 SubmittersRCV000220107 RCV000465049 RCV000566281 RCV002229338 RCV001798725 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
MSH6-related disorder
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577265

rs_876661043

10 SubmittersRCV000215890 RCV000225881 RCV000569553 RCV000662360 RCV004541361 RCV004567677 RCV003998620

NM_000179.3(MSH6):c.1729C>G (p.Arg577Gly)

SNV
Germline

Chr2:47799712

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA068077

rs_542838372

10 SubmittersRCV000223441 RCV000766399 RCV000564916 RCV000555846 RCV003998645 RCV004739624 RCV003469114

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

6 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

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

Reviewed By Expert Panel

CA069803

rs_63749919

9 SubmittersRCV000491101 RCV000218181 RCV000623975 RCV000458194 RCV003463615 RCV002467444 RCV003165582

NM_000179.3(MSH6):c.2963G>A (p.Arg988His)

SNV
Germline

Chr2:47800946

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA069876

rs_115386788

7 SubmittersRCV000214813 RCV000566696 RCV000534216 RCV001354499 RCV003998623

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

7 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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577285

rs_780345806

7 SubmittersRCV000222192 RCV000536806 RCV000562792 RCV001174616 RCV003998628

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 nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA072425

rs_756216566

8 SubmittersRCV000216522 RCV000630217 RCV001201279 RCV000567812 RCV003998616 RCV003463610

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

SNV
Germline

Chr3:37007002

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10577305

rs_63749818

5 SubmittersRCV000220277 RCV001380045 RCV001804961 RCV002354620 RCV003454662

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
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA029036

rs_754554026

8 SubmittersRCV000214903 RCV000462302 RCV000774707 RCV001264530 RCV004567675 RCV003998618

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

Criteria Provided
Conflicting Classifications

CA048880

rs_574371474

6 SubmittersRCV000217218 RCV000222472 RCV000530024 RCV000764718 RCV001249991

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 nonpolyposis colon cancer
Lynch syndrome 4
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Carcinoma of colon

Criteria Provided
Multiple Submitters
No Conflicts

CA10577331

rs_876661113

16 SubmittersRCV000219334 RCV000228982 RCV000507182 RCV001193818 RCV002288907 RCV004017528 RCV002494606 RCV000575263 RCV001358436

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

7 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.631C>T (p.Arg211Ter)

SNV
Germline

Chr7:5999182

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA050695

rs_760228510

12 SubmittersRCV000568505 RCV003165579 RCV003315238 RCV000222317 RCV000473579 RCV001174885 RCV003454666

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
Lynch syndrome 4
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA10577352

rs_113517055

7 SubmittersRCV000217968 RCV000476751 RCV000776211 RCV003153516 RCV002265698

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

Criteria Provided
Conflicting Classifications

CA10577358

rs_756420858

5 SubmittersRCV000213219 RCV001019303 RCV001487947 RCV003998635

NM_000535.7(PMS2):c.7C>T (p.Arg3Ter)

SNV
Germline

Chr7:6009013

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10577360

rs_763939668

7 SubmittersRCV001069268 RCV002415912 RCV000222827 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
Malignant tumor of breast
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA042517

rs_745361721

15 SubmittersRCV000214339 RCV000222258 RCV000230374 RCV000657052 RCV001354151 RCV000662535 RCV003997985

NM_000251.2(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

Criteria Provided
Conflicting Classifications

CA10577908

rs_866991159

5 SubmittersRCV000219414 RCV001267894 RCV001549839 RCV003491972

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.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

Criteria Provided
Conflicting Classifications

CA029624

rs_755931648

6 SubmittersRCV000222303 RCV000708826 RCV000813496 RCV003469045

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

Criteria Provided
Conflicting Classifications

CA10577921

rs_749212640

7 SubmittersRCV000220104 RCV000814579 RCV000679293 RCV003997771

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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10577927

rs_587781447

6 SubmittersRCV000216857 RCV000235359 RCV001320134 RCV003997919 RCV002254690

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

Criteria Provided
Conflicting Classifications

CA10577929

rs_876659747

6 SubmittersRCV000215101 RCV000227027 RCV001030705 RCV001532987 RCV003997972

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

4 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

3 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

Criteria Provided
Conflicting Classifications

CA10577948

rs_370906735

6 SubmittersRCV000221892 RCV000538161 RCV001139363 RCV003997867

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

Criteria Provided
Conflicting Classifications

CA040330

rs_761529282

5 SubmittersRCV000222095 RCV000526634 RCV000757937

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

8 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
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577957

rs_759242666

7 SubmittersRCV000213764 RCV000548278 RCV000506029 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

Criteria Provided
Conflicting Classifications

CA041012

rs_201334592

11 SubmittersRCV000220130 RCV000411007 RCV000469366 RCV000589679 RCV003997848

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

Criteria Provided
Conflicting Classifications

CA041188

rs_780656204

5 SubmittersRCV000219588 RCV000461288 RCV003469076 RCV003998553

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

8 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

Criteria Provided
Conflicting Classifications

CA10577966

rs_876659861

4 SubmittersRCV000215205 RCV002057206 RCV003997986

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

7 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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA027012

rs_749660228

9 SubmittersRCV000213803 RCV000483512 RCV001080950 RCV001093680 RCV001175089 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

5 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

9 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
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA028810

rs_55653533

8 SubmittersRCV000219106 RCV000475338 RCV002485427 RCV001589154 RCV003462508 RCV003998020

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

8 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

Criteria Provided
Conflicting Classifications

CA029432

rs_777195739

5 SubmittersRCV000214600 RCV000462815 RCV003477771 RCV003998597

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

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA10577982

rs_267607972

4 SubmittersRCV000216875 RCV001220176 RCV002282051 RCV002509313

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
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA031583

rs_150980616

7 SubmittersRCV000223424 RCV000477055 RCV001550360 RCV000765670 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

8 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
not specified
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10577989

rs_876659816

6 SubmittersRCV000220154 RCV001220357 RCV002247660 RCV004734876 RCV003997980

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
MSH2-related disorder
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA032208

rs_185356145

9 SubmittersRCV000213193 RCV000477485 RCV000791407 RCV000985799 RCV004532791 RCV003469050

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10577995

rs_876660711

6 SubmittersRCV000215510 RCV000462315 RCV000484436 RCV003454658

NM_000251.3(MSH2):c.2032T>C (p.Tyr678His)

SNV
Germline

Chr2:47476393

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA10577996

rs_876659093

3 SubmittersRCV000221435 RCV003462461 RCV002228960

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 nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
MSH2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA034415

rs_747265823

5 SubmittersRCV000524727 RCV004567613 RCV000214268 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
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Lynch syndrome 1
Condition: not provided
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA035112

rs_757268664

9 SubmittersRCV000221755 RCV000464199 RCV000780438 RCV002485413 RCV001843496 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

Criteria Provided
Conflicting Classifications

CA10578009

rs_876659466

4 SubmittersRCV000218052 RCV000629882 RCV001175264 RCV003997937

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
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA036718

rs_752428475

10 SubmittersRCV000217383 RCV000229354 RCV001142095 RCV001722191 RCV003330590 RCV003997953 RCV004532792

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
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA10578017

rs_876659835

4 SubmittersRCV000216683 RCV003997983 RCV002229281

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

4 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

4 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

Criteria Provided
Conflicting Classifications

CA10578023

rs_876659020

6 SubmittersRCV000220037 RCV000464611 RCV003477728 RCV003997888

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

Criteria Provided
Conflicting Classifications

CA10578027

rs_876659508

6 SubmittersRCV000219210 RCV000697068 RCV001705217 RCV003997941

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

Criteria Provided
Conflicting Classifications

CA073070

rs_763841886

7 SubmittersRCV000215845 RCV000534390 RCV001762481 RCV003997884 RCV004698831

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
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10578041

rs_876659071

9 SubmittersRCV000215713 RCV000555550 RCV000663154 RCV002280111 RCV003462459 RCV003997891 RCV004526646

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
Malignant tumor of breast
not specified
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA073334

rs_374041375

7 SubmittersRCV000223134 RCV000228836 RCV001355754 RCV001201254 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

9 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

Criteria Provided
Conflicting Classifications

CA073603

rs_150440246

11 SubmittersRCV000219163 RCV000475100 RCV000478810 RCV000659889 RCV000761132 RCV002265689 RCV004739607

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
not specified
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA10578055

rs_876658610

12 SubmittersRCV000216324 RCV000229706 RCV000483787 RCV001328357 RCV000663012 RCV003997842 RCV003462441

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

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

Criteria Provided
Conflicting Classifications

CA10578069

rs_41295268

7 SubmittersRCV000486815 RCV000223504 RCV000456959 RCV003998047 RCV003469073

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

Criteria Provided
Conflicting Classifications

CA067771

rs_779411998

8 SubmittersRCV000223633 RCV000467079 RCV001093674 RCV001354875 RCV004532793 RCV004567593

NM_000179.3(MSH6):c.1525G>C (p.Val509Leu)

SNV
Germline

Chr2:47799508

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10578073

rs_876660317

6 SubmittersRCV000466630 RCV000218406 RCV000481397 RCV003469072 RCV003998046

NM_000179.3(MSH6):c.1537A>G (p.Ile513Val)

SNV
Germline

Chr2:47799520

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067819

rs_746897461

5 SubmittersRCV000550953 RCV000221108 RCV003469083 RCV003998570

NM_000179.3(MSH6):c.1656T>A (p.His552Gln)

SNV
Germline

Chr2:47799639

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA067967

rs_745937181

6 SubmittersRCV000215555 RCV001753682 RCV000463760 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
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10578081

rs_868760377

10 SubmittersRCV000219912 RCV000233003 RCV000484834 RCV000662524 RCV000657004 RCV003469017 RCV003997865

NM_000179.3(MSH6):c.1871G>T (p.Gly624Val)

SNV
Germline

Chr2:47799854

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA068227

rs_763606858

7 SubmittersRCV000217487 RCV000480702 RCV000464191 RCV001293521 RCV003998588 RCV004739620

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

Criteria Provided
Conflicting Classifications

CA10578088

rs_768095444

5 SubmittersRCV000222892 RCV000478131 RCV000629954 RCV003998550

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
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068389

rs_751778243

7 SubmittersRCV000213514 RCV000529803 RCV000985829 RCV003468992 RCV003997791

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.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
Lynch syndrome 5
Endometrial carcinoma
Condition: not provided
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA068851

rs_373721483

11 SubmittersRCV000222377 RCV000465704 RCV000708874 RCV001789766 RCV003462514 RCV001800572 RCV004541356

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
Lynch syndrome
not specified
Endometrial carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA069123

rs_752544046

7 SubmittersRCV000217167 RCV000461932 RCV003997908 RCV002247652 RCV003462469 RCV000985833

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
Lynch syndrome 5
Endometrial carcinoma
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.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
Malignant tumor of breast
not specified
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069715

rs_753034685

10 SubmittersRCV000213285 RCV000485366 RCV000555735 RCV001355880 RCV000781579 RCV003462414 RCV003335237 RCV003997779

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

Criteria Provided
Conflicting Classifications

CA069886

rs_115386788

9 SubmittersRCV000223636 RCV000465720 RCV000589846 RCV000708883 RCV003462404

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.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
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10578129

rs_876658397

8 SubmittersRCV000216842 RCV000227272 RCV000503628 RCV001080207 RCV003997803 RCV003330587

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

Criteria Provided
Conflicting Classifications

CA070646

rs_755716475

7 SubmittersRCV000220326 RCV000461508 RCV003422122 RCV004806219

NM_000179.3(MSH6):c.3417C>T (p.Gly1139=)

SNV
Germline

Chr2:47803664

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10578141

rs_876660283

3 SubmittersRCV000221461 RCV001363003 RCV003454648

NM_000179.3(MSH6):c.3467T>C (p.Met1156Thr)

SNV
Germline

Chr2:47804938

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10578145

rs_876659549

7 SubmittersRCV000217088 RCV000475398 RCV000482975 RCV000662884 RCV003997945

NM_000179.3(MSH6):c.3801+1G>T

SNV
Germline

Chr2:47806359

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10578160

rs_876660943

5 SubmittersRCV000763498 RCV000217114 RCV000226322 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

8 SubmittersRCV000216678 RCV000708893 RCV000704640 RCV001358640 RCV003469028

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
Endometrial carcinoma
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10578165

rs_876660361

8 SubmittersRCV000218648 RCV000462482 RCV000487307 RCV003462524 RCV004804924 RCV000589207

NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro)

SNV
Germline

Chr2:47806651

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10578173

rs_267608122

6 SubmittersRCV000219938 RCV001810439 RCV000459481 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
Hereditary nonpolyposis colorectal neoplasms
not specified
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Lynch syndrome
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA038470

rs_371302926

12 SubmittersRCV000215834 RCV000412189 RCV000475873 RCV000505929 RCV001535606 RCV000985258 RCV003997811 RCV004748664

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
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA038943

rs_63750547

9 SubmittersRCV000222772 RCV000527338 RCV000663054 RCV000588023 RCV001824695 RCV003997993

NM_000249.4(MLH1):c.931A>G (p.Lys311Glu)

SNV
Germline

Chr3:37020356

Likely pathogenic

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

Reviewed By Expert Panel

CA10578235

rs_876658657

7 SubmittersRCV000216819 RCV000624023 RCV000473970 RCV000586755 RCV000790628 RCV003469008

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

Criteria Provided
Conflicting Classifications

CA10578260

rs_876658915

7 SubmittersRCV000220192 RCV000287269 RCV000925925 RCV001668387 RCV004806222

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

6 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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10578654

rs_876659900

5 SubmittersRCV000216032 RCV000760558 RCV001056896 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.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.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

Criteria Provided
Conflicting Classifications

CA043129

rs_569947936

5 SubmittersRCV000214914 RCV000460028 RCV000481558 RCV000987831

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

Criteria Provided
Conflicting Classifications

CA043115

rs_569947936

7 SubmittersRCV000221391 RCV000521141 RCV000629994 RCV001731444 RCV003997861

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.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
PMS2-related disorder
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA052862

rs_186577215

11 SubmittersRCV000223117 RCV000229543 RCV000613399 RCV000758631 RCV001722189 RCV003897493 RCV003491979

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
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Gastric cancer
Hereditary nonpolyposis colon cancer
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10578696

rs_876659736

12 SubmittersRCV000219153 RCV000479060 RCV000763588 RCV003165571 RCV004525906 RCV001267893 RCV000541550 RCV003997969

NM_000535.7(PMS2):c.555C>T (p.Val185=)

SNV
Germline

Chr7:5999258

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA050341

rs_759078497

5 SubmittersRCV000223202 RCV003316196 RCV000231061 RCV001722173

NM_000535.7(PMS2):c.251-2A>C

SNV
Germline

Chr7:6003794

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10578724

rs_587779340

11 SubmittersRCV000219075 RCV000735964 RCV001249235 RCV001530037 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

Criteria Provided
Conflicting Classifications

CA10578727

rs_876658444

4 SubmittersRCV000220376 RCV000630356 RCV001358033 RCV003997813

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

Criteria Provided
Conflicting Classifications

CA10578733

rs_876660608

3 SubmittersRCV000215922 RCV000758633 RCV001483904

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

5 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
Lynch syndrome
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10581987

rs_878853797

9 SubmittersRCV000227770 RCV000480195 RCV000563870 RCV003998750 RCV002465579 RCV003469135

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
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10581989

rs_878853826

7 SubmittersRCV000226454 RCV000664273 RCV001658053 RCV003998766 RCV002282071

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 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10581991

rs_878853799

5 SubmittersRCV000230826 RCV000575441 RCV004567715 RCV003998753

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

Criteria Provided
Conflicting Classifications

CA035416

rs_772779997

6 SubmittersRCV000229561 RCV000235910 RCV000491448 RCV003150133 RCV003998761

NM_000251.3(MSH2):c.340G>T (p.Glu114Ter)

SNV
Germline

Chr2:47408529

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10581993

rs_878853815

5 SubmittersRCV000228392 RCV000985808 RCV001020232 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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA040278

rs_370906735

8 SubmittersRCV000230625 RCV000564902 RCV001557291 RCV003998764 RCV003463649

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

5 SubmittersRCV000231079 RCV001026925 RCV001193895 RCV003128606 RCV004806259

NM_000251.3(MSH2):c.790C>T (p.Gln264Ter)

SNV
Germline

Chr2:47412558

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10582002

rs_878853824

4 SubmittersRCV000233889 RCV000235710 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
Lynch syndrome
Condition: not provided
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA040882

rs_150197753

12 SubmittersRCV000232025 RCV000422592 RCV000573521 RCV000986654 RCV003998767 RCV001705241 RCV004541371

NM_000251.3(MSH2):c.1077-7A>G

SNV
Germline

Chr2:47429735

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA026935

rs_370807334

8 SubmittersRCV000232807 RCV000417988 RCV003998749 RCV002258835 RCV001705240 RCV004541370

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
Hereditary cancer
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA027052

rs_776174711

11 SubmittersRCV000229489 RCV000479748 RCV000662583 RCV001017396 RCV003491996 RCV003998751 RCV001193852

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

Criteria Provided
Conflicting Classifications

CA10582010

rs_151244108

5 SubmittersRCV001185296 RCV001319460 RCV003469136 RCV004998509

NM_000251.3(MSH2):c.1301C>T (p.Ala434Val)

SNV
Germline

Chr2:47445572

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA027829

rs_768070717

7 SubmittersRCV000232170 RCV000573477 RCV000589179 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
Breast and/or ovarian cancer
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA028135

rs_575905950

8 SubmittersRCV000225970 RCV000573569 RCV000985795 RCV003150132 RCV003338475 RCV003998755

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

3 SubmittersRCV001366376 RCV002417987 RCV003454700

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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10582028

rs_878853813

5 SubmittersRCV000233718 RCV001016339 RCV001262889 RCV003998762 RCV003469138

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

10 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
Lynch syndrome 1
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA037620

rs_587779969

10 SubmittersRCV000234169 RCV000235791 RCV000564878 RCV000662845 RCV000767184 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

Criteria Provided
Conflicting Classifications

CA067275

rs_756673077

8 SubmittersRCV000232522 RCV000491059 RCV000611965 RCV003998707 RCV005001023

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

Criteria Provided
Conflicting Classifications

CA067716

rs_775498550

6 SubmittersRCV000233115 RCV000773125 RCV003320618 RCV003998708 RCV004696887

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

Criteria Provided
Conflicting Classifications

CA10582035

rs_878853717

7 SubmittersRCV000229669 RCV000491394 RCV001354734 RCV001572461 RCV003998719

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
Lynch syndrome
Endometrial carcinoma
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA073459

rs_769610487

10 SubmittersRCV000232347 RCV000561246 RCV000582421 RCV003233509 RCV003998733 RCV003463644 RCV003491994

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

Criteria Provided
Conflicting Classifications

CA1649445

rs_1042819

10 SubmittersRCV000234680 RCV000445727 RCV000759841 RCV001082552 RCV001290648 RCV003998706 RCV004532832

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

Criteria Provided
Conflicting Classifications

CA10582051

rs_878853705

7 SubmittersRCV000227913 RCV000569066 RCV000600512 RCV003998709 RCV005001024

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
Breast and/or ovarian cancer
Endometrial carcinoma
Malignant tumor of breast
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068286

rs_201096652

12 SubmittersRCV000229693 RCV000482874 RCV000491214 RCV001798729 RCV003469131 RCV001356893 RCV001192456 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
Lynch syndrome
Endometrial carcinoma
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA068470

rs_751867550

11 SubmittersRCV000227011 RCV000483631 RCV000580465 RCV000662419 RCV003998715 RCV003469132 RCV004701307

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

7 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.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

Criteria Provided
Conflicting Classifications

CA10582071

rs_878853723

8 SubmittersRCV000231932 RCV000571874 RCV000581651 RCV001589169 RCV003463639 RCV004529388 RCV003998722

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
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA10582076

rs_370505117

10 SubmittersRCV000227649 RCV000491202 RCV000985838 RCV002494619 RCV003998725 RCV004567712

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.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

Criteria Provided
Conflicting Classifications

CA070699

rs_773245315

6 SubmittersRCV000230242 RCV000487138 RCV000570386 RCV003998729

NM_000179.3(MSH6):c.3438+17G>C

SNV
Germline

Chr2:47803702

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA070832

rs_759737239

4 SubmittersRCV000426415 RCV000412183 RCV000583188 RCV002057234

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
Lynch syndrome 1
Papillary carcinoma of the corpus uteri
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10582086

rs_398123231

9 SubmittersRCV000228304 RCV000580568 RCV000657748 RCV000781603 RCV004668863 RCV003137833 RCV003454692

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
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA071996

rs_63750554

9 SubmittersRCV000227470 RCV000479785 RCV000491197 RCV000766490 RCV003998730 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

Criteria Provided
Conflicting Classifications

CA072445

rs_768944975

5 SubmittersRCV000229058 RCV000478567 RCV000574677 RCV004804946

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10582095

rs_878853745

3 SubmittersRCV000231436 RCV000772337 RCV003454695

NM_000249.4(MLH1):c.117-10G>A

SNV
Germline

Chr3:36996609

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA027522

rs_576724240

6 SubmittersRCV000227602 RCV000601988 RCV000583139 RCV001722211 RCV003998737

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
not specified
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039074

rs_779581111

10 SubmittersRCV000234748 RCV000581030 RCV000780417 RCV000759816 RCV001147025 RCV003998746

NM_000249.4(MLH1):c.1990-6G>A

SNV
Germline

Chr3:37048898

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA032135

rs_117221851

13 SubmittersRCV000226567 RCV000430988 RCV000580651 RCV000663093 RCV001533528 RCV003929936 RCV003998741

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.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

Criteria Provided
Conflicting Classifications

CA043685

rs_1805323

8 SubmittersRCV000227437 RCV000479471 RCV000570329 RCV002288911 RCV003998786

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
Lynch syndrome 4
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA10582513

rs_587780040

6 SubmittersRCV000227364 RCV000567547 RCV003463655 RCV000759913 RCV004806260

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
not specified
Condition: not provided
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA10582517

rs_786201878

6 SubmittersRCV000232471 RCV000565783 RCV001174830 RCV001284035 RCV000853300

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10582518

rs_878854059

3 SubmittersRCV000230352 RCV002372260 RCV003454707

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

Criteria Provided
Multiple Submitters
No Conflicts

CA052331

rs_267608153

5 SubmittersRCV000228489 RCV000573516 RCV000614513 RCV001762520 RCV003454708

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
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA049693

rs_752284380

8 SubmittersRCV000233053 RCV000566584 RCV000662749 RCV002503891 RCV003998793

NM_000535.7(PMS2):c.353+6A>G

SNV
Germline

Chr7:6003684

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA049404

rs_376449640

14 SubmittersRCV000226224 RCV000507750 RCV000581327 RCV000586664 RCV000663107 RCV001535734 RCV001798733 RCV003998791

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

5 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

Criteria Provided
Multiple Submitters
No Conflicts

CA10584204

rs_763872353

4 SubmittersRCV000235827 RCV001854868 RCV003454719

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.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

Criteria Provided
Conflicting Classifications

CA040269

rs_147389443

5 SubmittersRCV000236679 RCV000562875 RCV001040201 RCV003463701

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.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
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA028758

rs_774419666

4 SubmittersRCV000236460 RCV001047851 RCV003998929 RCV003165662

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

4 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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10584222

rs_879254183

6 SubmittersRCV000236064 RCV000556812 RCV000564620 RCV003998917 RCV003469187

NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro)

SNV
Germline

Chr2:47478423

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA035470

rs_774440277

11 SubmittersRCV000569234 RCV000456146 RCV000585967 RCV001526856 RCV003469179

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

7 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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10588344

rs_28929483

5 SubmittersRCV000256112 RCV000491622 RCV000629692 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

4 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
Malignant tumor of breast
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA10613588

rs_886056141

8 SubmittersRCV000381615 RCV000573597 RCV000588746 RCV000855622 RCV001357083 RCV001085785 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

7 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_000251.3(MSH2):c.335C>G (p.Ser112Cys)

SNV
Germline

Chr2:47408524

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA037917

rs_769215192

3 SubmittersRCV000389495 RCV003758755 RCV002323544

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
Hereditary cancer
MLH3-related disorder

Criteria Provided
Conflicting Classifications

CA7275497

rs_142124529

8 SubmittersRCV000269033 RCV001094469 RCV002261047 RCV003321583 RCV004701405 RCV004751455

NM_000251.3(MSH2):c.806C>A (p.Ser269Ter)

SNV
Germline

Chr2:47414282

Pathogenic/Likely 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.1276+16G>A

SNV
Germline

Chr2:47429957

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA027438

rs_368120695

5 SubmittersRCV000411558 RCV000421899 RCV000587782 RCV000579646 RCV002058853

NM_000251.3(MSH2):c.1510+11G>C

SNV
Germline

Chr2:47463165

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA029000

rs_370675562

6 SubmittersRCV000410661 RCV000579684 RCV000442358 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
not specified
MSH6-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA073358

rs_730881822

7 SubmittersRCV000409841 RCV000583102 RCV001355925 RCV002509378 RCV004739712 RCV001584107

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
Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA16042060

rs_1057517629

6 SubmittersRCV000409332 RCV000583965 RCV000616287 RCV002058852

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

SNV
Germline

Chr3:37008813

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16042068

rs_193922370

4 SubmittersRCV000410339 RCV000472090 RCV000568411 RCV000684811

NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)

SNV
Germline

Chr3:37025817

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16042072

rs_1057517541

12 SubmittersRCV000411311 RCV000486818 RCV000684819 RCV001731666 RCV001183269 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
Malignant tumor of esophagus
Loeys-Dietz syndrome 2
Colorectal cancer, hereditary nonpolyposis, type 6
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
TGFBR2-related disorder

Criteria Provided
Conflicting Classifications

CA045395

rs_761991787

10 SubmittersRCV000415648 RCV000415679 RCV000781901 RCV000765723 RCV000809777 RCV001310482 RCV003902462

NM_000251.3(MSH2):c.2277A>G (p.Gly759=)

SNV
Germline

Chr2:47478338

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16604163

rs_1057520316

5 SubmittersRCV000427595 RCV000570352 RCV000467973 RCV003995967

NM_000179.3(MSH6):c.-12C>G

SNV
Germline

Chr2:47783222

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067463

rs_766407370

5 SubmittersRCV000443454 RCV000580863 RCV003996067

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

Criteria Provided
Conflicting Classifications

CA040101

rs_368270856

10 SubmittersRCV000435277 RCV000474559 RCV000566649 RCV001171948 RCV003996035 RCV004530564

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

5 SubmittersRCV000553928 RCV000564734 RCV001139362 RCV001712362

NM_000179.3(MSH6):c.628-7C>T

SNV
Germline

Chr2:47798604

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA073257

rs_373129248

6 SubmittersRCV000444664 RCV000589714 RCV001082338 RCV001525063 RCV004533051 RCV004000439

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16604278

rs_1057520605

5 SubmittersRCV000441289 RCV002521554 RCV003463828 RCV003449054 RCV002411309

NM_000251.3(MSH2):c.211+8C>T

SNV
Germline

Chr2:47403410

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA034009

rs_267607916

10 SubmittersRCV000427874 RCV000759110 RCV000579968 RCV000663062 RCV001085835 RCV004539773

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

Criteria Provided
Conflicting Classifications

CA16604543

rs_920449426

5 SubmittersRCV000424515 RCV000557995 RCV001013070 RCV003996064

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

Criteria Provided
Conflicting Classifications

CA031127

rs_145535636

8 SubmittersRCV000430377 RCV000476999 RCV000572236 RCV001498345 RCV004000532

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

SNV
Germline

Chr2:47783233

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16604564

rs_1057522403

4 SubmittersRCV000431505 RCV001013988 RCV004000443

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

Criteria Provided
Conflicting Classifications

CA049358

rs_766373982

7 SubmittersRCV000425644 RCV001211500 RCV002258890 RCV004000433 RCV004999400

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_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

9 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

Criteria Provided
Conflicting Classifications

CA038704

rs_774132884

6 SubmittersRCV000472699 RCV000572837 RCV001764409 RCV003226296 RCV004000783

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.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

9 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

Criteria Provided
Multiple Submitters
No Conflicts

CA16610782

rs_786202083

4 SubmittersRCV000473438 RCV000494274 RCV003449132

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

5 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

Criteria Provided
Conflicting Classifications

CA16610792

rs_1060501992

4 SubmittersRCV000473169 RCV000571885 RCV001526843 RCV004000772

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.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
not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610806

rs_35717997

5 SubmittersRCV000473948 RCV000780437 RCV000774562 RCV004000786

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
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA031770

rs_63750508

5 SubmittersRCV000465743 RCV000483159 RCV000561447 RCV001192651 RCV003449133

NM_000251.3(MSH2):c.2281G>A (p.Gly761Arg)

SNV
Germline

Chr2:47478342

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16610823

rs_1060502038

3 SubmittersRCV000456782 RCV003449137 RCV002446814

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_000179.3(MSH6):c.104C>T (p.Ala35Val)

SNV
Germline

Chr2:47783337

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA067076

rs_776547943

7 SubmittersRCV000461408 RCV000480657 RCV000765675 RCV000573037 RCV001192488 RCV003463931

NM_000179.3(MSH6):c.115G>C (p.Gly39Arg)

SNV
Germline

Chr2:47783348

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA067226

rs_751838296

7 SubmittersRCV000459919 RCV000567789 RCV001721501 RCV000663030 RCV000481267

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
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA16610836

rs_587779920

7 SubmittersRCV000459237 RCV000572922 RCV000761153 RCV003335336 RCV003463930

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16610843

rs_1060502001

3 SubmittersRCV000467909 RCV004017628 RCV004022693

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

Criteria Provided
Conflicting Classifications

CA036678

rs_754533481

6 SubmittersRCV000462770 RCV000491706 RCV001356868 RCV004806314

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.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
Hereditary cancer
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16610848

rs_1060502016

4 SubmittersRCV000464809 RCV001525043 RCV003492058 RCV003225726

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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA16610851

rs_1060502037

8 SubmittersRCV000470535 RCV000569475 RCV001560001 RCV001844163 RCV004000795 RCV003470452

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

Criteria Provided
Conflicting Classifications

CA16610852

rs_1046304919

7 SubmittersRCV000491454 RCV000521132 RCV001082030 RCV001355486 RCV004002173

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16610853

rs_12476364

8 SubmittersRCV000468897 RCV000491423 RCV000985819 RCV001194032 RCV003449129 RCV004000776

NM_000179.3(MSH6):c.457G>A (p.Gly153Ser)

SNV
Germline

Chr2:47791123

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16610857

rs_1060502885

4 SubmittersRCV004787735 RCV001355892 RCV002339174 RCV002230105

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

Criteria Provided
Conflicting Classifications

CA027158

rs_61756465

4 SubmittersRCV000473029 RCV001535616 RCV002329043 RCV003463908

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

8 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

6 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

Criteria Provided
Conflicting Classifications

CA073528

rs_751309721

7 SubmittersRCV000473462 RCV000568053 RCV000985853 RCV001821283 RCV004001830

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

Criteria Provided
Conflicting Classifications

CA067350

rs_768740986

6 SubmittersRCV000460255 RCV000520334 RCV000567415 RCV004000828 RCV004740239

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_000251.3(MSH2):c.2320A>G (p.Ile774Val)

SNV
Germline

Chr2:47478381

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16610892

rs_775464903

7 SubmittersRCV000468999 RCV000492021 RCV001270006 RCV003168800 RCV004000779 RCV003463906

NM_000179.3(MSH6):c.1805C>A (p.Ser602Ter)

SNV
Germline

Chr2:47799788

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16610899

rs_730881816

4 SubmittersRCV001192458 RCV002230410 RCV003139659 RCV003449147

NM_000179.3(MSH6):c.2056G>T (p.Gly686Cys)

SNV
Germline

Chr2:47800039

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16610900

rs_1060502934

6 SubmittersRCV000460149 RCV000775722 RCV001797726 RCV001576673 RCV004001851

NM_000179.3(MSH6):c.968C>T (p.Thr323Ile)

SNV
Germline

Chr2:47798951

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA073667

rs_777890307

4 SubmittersRCV000466844 RCV000579969 RCV004022782

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

Criteria Provided
Conflicting Classifications

CA067740

rs_758699749

5 SubmittersRCV000776440 RCV002230121 RCV002508935 RCV003446065

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
Condition: not provided
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA069266

rs_780280765

6 SubmittersRCV000464988 RCV000771517 RCV002289613 RCV001798840 RCV004000830

NM_000179.3(MSH6):c.2735G>A (p.Trp912Ter)

SNV
Germline

Chr2:47800718

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16610918

rs_1060502876

5 SubmittersRCV000985836 RCV000470184 RCV003449140 RCV000771632

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

Criteria Provided
Conflicting Classifications

CA069657

rs_772978164

6 SubmittersRCV000460082 RCV000580547 RCV003463940 RCV004001849 RCV004525934

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

Criteria Provided
Conflicting Classifications

CA067192

rs_781572949

8 SubmittersRCV000485270 RCV000568836 RCV001087055 RCV001290548 RCV004002159

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

Criteria Provided
Conflicting Classifications

CA072089

rs_749922503

5 SubmittersRCV000467499 RCV000774613 RCV001712419 RCV002268086 RCV004001840

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
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610952

rs_1060504739

4 SubmittersRCV000565757 RCV001493899 RCV004999508 RCV004002157

NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)

SNV
Germline

Chr2:47803435

Pathogenic

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

Reviewed By Expert Panel

CA16610953

rs_1060502901

9 SubmittersRCV000623149 RCV000491375 RCV002051855 RCV002230108 RCV002272245 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
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070372

rs_764113705

10 SubmittersRCV000464681 RCV000483362 RCV000491614 RCV000662364 RCV001354888 RCV004568054 RCV004001848

NM_000179.3(MSH6):c.3886A>G (p.Lys1296Glu)

SNV
Germline

Chr2:47806536

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16610959

rs_575714670

7 SubmittersRCV000561056 RCV000477645 RCV001290552 RCV004000829 RCV003477984

NM_000179.3(MSH6):c.3949C>G (p.His1317Asp)

SNV
Germline

Chr2:47806599

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA072360

rs_759092293

7 SubmittersRCV000463911 RCV000566983 RCV003463934 RCV000485411 RCV000662834

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

SNV
Germline

Chr2:47799555

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16610964

rs_587779215

6 SubmittersRCV000457937 RCV000523866 RCV000791425 RCV003463929 RCV003449146 RCV000491224

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 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610971

rs_17217716

6 SubmittersRCV000460417 RCV000564460 RCV001798836 RCV004568016 RCV004806310

NM_000179.3(MSH6):c.1660C>T (p.Arg554Cys)

SNV
Germline

Chr2:47799643

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA067976

rs_775716798

7 SubmittersRCV001566013 RCV000473757 RCV000580839 RCV001030493 RCV004806326 RCV004568055

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

4 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
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16610976

rs_876660882

9 SubmittersRCV000457877 RCV000490961 RCV002496783 RCV003148746 RCV003463944 RCV004001861

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

Criteria Provided
Conflicting Classifications

CA16610987

rs_768944975

6 SubmittersRCV000466998 RCV000775745 RCV001555679 RCV003470467 RCV004001844

NM_000179.3(MSH6):c.1984A>G (p.Met662Val)

SNV
Germline

Chr2:47799967

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16610994

rs_1060502935

4 SubmittersRCV001013909 RCV000461074 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

Criteria Provided
Conflicting Classifications

CA068368

rs_377356882

7 SubmittersRCV000470045 RCV000491796 RCV001565312 RCV004001833 RCV003463933

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

Criteria Provided
Conflicting Classifications

CA038750

rs_773125415

7 SubmittersRCV000458857 RCV000568213 RCV000759835 RCV003449128 RCV004000775

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

Criteria Provided
Conflicting Classifications

CA16611002

rs_1060501987

4 SubmittersRCV001026074 RCV002230355 RCV004000771

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

Criteria Provided
Conflicting Classifications

CA16611006

rs_748427458

7 SubmittersRCV000457050 RCV000519119 RCV000775712 RCV004568017 RCV004806311

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
Mismatch repair cancer syndrome 3
Lynch syndrome
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16611011

rs_374230313

7 SubmittersRCV000469257 RCV000566681 RCV003168831 RCV003449149 RCV003483627 RCV004001837

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.1777C>G (p.Gln593Glu)

SNV
Germline

Chr2:47475042

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16611035

rs_63750200

3 SubmittersRCV000467112 RCV001013110 RCV004000784

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_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

7 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

3 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

Criteria Provided
Conflicting Classifications

CA16611051

rs_878853811

10 SubmittersRCV000473566 RCV000761089 RCV001015184 RCV001284505 RCV003315429

NM_000251.3(MSH2):c.2459-1G>A

SNV
Germline/somatic

Chr2:47480695

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16611057

rs_1060501991

4 SubmittersRCV000465186 RCV001201394 RCV003449127 RCV002446811

NM_000179.3(MSH6):c.3529C>G (p.Leu1177Val)

SNV
Germline

Chr2:47805000

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA071122

rs_748398941

8 SubmittersRCV000469909 RCV000521217 RCV004001826 RCV003463928 RCV000568727 RCV000663017

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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA16611071

rs_757622849

4 SubmittersRCV000468207 RCV000564743 RCV004806329 RCV004568058

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

Criteria Provided
Conflicting Classifications

CA16611088

rs_756216566

6 SubmittersRCV000473620 RCV000571258 RCV002307506 RCV004568053 RCV004001847

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

6 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.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

5 SubmittersRCV000470821 RCV000491946 RCV000759137 RCV004001855

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
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA071434

rs_75095286

10 SubmittersRCV000467878 RCV000574327 RCV000587963 RCV002496782 RCV003470469 RCV004001852

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

Criteria Provided
Conflicting Classifications

CA028235

rs_763189331

6 SubmittersRCV000587089 RCV001088444 RCV001190846 RCV004002034

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

Criteria Provided
Conflicting Classifications

CA16611233

rs_983986337

8 SubmittersRCV000464057 RCV000777682 RCV001354080 RCV002254696 RCV004000655

NM_000249.4(MLH1):c.1897-7C>T

SNV
Germline/somatic

Chr3:37048510

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA031471

rs_373078652

8 SubmittersRCV000461885 RCV000758581 RCV000759811 RCV001189941 RCV001535615 RCV004689743

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

6 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

Criteria Provided
Conflicting Classifications

CA032265

rs_755577490

7 SubmittersRCV000456564 RCV001189202 RCV001354280 RCV003409613 RCV004000665 RCV004022567

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

Criteria Provided
Conflicting Classifications

CA028856

rs_532873141

7 SubmittersRCV000460169 RCV000481335 RCV000574118 RCV003153588 RCV004000656

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

Criteria Provided
Conflicting Classifications

CA037512

rs_750650349

7 SubmittersRCV000475778 RCV000564654 RCV000987155 RCV001280631 RCV004000657

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.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

Criteria Provided
Multiple Submitters
No Conflicts

CA049344

rs_111466480

8 SubmittersRCV000468932 RCV001020538 RCV001782956 RCV003449154 RCV004001879

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
Mismatch repair cancer syndrome 1
Lynch syndrome 4
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA045882

rs_760629688

6 SubmittersRCV000463007 RCV000573574 RCV000765955 RCV001821289 RCV004001875

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.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

Criteria Provided
Conflicting Classifications

CA050497

rs_748518694

6 SubmittersRCV000471455 RCV000571978 RCV003151778 RCV004001877

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

Criteria Provided
Multiple Submitters
No Conflicts

CA050225

rs_758304323

12 SubmittersRCV000469599 RCV000663281 RCV000775368 RCV000825602 RCV001576762 RCV003168841

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
not specified

Criteria Provided
Conflicting Classifications

CA043920

rs_749826312

6 SubmittersRCV000464024 RCV000573656 RCV001597142 RCV004001872 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
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16612262

rs_1060503135

4 SubmittersRCV002230436 RCV003449155 RCV004806331 RCV004022861

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

Criteria Provided
Conflicting Classifications

CA16612276

rs_1060503111

6 SubmittersRCV000470673 RCV000569996 RCV000987844 RCV004001873

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

Criteria Provided
Conflicting Classifications

CA16612281

rs_368608818

8 SubmittersRCV000462666 RCV000575513 RCV001672776 RCV001821290 RCV004001881

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
PMS2-related disorder
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16612292

rs_977251189

7 SubmittersRCV000473006 RCV000562693 RCV000485503 RCV001356469 RCV004742426 RCV004568064

NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter)

SNV
Germline

Chr7:5978679

Pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16612382

rs_1060503110

3 SubmittersRCV000521108 RCV000477621 RCV003449153

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

4 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

Criteria Provided
Conflicting Classifications

CA045058

rs_751153838

6 SubmittersRCV000471818 RCV001012607 RCV003227761 RCV004001876

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

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

Criteria Provided
Conflicting Classifications

CA047490

rs_777095030

9 SubmittersRCV000477451 RCV000481770 RCV000776176 RCV002268089 RCV004001885

NM_001040108.2(MLH3):c.2425A>G (p.Met809Val)

SNV
Germline

Chr14:75047231

Conflicting classifications of pathogenicity

Colorectal cancer, hereditary nonpolyposis, type 7
Malignant tumor of breast
Condition: not provided
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA7275709

rs_61752722

9 SubmittersRCV001119882 RCV001270153 RCV001354157 RCV002268106 RCV002463679

NM_000251.3(MSH2):c.47A>C (p.Glu16Ala)

SNV
Germline

Chr2:47403238

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA038939

rs_745771647

6 SubmittersRCV000540608 RCV000484013 RCV003464016 RCV002329151 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

6 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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617548

rs_1064793541

6 SubmittersRCV000484906 RCV001037181 RCV001016981 RCV004002277

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

Criteria Provided
Conflicting Classifications

CA16617549

rs_1060502034

5 SubmittersRCV000483915 RCV000579393 RCV000629871 RCV004806367

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

Criteria Provided
Conflicting Classifications

CA16617550

rs_17217723

8 SubmittersRCV000484092 RCV000564344 RCV000811394 RCV001358224 RCV004806362

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
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA038774

rs_760851623

8 SubmittersRCV000588981 RCV000771216 RCV001051880 RCV004003339 RCV004535515

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

7 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

Criteria Provided
Conflicting Classifications

CA16617570

rs_193922376

7 SubmittersRCV000479341 RCV000530947 RCV001019334 RCV003463979 RCV003387853

NM_000251.3(MSH2):c.1045C>A (p.Pro349Thr)

SNV
Germline

Chr2:47416398

Likely pathogenic

Condition: not provided
Lynch syndrome 1
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA16617573

rs_267607939

4 SubmittersRCV000480250 RCV003485590 RCV001355929 RCV003766712

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

8 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

6 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

Criteria Provided
Conflicting Classifications

CA16617576

rs_786203116

6 SubmittersRCV000487340 RCV001010926 RCV001030709 RCV001851231 RCV004003373

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
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA16617580

rs_876658187

4 SubmittersRCV000487159 RCV002395148 RCV003449190 RCV002525793

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.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
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA16617590

rs_63750657

6 SubmittersRCV000485623 RCV001187838 RCV002280119 RCV003758780

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

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

Criteria Provided
Conflicting Classifications

CA16617601

rs_1064795116

6 SubmittersRCV000484269 RCV000527665 RCV000563540 RCV004003352 RCV003464020

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.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

4 SubmittersRCV000485019 RCV000549838 RCV001016216 RCV004568150

NM_000179.3(MSH6):c.67G>C (p.Ala23Pro)

SNV
Germline

Chr2:47783300

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16617616

rs_730881810

7 SubmittersRCV000537973 RCV000482378 RCV000565704 RCV003387854 RCV004002285

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

Criteria Provided
Conflicting Classifications

CA067248

rs_1042821

4 SubmittersRCV000480607 RCV000823347 RCV002329143 RCV004002284

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

Criteria Provided
Conflicting Classifications

CA068115

rs_761033647

6 SubmittersRCV000482176 RCV000557696 RCV000560960 RCV004003399 RCV004568208

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

Criteria Provided
Conflicting Classifications

CA16617626

rs_1064793184

5 SubmittersRCV000482046 RCV000553070 RCV001183214 RCV004002246

NM_000179.3(MSH6):c.690A>G (p.Glu230=)

SNV
Germline

Chr2:47798673

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16617634

rs_1064795970

5 SubmittersRCV000481633 RCV001183212 RCV004003386 RCV003758791

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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067043

rs_753617680

5 SubmittersRCV000481708 RCV000697119 RCV000564150 RCV004806351

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

Criteria Provided
Conflicting Classifications

CA067106

rs_771529531

7 SubmittersRCV000485837 RCV000582356 RCV000629703 RCV003464014 RCV004003341

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

Criteria Provided
Conflicting Classifications

CA067126

rs_145994565

6 SubmittersRCV000563224 RCV000629709 RCV001704606 RCV004003316

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

Criteria Provided
Conflicting Classifications

CA16617656

rs_1064793403

8 SubmittersRCV000479973 RCV000545794 RCV000574287 RCV000765683 RCV000659891 RCV003470532 RCV004002268

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

Criteria Provided
Conflicting Classifications

CA068066

rs_745772518

5 SubmittersRCV000482393 RCV000580006 RCV000705166 RCV004806350

NM_000179.3(MSH6):c.1933G>T (p.Glu645Ter)

SNV
Germline

Chr2:47799916

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

CA16617661

rs_1064795591

6 SubmittersRCV000490938 RCV000483556 RCV000685973 RCV003449220 RCV003464024

NM_000179.3(MSH6):c.2122G>T (p.Glu708Ter)

SNV
Germline

Chr2:47800105

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16617667

rs_1064795960

3 SubmittersRCV000491313 RCV000486081 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
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA16617670

rs_749746725

5 SubmittersRCV000483131 RCV000571852 RCV004003395 RCV001238127

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
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Condition: not provided
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA068793

rs_587781462

10 SubmittersRCV000542142 RCV000580933 RCV000662407 RCV000765686 RCV001284514 RCV004002290 RCV004568160

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.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.2753A>G (p.His918Arg)

SNV
Germline

Chr2:47800736

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

CA069591

rs_754948438

7 SubmittersRCV000480774 RCV000774604 RCV001071302 RCV003470525 RCV004002247 RCV003387852

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
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16617688

rs_1064794943

4 SubmittersRCV000478571 RCV001037717 RCV003449211 RCV002436544

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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070513

rs_780345806

5 SubmittersRCV000482150 RCV000570886 RCV000560746 RCV004003362

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.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
MSH6-related disorder
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA16617720

rs_184131049

9 SubmittersRCV000482748 RCV000491185 RCV000707566 RCV000986744 RCV004541518 RCV003479136 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

Criteria Provided
Conflicting Classifications

CA16617724

rs_545466048

3 SubmittersRCV000479661 RCV001081841 RCV004002302

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

5 SubmittersRCV000759815 RCV000773113 RCV004003309

NM_000249.4(MLH1):c.563C>T (p.Ala188Val)

SNV
Germline

Chr3:37011837

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA036814

rs_777971431

8 SubmittersRCV000484514 RCV000542526 RCV000574007 RCV003476160 RCV004526688 RCV004003315

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

10 SubmittersRCV000481539 RCV000588239 RCV000817498 RCV001805097 RCV002431389 RCV003449165

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
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA16618498

rs_749727182

8 SubmittersRCV000483031 RCV000548259 RCV000561065 RCV001821390 RCV004002274 RCV003470536

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.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.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

Criteria Provided
Multiple Submitters
No Conflicts

CA16618542

rs_1064795705

6 SubmittersRCV000481277 RCV000569035 RCV003449226 RCV004806364

NM_000321.3(RB1):c.607+1G>A

SNV
Germline

Chr13:48349024

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16619811

rs_587776789

7 SubmittersRCV000483814 RCV000492670 RCV000786882 RCV002525820

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

Reviewed By Expert Panel

CA346728044

rs_587779101

5 SubmittersRCV000490580 RCV001856915 RCV002404286 RCV004722826

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346728465

rs_28929483

3 SubmittersRCV002413352 RCV003449268 RCV004701551

NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly)

SNV
Germline

Chr2:47475244

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA346728864

rs_1085308057

4 SubmittersRCV000490598 RCV000491547 RCV001039917

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
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma
Breast and/or ovarian cancer
Lynch syndrome
Condition: not provided
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA071525

rs_769279475

10 SubmittersRCV001020758 RCV001041513 RCV001249983 RCV002475965 RCV003492074 RCV004003433 RCV003235247 RCV004568605

NM_000251.3(MSH2):c.211+1G>T

SNV
Germline

Chr2:47403403

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346729068

rs_1114167883

7 SubmittersRCV000491082 RCV000529790 RCV000507775 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.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.940C>T (p.Gln314Ter)

SNV
Germline

Chr2:47414416

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346733020

rs_1114167845

4 SubmittersRCV000491147 RCV000693833 RCV003449366 RCV004701554

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

6 SubmittersRCV000491819 RCV001229248 RCV001800711 RCV003449349

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

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch-like syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346727215

rs_1114167852

4 SubmittersRCV000491735 RCV000780446 RCV001249922 RCV003449369

NM_000251.3(MSH2):c.1684G>T (p.Glu562Ter)

SNV
Germline

Chr2:47470987

Pathogenic

Hereditary cancer-predisposing syndrome
Gastric cancer
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728082

rs_1114167816

4 SubmittersRCV000491179 RCV003159593 RCV003449344

NM_000251.3(MSH2):c.1757C>G (p.Ser586Ter)

SNV
Germline

Chr2:47471060

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346728237

rs_1114167854

3 SubmittersRCV000491644 RCV000657671 RCV003449370

NM_000251.3(MSH2):c.1901T>G (p.Leu634Ter)

SNV
Germline

Chr2:47475166

Pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346728596

rs_1114167811

3 SubmittersRCV000490923 RCV000502231 RCV003449341

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
Lynch syndrome 1
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346729189

rs_63750232

5 SubmittersRCV000490880 RCV000659883 RCV000664310 RCV001209603

NM_000251.3(MSH2):c.2081T>C (p.Phe694Ser)

SNV
Germline

Chr2:47476442

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346729201

rs_1114167857

4 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.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

Criteria Provided
Multiple Submitters
No Conflicts

CA346731306

rs_267608020

3 SubmittersRCV000491804 RCV003449378

NM_000251.3(MSH2):c.2635-1G>C

SNV
Germline

Chr2:47482778

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

CA346731308

rs_267608020

3 SubmittersRCV000491490 RCV003449376 RCV001069463

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
MSH6-related disorder
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068021

rs_200944853

8 SubmittersRCV000490967 RCV000549468 RCV000759128 RCV004535548 RCV003464056 RCV004003459

NM_000179.3(MSH6):c.154G>T (p.Glu52Ter)

SNV
Germline

Chr2:47783387

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346734949

rs_1114167719

4 SubmittersRCV000491318 RCV001383954 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346739195

rs_1114167725

4 SubmittersRCV000491365 RCV000690593 RCV001001010 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
Lynch syndrome 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346741265

rs_1114167804

4 SubmittersRCV000491015 RCV001063240 RCV003449337 RCV003441895

NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter)

SNV
Germline

Chr2:47799098

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

CA346741989

rs_1114167731

7 SubmittersRCV000491992 RCV001851339 RCV001782978 RCV003449310 RCV003464049

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

Criteria Provided
Conflicting Classifications

CA067775

rs_749012012

5 SubmittersRCV000491991 RCV000523733 RCV000792665 RCV004806372

NM_000179.3(MSH6):c.1607G>C (p.Ser536Thr)

SNV
Germline

Chr2:47799590

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346746995

rs_587782352

5 SubmittersRCV000491862 RCV000822280 RCV003464048 RCV004003456

NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter)

SNV
Germline

Chr2:47799952

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346750600

rs_1114167709

7 SubmittersRCV000494682 RCV000491722 RCV001204100 RCV001293606 RCV003449296 RCV004003454

NM_000179.3(MSH6):c.2910G>A (p.Trp970Ter)

SNV
Germline

Chr2:47800893

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346756153

rs_765411990

5 SubmittersRCV000491637 RCV000657724 RCV003449331 RCV003114616

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

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

Criteria Provided
Conflicting Classifications

CA346756599

rs_751035257

4 SubmittersRCV000521749 RCV000490990 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

Criteria Provided
Multiple Submitters
No Conflicts

CA346758771

rs_1114167793

2 SubmittersRCV000491480 RCV003449335

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

4 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
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346760597

rs_1114167688

4 SubmittersRCV000491433 RCV003449281 RCV002523978 RCV004003451

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

3 SubmittersRCV000491034 RCV000664316 RCV002523440

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
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA46719891

rs_1051564593

7 SubmittersRCV000491517 RCV000759147 RCV000797850 RCV003316642 RCV004003460 RCV003464057

NM_000179.3(MSH6):c.4001+1G>C

SNV
Germline

Chr2:47806652

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346761612

rs_1114167729

3 SubmittersRCV000490987 RCV000588908 RCV003449309

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 colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA46704739

rs_267608001

5 SubmittersRCV000504524 RCV000700706 RCV001251330 RCV002431453 RCV003449405

NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter)

SNV
Germline

Chr2:47478486

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346730246

rs_202145681

6 SubmittersRCV000500713 RCV001353705 RCV003449406 RCV002446975 RCV001865590

NM_000251.3(MSH2):c.2656G>T (p.Glu886Ter)

SNV
Germline

Chr2:47482800

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346731415

rs_1230083633

4 SubmittersRCV000501100 RCV000808700 RCV002455962 RCV003449408

NM_000179.3(MSH6):c.2342C>T (p.Pro781Leu)

SNV
Germline

Chr2:47800325

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346753452

rs_1553413710

5 SubmittersRCV000589271 RCV000664307 RCV004023356 RCV004701565 RCV002527180

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

Criteria Provided
Conflicting Classifications

CA069854

rs_780485157

5 SubmittersRCV000499422 RCV000573654 RCV001350778 RCV003470622

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

Reviewed By Expert Panel

CA352045762

rs_63751448

6 SubmittersRCV000567811 RCV000680199 RCV001212266 RCV001355963 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
Lynch syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA153242095

rs_988423880

9 SubmittersRCV000500977 RCV000772161 RCV000818274 RCV004806377 RCV001523839 RCV003449416 RCV003126761

NM_000535.7(PMS2):c.299A>G (p.Gln100Arg)

SNV
Germline/somatic

Chr7:6003744

Conflicting classifications of pathogenicity

Lynch syndrome
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_747771951

5 SubmittersRCV000758690 RCV001355159 RCV001857068 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.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

Criteria Provided
Conflicting Classifications

CA346724650

rs_557339938

7 SubmittersRCV000541857 RCV000572189 RCV000986669 RCV004003546 RCV005000053

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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729326

rs_587779139

6 SubmittersRCV000508020 RCV000776722 RCV001539955 RCV002527341 RCV004003548

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
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729718

rs_63751155

5 SubmittersRCV000507559 RCV001219215 RCV001250042 RCV002431464 RCV003449448

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

Reviewed By Expert Panel

CA346729765

rs_63751119

6 SubmittersRCV000508314 RCV000680198 RCV001014940 RCV003593976

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

Criteria Provided
Conflicting Classifications

CA46687949

rs_998365223

6 SubmittersRCV000506243 RCV000630399 RCV000772631 RCV004806382

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_000249.4(MLH1):c.454-10T>G

SNV
Germline

Chr3:37008804

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA542218413

rs_1260098414

3 SubmittersRCV000506460 RCV001392293 RCV004003543

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

8 SubmittersRCV000507540 RCV000530268 RCV000662813 RCV001026032 RCV004003553

NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)

SNV
Germline

Chr7:6003981

Pathogenic/Likely 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
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346749316

rs_756043669

4 SubmittersRCV000507042 RCV000657686 RCV003449451 RCV004943939

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

4 SubmittersRCV000515776 RCV001344438 RCV002438241

NM_000251.3(MSH2):c.645+2T>C

SNV
Germline

Chr2:47410374

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346731228

rs_876658996

6 SubmittersRCV000520097 RCV000606441 RCV002367733 RCV001378494 RCV004568669

NM_000251.3(MSH2):c.646-13T>C

SNV
Germline

Chr2:47412401

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA039794

rs_761205332

6 SubmittersRCV000521261 RCV001356013 RCV000583363 RCV001553591 RCV002060268 RCV004003605

NM_000251.3(MSH2):c.999T>G (p.Cys333Trp)

SNV
Germline

Chr2:47416352

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346733125

rs_1553353167

3 SubmittersRCV000521057 RCV003449485 RCV002384007

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

7 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

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346749280

rs_1553413178

3 SubmittersRCV000523447 RCV001036493 RCV003449482

NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)

SNV
Germline/somatic

Chr3:37040294

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA352060789

rs_63751596

7 SubmittersRCV000520479 RCV001093684 RCV001046224 RCV001249931 RCV001012628 RCV003470652

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

Criteria Provided
Multiple Submitters
No Conflicts

CA366736386

rs_1554294393

5 SubmittersRCV000520083 RCV000573476 RCV003449478

NM_000535.7(PMS2):c.1987G>T (p.Glu663Ter)

SNV
Germline

Chr7:5986778

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366738938

rs_1554297061

3 SubmittersRCV000521070 RCV000574914 RCV003449484

NM_000535.7(PMS2):c.3G>A (p.Met1Ile)

SNV
Germline

Chr7:6009017

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA366745251

rs_1554309086

5 SubmittersRCV000535555 RCV000519055 RCV003449491 RCV000569016

NM_000251.3(MSH2):c.222T>A (p.Asn74Lys)

SNV
Germline

Chr2:47408411

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729470

rs_1553350075

3 SubmittersRCV000537127 RCV003372741 RCV004003744

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

Criteria Provided
Conflicting Classifications

CA040694

rs_758403441

4 SubmittersRCV000544343 RCV001764526 RCV002289719 RCV004023722

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

Criteria Provided
Conflicting Classifications

CA425972522

rs_1553353105

5 SubmittersRCV000557307 RCV000563808 RCV004003757

NM_000251.3(MSH2):c.35A>C (p.Glu12Ala)

SNV
Germline

Chr2:47403226

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346728510

rs_1553348722

3 SubmittersRCV000530789 RCV003470713 RCV003362822

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 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346728981

rs_587779102

6 SubmittersRCV000525199 RCV001012654 RCV001260343 RCV003459177 RCV004003737

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

7 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
Hereditary cancer-predisposing syndrome
Condition: not provided
MSH2-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46684227

rs_1021303606

6 SubmittersRCV000540995 RCV001185309 RCV001550959 RCV004527636 RCV004806415

NM_000251.3(MSH2):c.2211-7G>A

SNV
Germline

Chr2:47478265

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA658655739

rs_764972956

5 SubmittersRCV001193291 RCV001393988 RCV003584645 RCV004003743

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA027338

rs_201059765

4 SubmittersRCV000547106 RCV000774563 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

Criteria Provided
Conflicting Classifications

CA346730217

rs_141523959

4 SubmittersRCV000559989 RCV002456045 RCV004003748 RCV005000122

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
Condition: not provided
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731558

rs_786203553

7 SubmittersRCV000539916 RCV000561718 RCV001357777 RCV003441913 RCV003459180 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

5 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

5 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.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

7 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_000251.3(MSH2):c.2563C>T (p.Gln855Ter)

SNV
Germline

Chr2:47480800

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346730930

rs_1553370404

4 SubmittersRCV000526846 RCV002431520 RCV003449540 RCV003320673

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

Criteria Provided
Conflicting Classifications

CA346731004

rs_1313098392

4 SubmittersRCV000547670 RCV001016009 RCV004003749

NM_000251.3(MSH2):c.2661C>G (p.Phe887Leu)

SNV
Germline

Chr2:47482805

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731442

rs_1290935051

5 SubmittersRCV000526536 RCV001193289 RCV002289718 RCV002431522 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

Criteria Provided
Conflicting Classifications

CA067335

rs_777101467

5 SubmittersRCV000551703 RCV000568501 RCV004800446 RCV004806395

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

Criteria Provided
Conflicting Classifications

CA346740105

rs_752135996

4 SubmittersRCV000552704 RCV000777228 RCV004003703

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

Criteria Provided
Conflicting Classifications

CA46678574

rs_63749984

5 SubmittersRCV000526049 RCV000579804 RCV001584241 RCV004003753

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

Criteria Provided
Conflicting Classifications

CA532705780

rs_1464965737

3 SubmittersRCV000559786 RCV002456043 RCV004003696

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_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.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

Criteria Provided
Conflicting Classifications

CA028675

rs_138049198

6 SubmittersRCV000570348 RCV000679291 RCV001078541 RCV004003735

NM_000251.3(MSH2):c.1476G>A (p.Met492Ile)

SNV
Germline

Chr2:47463120

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346727075

rs_1553365792

4 SubmittersRCV000553969 RCV004806407 RCV003159731 RCV003459176

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

Criteria Provided
Conflicting Classifications

CA031369

rs_778152746

6 SubmittersRCV000556013 RCV000570637 RCV000588090 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
Mismatch repair cancer syndrome 2
Lynch syndrome 1
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
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346753965

rs_1434270332

4 SubmittersRCV000547711 RCV002282203 RCV001015434 RCV004806398

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

4 SubmittersRCV000553342 RCV000679305 RCV002456044 RCV004003745

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

Criteria Provided
Conflicting Classifications

CA036330

rs_779729016

6 SubmittersRCV000550167 RCV000567964 RCV003459179 RCV004806410

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

5 SubmittersRCV000553191 RCV001019819 RCV001200628 RCV004806400

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.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

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

5 SubmittersRCV000551310 RCV001189638 RCV003449501

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

5 SubmittersRCV000537305 RCV000774617 RCV001140557

NM_000179.3(MSH6):c.945T>G (p.Ser315=)

SNV
Germline

Chr2:47798928

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA426120632

rs_761581941

9 SubmittersRCV000562002 RCV000781580 RCV000827332 RCV001079303 RCV004003707

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.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

6 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

Criteria Provided
Conflicting Classifications

CA068496

rs_749711246

8 SubmittersRCV000550483 RCV000572538 RCV001548306 RCV004003671 RCV004740307

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
Endometrial carcinoma
not specified
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346755166

rs_587782593

8 SubmittersRCV000529411 RCV000581939 RCV003459169 RCV001000818 RCV004003681 RCV004546513

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

Criteria Provided
Conflicting Classifications

CA069556

rs_761622304

8 SubmittersRCV000560703 RCV000566003 RCV000708881 RCV001558112 RCV003459170

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
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346755398

rs_1553414094

5 SubmittersRCV000536613 RCV002289716 RCV002438282 RCV003478107 RCV004003682

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

Criteria Provided
Conflicting Classifications

CA46717040

rs_904846776

8 SubmittersRCV000543217 RCV000572853 RCV000588973 RCV003470704 RCV004003694

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

Criteria Provided
Multiple Submitters
No Conflicts

CA352062181

rs_267607856

3 SubmittersRCV000550081 RCV000758580 RCV002413436

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.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.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_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.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

Criteria Provided
Conflicting Classifications

CA051535

rs_775445157

8 SubmittersRCV000556803 RCV000564413 RCV000781740 RCV001568558 RCV003338645 RCV004003768

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
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA042611

rs_776725795

5 SubmittersRCV000551665 RCV000987835 RCV001010398 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.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

Criteria Provided
Conflicting Classifications

CA426119404

rs_775554736

7 SubmittersRCV000575417 RCV000979908 RCV002510922 RCV004000864

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
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA346729713

rs_1183145967

7 SubmittersRCV000572927 RCV001575414 RCV001858103 RCV003459289 RCV004000847 RCV003320690

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

Criteria Provided
Conflicting Classifications

CA029814

rs_768661914

6 SubmittersRCV000560975 RCV001867892 RCV003447542 RCV004586803 RCV005000286

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

Criteria Provided
Conflicting Classifications

CA038871

rs_759712763

5 SubmittersRCV000630061 RCV000568245 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.27G>A (p.Leu9=)

SNV
Germline

Chr2:47403218

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA426119361

rs_1553348705

5 SubmittersRCV001552391 RCV000573752 RCV000943982 RCV004000861

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

Criteria Provided
Conflicting Classifications

CA029754

rs_587778523

7 SubmittersRCV000567489 RCV000662462 RCV001039308 RCV003153734 RCV004000846

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

4 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.1661G>A (p.Ser554Asn)

SNV
Germline

Chr2:47466808

Pathogenic/Likely 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

CA030195

rs_63750597

5 SubmittersRCV000570315 RCV000802215 RCV001310202 RCV002497211

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

6 SubmittersRCV000572560 RCV000708829 RCV000629913 RCV002483525 RCV003320694

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.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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA033928

rs_778940305

5 SubmittersRCV000574792 RCV001867893 RCV004001033 RCV003465237

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

6 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

5 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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA036657

rs_753459308

7 SubmittersRCV000574140 RCV000679307 RCV000694840 RCV004000859 RCV003470822

NM_000251.3(MSH2):c.2571T>G (p.Ile857Met)

SNV
Germline

Chr2:47480808

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346730953

rs_1400051085

4 SubmittersRCV000575878 RCV000823779 RCV004000855 RCV000780442

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

Criteria Provided
Conflicting Classifications

CA425971003

rs_1368565489

8 SubmittersRCV000569433 RCV001439849 RCV001692208 RCV004000860 RCV004530598

NM_000251.3(MSH2):c.1067T>A (p.Ile356Lys)

SNV
Germline

Chr2:47416420

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
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346726967

rs_1553365763

4 SubmittersRCV000573636 RCV001043758 RCV002497215 RCV004001118

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

3 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
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346724826

rs_1553361303

8 SubmittersRCV000567509 RCV000759100 RCV000685208 RCV003459384 RCV004001116

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
Condition: not provided
not specified
Endometrial carcinoma
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA46688635

rs_768444916

8 SubmittersRCV000572033 RCV000629809 RCV001566523 RCV002265801 RCV003465183 RCV003316740

NM_000251.3(MSH2):c.1446A>C (p.Arg482Ser)

SNV
Germline

Chr2:47463090

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346726920

rs_1553365751

2 SubmittersRCV000571070 RCV004569139

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.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_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
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46712554

rs_890670494

7 SubmittersRCV000569579 RCV000629815 RCV003222042 RCV003987605 RCV004000905

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

Criteria Provided
Conflicting Classifications

CA073615

rs_562487553

4 SubmittersRCV000562657 RCV000630127 RCV004001067

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

Criteria Provided
Conflicting Classifications

CA346729275

rs_63750108

5 SubmittersRCV000563438 RCV000629938 RCV004000854 RCV004735632

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

3 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

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA346729821

rs_1060502038

4 SubmittersRCV000564777 RCV001844200 RCV001858296 RCV003451247

NM_000179.3(MSH6):c.1308C>A (p.Tyr436Ter)

SNV
Germline

Chr2:47799291

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA346744333

rs_761037236

2 SubmittersRCV000573915 RCV003451255

NM_000179.3(MSH6):c.220G>T (p.Gly74Ter)

SNV
Germline

Chr2:47783453

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346747546

rs_63749973

3 SubmittersRCV000574484 RCV003451270 RCV003459390

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
Lynch syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346734569

rs_1223476490

6 SubmittersRCV000575294 RCV000689038 RCV001292699 RCV000985851

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.2075A>G (p.Lys692Arg)

SNV
Germline

Chr2:47800058

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA46710290

rs_975991506

7 SubmittersRCV000561357 RCV000698328 RCV001824831 RCV002289777 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

Criteria Provided
Conflicting Classifications

CA426121617

rs_537604099

6 SubmittersRCV000565256 RCV000630416 RCV000758624 RCV001001258

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
MSH6-related disorder
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA068575

rs_35552856

9 SubmittersRCV000564228 RCV000688061 RCV000765685 RCV001591322 RCV003470823 RCV004740330 RCV004000868

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

Criteria Provided
Conflicting Classifications

CA346738710

rs_786204186

6 SubmittersRCV000570685 RCV001070096 RCV001844201 RCV004001062

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
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA069760

rs_778287080

8 SubmittersRCV000561841 RCV001355686 RCV001374579 RCV001764641 RCV004000884 RCV000629885

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

Criteria Provided
Conflicting Classifications

CA346750185

rs_1553413288

2 SubmittersRCV000564992 RCV003451218

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.2931C>A (p.Tyr977Ter)

SNV
Germline

Chr2:47800914

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346756202

rs_63750111

4 SubmittersRCV000561109 RCV000630118 RCV003451254

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

5 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.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

5 SubmittersRCV000570586 RCV000630109 RCV001174877 RCV003126822 RCV004802195

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

Criteria Provided
Conflicting Classifications

CA433065547

rs_63751191

4 SubmittersRCV000564871 RCV000934452 RCV003155236 RCV004000836

NM_000179.3(MSH6):c.3801+4T>C

SNV
Germline

Chr2:47806362

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA072085

rs_758830540

7 SubmittersRCV000567341 RCV000781586 RCV000630256 RCV004001049 RCV004530606

NM_000249.4(MLH1):c.1989+2T>C

SNV
Germline

Chr3:37048611

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA352066025

rs_1553664119

4 SubmittersRCV000564282 RCV003451274 RCV003144386 RCV004001191

NM_000249.4(MLH1):c.432C>T (p.Gly144=)

SNV
Germline

Chr3:37007042

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA433067110

rs_1553642108

4 SubmittersRCV000576045 RCV001066875 RCV004001115

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.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.1760G>A (p.Ser587Asn)

SNV
Germline

Chr7:5987005

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA045499

rs_762100304

10 SubmittersRCV000569664 RCV000662639 RCV000629864 RCV001356078 RCV001821663

NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter)

SNV
Germline

Chr7:5987159

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA366741495

rs_1554297488

7 SubmittersRCV000564667 RCV003315438 RCV003758846 RCV003451290 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

Criteria Provided
Conflicting Classifications

CA044980

rs_779150753

3 SubmittersRCV000574646 RCV000695347 RCV004000908

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

6 SubmittersRCV000569527 RCV000629904 RCV001755926 RCV004000894

NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)

SNV
Germline

Chr7:5987294

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366741867

rs_1064794577

5 SubmittersRCV000569354 RCV000822764 RCV000984324

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.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

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA153239468

rs_939641251

4 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

Criteria Provided
Multiple Submitters
No Conflicts

CA366744819

rs_1554304979

6 SubmittersRCV000564836 RCV000630233 RCV001545463 RCV003465282 RCV004001202

NM_000535.7(PMS2):c.164-1G>A

SNV
Germline

Chr7:6004059

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA044881

rs_763308607

6 SubmittersRCV000564457 RCV001280603 RCV001378577 RCV003451261 RCV004719882

NM_000535.7(PMS2):c.535A>T (p.Lys179Ter)

SNV
Germline

Chr7:6002455

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA366744151

rs_1554303861

3 SubmittersRCV000574316 RCV003451235 RCV004017678

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_000535.7(PMS2):c.60G>C (p.Arg20=)

SNV
Germline

Chr7:6005995

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA453650334

rs_1554306548

4 SubmittersRCV000565859 RCV001463104 RCV004001125

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
Condition: not provided
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA46666467

rs_530071578

6 SubmittersRCV000580313 RCV000698385 RCV003478306 RCV004001258 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

Criteria Provided
Conflicting Classifications

CA346734041

rs_146567853

4 SubmittersRCV000580175 RCV000696098 RCV004001255

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
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346729600

rs_1443234544

7 SubmittersRCV000580951 RCV000629862 RCV001193290 RCV001090210 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_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_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

Criteria Provided
Conflicting Classifications

CA037199

rs_768983827

6 SubmittersRCV000580301 RCV000629841 RCV001193286 RCV002245022 RCV004001259

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

Criteria Provided
Conflicting Classifications

CA346755351

rs_1436232875

5 SubmittersRCV000580164 RCV000695435 RCV003459430 RCV004001269

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
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346737166

rs_1321666742

8 SubmittersRCV000581061 RCV000797264 RCV001284187 RCV001779017 RCV003459433 RCV004001272

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_000251.3(MSH2):c.-5T>G

SNV
Germline

Chr2:47403187

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA658683193

rs_1553348652

4 SubmittersRCV000583705 RCV004002325 RCV003767309

NM_000251.3(MSH2):c.49G>A (p.Val17Ile)

SNV
Germline

Chr2:47403240

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346728561

rs_63750966

4 SubmittersRCV000584099 RCV003459444 RCV002530801

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
Lynch syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA658683192

rs_1064795641

5 SubmittersRCV000581194 RCV001358264 RCV001860085 RCV004002326 RCV003150287

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.1369A>G (p.Thr457Ala)

SNV
Germline

Chr2:47445640

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346724787

rs_1445965781

5 SubmittersRCV000583346 RCV001860087 RCV004782455 RCV004002329

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
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA532705013

rs_749778569

5 SubmittersRCV000582182 RCV001323272 RCV001731797 RCV004002338 RCV004735635

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.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.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.1803G>C (p.Gln601His)

SNV
Germline

Chr2:47475068

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA346728326

rs_1553368556

4 SubmittersRCV000584510 RCV000735960 RCV000796750

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_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

Criteria Provided
Conflicting Classifications

CA073534

rs_756935130

5 SubmittersRCV000583660 RCV000806695 RCV002466543 RCV004807016

NM_000179.3(MSH6):c.628-13C>G

SNV
Germline

Chr2:47798598

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA073220

rs_538280815

7 SubmittersRCV000584305 RCV001142202 RCV001712596 RCV002061863 RCV001357031 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.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

Criteria Provided
Conflicting Classifications

CA346760558

rs_369778514

6 SubmittersRCV000584693 RCV000587024 RCV000629874 RCV000610333 RCV004002353

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

3 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.804-15A>G

SNV
Germline

Chr7:5995648

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA572547855

rs_1448706115

5 SubmittersRCV000581748 RCV001293510 RCV001662632 RCV002061909 RCV004002371

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

Criteria Provided
Conflicting Classifications

CA658683457

rs_1554302551

4 SubmittersRCV000582218 RCV003594000 RCV004807019

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

Criteria Provided
Conflicting Classifications

CA453650319

rs_1554306525

6 SubmittersRCV000582802 RCV001433232 RCV003155240 RCV003992336 RCV004002370

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

3 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
Lynch syndrome 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA366742765

rs_1437858319

5 SubmittersRCV000581876 RCV001193817 RCV003451309 RCV002509456

NM_000535.7(PMS2):c.706-3C>T

SNV
Germline

Chr7:5997426

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome
not specified

Criteria Provided
Conflicting Classifications

CA572548192

rs_1229860023

6 SubmittersRCV000630290 RCV000584358 RCV000987845 RCV004002368 RCV004596296

NM_000535.7(PMS2):c.354-7C>T

SNV
Germline

Chr7:6002643

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA049526

rs_758471869

6 SubmittersRCV000583777 RCV000662819 RCV000590705 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

Criteria Provided
Multiple Submitters
No Conflicts

CA366744852

rs_730881914

3 SubmittersRCV000584111 RCV000657694 RCV003451311

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
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346742114

rs_1432436629

4 SubmittersRCV000583626 RCV001867896 RCV003451319 RCV002325116

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

Criteria Provided
Conflicting Classifications

CA346724761

rs_1060502025

4 SubmittersRCV000589611 RCV001220102 RCV002384283 RCV003451329

NM_000179.3(MSH6):c.3646+1G>T

SNV
Germline/somatic

Chr2:47805708

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346760640

rs_1553332772

5 SubmittersRCV000587991 RCV001860121 RCV003451326 RCV004669047 RCV003278922

NM_000179.3(MSH6):c.3647-10A>C

SNV
Germline

Chr2:47806194

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA071697

rs_756569687

4 SubmittersRCV000589989 RCV000774610 RCV001502390 RCV004802282

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA352035488

rs_63750206

4 SubmittersRCV000589590 RCV000700612 RCV003388588

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_000179.3(MSH6):c.1993G>T (p.Glu665Ter)

SNV
Germline

Chr2:47799976

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 5
MSH6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA346750651

rs_1333555322

5 SubmittersRCV000602898 RCV003117420 RCV002420653 RCV003451452 RCV004527682

NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter)

SNV
Germline

Chr2:47800402

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346754007

rs_587779923

4 SubmittersRCV000601053 RCV000688489 RCV003316777 RCV004944019

NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter)

SNV
Germline

Chr7:5978632

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA366736632

rs_1554294448

4 SubmittersRCV000607235 RCV002431760 RCV003758874 RCV003451360

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 cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA346731985

rs_1212577306

6 SubmittersRCV000777452 RCV000629704 RCV002233918 RCV004568355 RCV004002771

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.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.2129C>G (p.Ala710Gly)

SNV
Germline

Chr2:47476490

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA034290

rs_373717132

4 SubmittersRCV000629899 RCV004002780 RCV002420671

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA346738562

rs_1553411391

4 SubmittersRCV000629824 RCV001805232 RCV003451488

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
Mismatch repair cancer syndrome 3
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA46703403

rs_148517241

5 SubmittersRCV000630129 RCV001024658 RCV002483771 RCV004002791 RCV004568365

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

Criteria Provided
Conflicting Classifications

CA426120975

rs_1553413086

5 SubmittersRCV000630326 RCV001188151 RCV004807058

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

Criteria Provided
Conflicting Classifications

CA346728336

rs_1553368568

5 SubmittersRCV000629723 RCV001013211 RCV001731820 RCV004002772

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

Criteria Provided
Conflicting Classifications

CA346729289

rs_138465383

4 SubmittersRCV000629968 RCV000777516 RCV004568362

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

5 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.3160A>G (p.Ile1054Val)

SNV
Germline

Chr2:47801143

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA070133

rs_267608075

4 SubmittersRCV000630191 RCV001018885 RCV004002795

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

Criteria Provided
Conflicting Classifications

CA346761006

rs_1469961964

4 SubmittersRCV000629876 RCV002343196 RCV004002778 RCV004568359

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

Criteria Provided
Conflicting Classifications

CA433079515

rs_147939838

5 SubmittersRCV000630321 RCV001011502 RCV002264965 RCV004002801

NM_000249.4(MLH1):c.1051G>A (p.Gly351Arg)

SNV
Germline

Chr3:37025649

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
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA352052043

rs_1437454428

7 SubmittersRCV000629849 RCV000985774 RCV001017137 RCV002492942 RCV003459491 RCV004002777

NM_000535.7(PMS2):c.930C>T (p.Tyr310=)

SNV
Germline

Chr7:5992031

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA453645313

rs_1405625567

3 SubmittersRCV000630341 RCV004002802 RCV002377348

NM_000535.7(PMS2):c.353G>A (p.Ser118Asn)

SNV
Germline

Chr7:6003690

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA366744522

rs_1394474494

7 SubmittersRCV000629959 RCV002457987 RCV001692240 RCV001358610 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_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

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

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
Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_864622153

5 SubmittersRCV000657688 RCV000705277 RCV003451603 RCV002397335

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

rs_1553413305

4 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

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
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554297342

4 SubmittersRCV000657706 RCV003758897 RCV003451606

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

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

rs_1060502929

3 SubmittersRCV000659886 RCV003362884 RCV004004199

NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter)

SNV
Germline

Chr2:47408543

Pathogenic/Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

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

Criteria Provided
Conflicting Classifications

rs_753237286

8 SubmittersRCV000662549 RCV001019794 RCV001229515 RCV001584524 RCV004004205

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

rs_767536391

6 SubmittersRCV000662919 RCV000838618 RCV001444969 RCV003584700

NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter)

SNV
Germline

Chr2:47790975

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1553333039

3 SubmittersRCV000662575 RCV003163050

NM_000535.7(PMS2):c.2276-2A>C

SNV
Unknown

Chr7:5977759

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

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

Criteria Provided
Conflicting Classifications

rs_758225108

8 SubmittersRCV000662652 RCV001244703 RCV001797773 RCV002255499

NM_000535.7(PMS2):c.2175-11G>T

SNV
Germline

Chr7:5978707

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

rs_538914402

4 SubmittersRCV000662651 RCV003584698 RCV003758899

NM_000535.7(PMS2):c.1798A>G (p.Met600Val)

SNV
Germline

Chr7:5986967

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1304634005

9 SubmittersRCV000662640 RCV001061729 RCV000772030 RCV001030721 RCV001358228 RCV004004206

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

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

rs_772491283

4 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

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

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

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

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

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

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

rs_1559543768

3 SubmittersRCV000680200 RCV001861879 RCV002369811

NM_000535.7(PMS2):c.706-2A>T

SNV
Germline

Chr7:5997425

Likely pathogenic

Lynch syndrome 4
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

rs_745487791

4 SubmittersRCV003485629 RCV000681963 RCV001379300

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

Criteria Provided
Conflicting Classifications

rs_1257347271

5 SubmittersRCV000706952 RCV000776681 RCV003460988 RCV003999779

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
not specified
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_878853797

4 SubmittersRCV000701344 RCV002424689 RCV003155289 RCV003453490

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

rs_63750126

5 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

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

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

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

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1284087975

4 SubmittersRCV000691943 RCV001525887 RCV004807090

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

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

rs_1558662873

4 SubmittersRCV000685854 RCV003303110 RCV003323684 RCV003453405

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

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

rs_1558459684

5 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

rs_587779065

4 SubmittersRCV000689433 RCV001269518 RCV002352132 RCV003453433

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

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

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

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

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

rs_1558665297

3 SubmittersRCV000695381 RCV002424656 RCV003453460

NM_000179.3(MSH6):c.2551A>G (p.Ser851Gly)

SNV
Germline

Chr2:47800534

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_762352116

6 SubmittersRCV001015904 RCV001775976 RCV002298748 RCV000704606 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

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

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
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_763058648

4 SubmittersRCV000685016 RCV004802350 RCV002255503

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

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

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

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

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

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

rs_1562605623

4 SubmittersRCV000706835 RCV003453507 RCV004944131

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

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

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

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
Hereditary cancer-predisposing syndrome
Lynch syndrome

Reviewed By Expert Panel

rs_1060500702

3 SubmittersRCV000696093 RCV002332456 RCV000781989

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

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

rs_764252217

7 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

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

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

rs_1562604682

4 SubmittersRCV000702280 RCV002442511 RCV003453491 RCV003420251

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

rs_1562664845

6 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

rs_1562678257

5 SubmittersRCV000696743 RCV000777285 RCV003231588 RCV003453466

NM_000179.3(MSH6):c.2665C>T (p.Gln889Ter)

SNV
Germline

Chr2:47800648

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558666177

5 SubmittersRCV000708612 RCV003758910 RCV003453510 RCV003999789

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

Criteria Provided
Conflicting Classifications

rs_766177007

5 SubmittersRCV000708735 RCV000872839 RCV003999790

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

Criteria Provided
Conflicting Classifications

rs_1558519505

5 SubmittersRCV000708839 RCV001014077 RCV001064045

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

rs_1553412354

3 SubmittersRCV000708860 RCV001861934 RCV004944132

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

rs_876659736

6 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

rs_1558466577

4 SubmittersRCV000755026 RCV002334414

NM_000179.3(MSH6):c.2092C>T (p.Gln698Ter)

SNV
Germline

Chr2:47800075

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_63750832

4 SubmittersRCV002282352 RCV002536550 RCV003453537 RCV000755028

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

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

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

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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_587781617

3 SubmittersRCV000758661 RCV003768276 RCV004027162

NM_000251.3(MSH2):c.2095T>C (p.Ser699Pro)

SNV
Germline/somatic

Chr2:47476456

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1428704795

2 SubmittersRCV000758655 RCV004027161

NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg)

SNV
Germline/somatic

Chr2:47478421

Pathogenic/Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colon cancer
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558521929

4 SubmittersRCV000758593 RCV001269395 RCV002442567 RCV003453545

NM_000179.3(MSH6):c.133G>T (p.Gly45Cys)

SNV
Germline/somatic

Chr2:47783366

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_978968846

2 SubmittersRCV000758663 RCV002386319

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_1558661242

3 SubmittersRCV000758621 RCV001194364 RCV002533819

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

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

rs_1558386797

2 SubmittersRCV000758678 RCV002325458

NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp)

SNV
Germline/somatic

Chr2:47804941

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_752212361

5 SubmittersRCV001175727 RCV003453547 RCV004788156 RCV000758614

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

rs_267608125

2 SubmittersRCV000758627 RCV001805839

NM_000179.3(MSH6):c.3964G>A (p.Glu1322Lys)

SNV
Germline/somatic

Chr2:47806614

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1553333707

2 SubmittersRCV001021540 RCV000758616

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

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

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

Criteria Provided
Conflicting Classifications

rs_1559500884

3 SubmittersRCV000758634 RCV001016980 RCV003594028

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

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

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

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

rs_1559591546

2 SubmittersRCV000758636 RCV001855909

NM_000535.7(PMS2):c.2075A>G (p.Asn692Ser)

SNV
Germline/somatic

Chr7:5982923

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1562615666

2 SubmittersRCV003584736 RCV000758681

NM_000535.7(PMS2):c.195T>C (p.Leu65=)

SNV
Germline/somatic

Chr7:6004027

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_780080040

3 SubmittersRCV000758632 RCV002422641

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

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

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

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

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

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

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

rs_1060502885

2 SubmittersRCV000758620 RCV002334421

NM_000179.3(MSH6):c.3438+2T>C

SNV
Germline/somatic

Chr2:47803687

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1033749344

4 SubmittersRCV003453548 RCV000758618 RCV001020307 RCV001377436

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_267607745

3 SubmittersRCV000758639 RCV002352267 RCV003453550

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

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

rs_267607767

1 SubmittersRCV000758641

NM_000249.4(MLH1):c.678-1G>A

SNV
Germline/somatic

Chr3:37014431

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_267607784

6 SubmittersRCV000758642 RCV002360870 RCV001724148 RCV003453552

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_267607771

3 SubmittersRCV000758644 RCV003453553 RCV004027160

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

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

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

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

rs_63751097

7 SubmittersRCV000759849 RCV001061933 RCV001805840 RCV003453560 RCV003999908

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

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

rs_587782408

3 SubmittersRCV000759123 RCV002422644 RCV003453556

NM_000535.7(PMS2):c.1144+1G>C

SNV
Germline

Chr7:5989799

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_373885654

5 SubmittersRCV000759912 RCV001378056 RCV003453563 RCV003303232 RCV004800569

NM_000535.7(PMS2):c.730C>T (p.Gln244Ter)

SNV
Germline

Chr7:5997399

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1562671039

7 SubmittersRCV000760335 RCV001026254 RCV001221708 RCV003453566

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

rs_1419725521

3 SubmittersRCV000761062 RCV001219957 RCV002352272

NM_000251.3(MSH2):c.242G>C (p.Ser81Thr)

SNV
Germline

Chr2:47408431

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1064793491

5 SubmittersRCV001215145 RCV001772025 RCV003999953 RCV000771426

NM_000251.3(MSH2):c.605C>T (p.Pro202Leu)

SNV
Germline

Chr2:47410332

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colon cancer
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_1060502002

6 SubmittersRCV004001498 RCV000802482 RCV000777440 RCV002245663 RCV004569481

NM_000251.3(MSH2):c.958A>G (p.Thr320Ala)

SNV
Germline

Chr2:47416311

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_368982417

5 SubmittersRCV001044734 RCV000771481 RCV003492163 RCV003999955

NM_000251.3(MSH2):c.2439G>C (p.Met813Ile)

SNV
Germline

Chr2:47478500

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_587781678

6 SubmittersRCV000807280 RCV001175571 RCV001356219 RCV000777250 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

rs_35819209

3 SubmittersRCV000774981 RCV004001424

NM_000179.3(MSH6):c.643G>C (p.Val215Leu)

SNV
Germline

Chr2:47798626

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_145959653

5 SubmittersRCV000773188 RCV003148860 RCV003117558 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

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

Criteria Provided
Conflicting Classifications

rs_267608129

6 SubmittersRCV000773996 RCV000780474 RCV002067281 RCV003478463 RCV004001341

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

SNV
Germline

Chr2:47806862

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_752809310

3 SubmittersRCV000773084 RCV004773129 RCV004807138

NM_000535.7(PMS2):c.1068G>A (p.Lys356=)

SNV
Germline

Chr7:5989876

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_528499793

6 SubmittersRCV000938343 RCV001086951 RCV000775365 RCV004001449

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

rs_1562651617

2 SubmittersRCV000776748 RCV003461041

NM_000251.3(MSH2):c.1511-12T>C

SNV
Germline

Chr2:47466646

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_539257378

4 SubmittersRCV001193896 RCV000774567 RCV002067301 RCV004807152

NM_000179.3(MSH6):c.261-6C>G

SNV
Germline

Chr2:47790921

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1558651835

4 SubmittersRCV000772888 RCV002067257 RCV001789783

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

rs_267607884

5 SubmittersRCV000772614 RCV001036557 RCV001310199 RCV002477757

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

rs_772991620

4 SubmittersRCV000780460 RCV002406710 RCV002535673 RCV003461053

NM_000249.4(MLH1):c.1706C>T (p.Ala569Val)

SNV
Germline

Chr3:37042306

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1559578814

7 SubmittersRCV001182842 RCV000780416 RCV000985778 RCV001066113 RCV003467309 RCV004001518

NM_000251.3(MSH2):c.2083G>A (p.Val695Met)

SNV
Germline

Chr2:47476444

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Reviewed By Expert Panel

rs_772491283

3 SubmittersRCV000781997 RCV001014369 RCV004789180

NM_000179.3(MSH6):c.1252T>C (p.Ser418Pro)

SNV
Germline

Chr2:47799235

Likely pathogenic

Lynch syndrome

Reviewed By Expert Panel

rs_1251033858

1 SubmittersRCV000781998

NM_000179.3(MSH6):c.1439T>A (p.Val480Glu)

SNV
Germline

Chr2:47799422

Pathogenic

Lynch syndrome

Reviewed By Expert Panel

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

Reviewed By Expert Panel

rs_1481129490

2 SubmittersRCV000781999 RCV003453614

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

Reviewed By Expert Panel

rs_1481129490

4 SubmittersRCV000782000 RCV001024107 RCV003453615

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

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

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

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

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
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_146017810

3 SubmittersRCV000809070 RCV004001707 RCV003307495

NM_000251.3(MSH2):c.56T>C (p.Phe19Ser)

SNV
Germline

Chr2:47403247

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1320061495

5 SubmittersRCV001024434 RCV000805682 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

Criteria Provided
Multiple Submitters
No Conflicts

rs_730881784

4 SubmittersRCV000799705 RCV001013932 RCV001250031 RCV003453663

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

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

rs_1573436418

4 SubmittersRCV000820762 RCV003307549 RCV004569757 RCV004723243

NM_000251.3(MSH2):c.832G>T (p.Glu278Ter)

SNV
Germline

Chr2:47414308

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558464008

4 SubmittersRCV001811486 RCV000794209 RCV001017577 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

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
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_937218360

5 SubmittersRCV000821073 RCV001010808 RCV002268314 RCV004569758 RCV003328634

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

rs_63750078

3 SubmittersRCV000822443 RCV003453729 RCV003584767

NM_000251.3(MSH2):c.2043A>C (p.Gln681His)

SNV
Germline

Chr2:47476404

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_730881763

4 SubmittersRCV002422813 RCV004001761 RCV003324799 RCV000814388

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1573574086

3 SubmittersRCV000820262 RCV002427049 RCV003453724

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

rs_1553369778

5 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

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

rs_1573579206

3 SubmittersRCV000798885 RCV002424839 RCV003453655

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

rs_1276159036

2 SubmittersRCV000808014 RCV004028636

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

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

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
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_587779233

6 SubmittersRCV000793348 RCV001193700 RCV001257482 RCV001190571 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

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

rs_775815297

3 SubmittersRCV000812013 RCV001257480 RCV002453838

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

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

rs_587779253

4 SubmittersRCV000811578 RCV002440757 RCV003453698 RCV004569673

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

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

rs_1416452389

4 SubmittersRCV000802917 RCV001021479 RCV002271587 RCV004001655

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

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

rs_1554292741

4 SubmittersRCV000819801 RCV002427044 RCV003315255 RCV003453723

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

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

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 4
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_761748894

4 SubmittersRCV000806193 RCV002345813 RCV004569630 RCV004807189

NM_000179.3(MSH6):c.628-3C>T

SNV
Germline

Chr2:47798608

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_3136332

3 SubmittersRCV000809048 RCV001025080 RCV004807192

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060502926

6 SubmittersRCV000800963 RCV000826201 RCV001574493 RCV003453666 RCV003166197 RCV004723203

NM_000179.3(MSH6):c.627+1G>A

SNV
Germline

Chr2:47796064

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1572716545

2 SubmittersRCV000798211 RCV003453653

NM_000249.4(MLH1):c.380+5A>G

SNV
Germline

Chr3:37004479

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1267759029

4 SubmittersRCV000791483 RCV001356888 RCV004807171 RCV003344041

NM_000535.7(PMS2):c.2275+1G>C

SNV
Germline

Chr7:5978595

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554294393

5 SubmittersRCV000823059 RCV002442765 RCV003453733

NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter)

SNV
Germline

Chr2:47783257

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_746306598

4 SubmittersRCV000825599 RCV002536057 RCV002427080 RCV003453747

NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)

SNV
Germline

Chr2:47806602

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1572747685

4 SubmittersRCV000826178 RCV002352477 RCV003594042 RCV003453759

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

Criteria Provided
Conflicting Classifications

rs_1575508554

4 SubmittersRCV000827271 RCV002442771 RCV003758939 RCV004807211

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

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

Criteria Provided
Conflicting Classifications

rs_1572746044

5 SubmittersRCV000862856 RCV001021193 RCV001193727 RCV004002921

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

rs_1553370386

4 SubmittersRCV000917330 RCV001015910 RCV001142094

NM_000179.3(MSH6):c.195A>G (p.Ser65=)

SNV
Germline

Chr2:47783428

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1572698398

2 SubmittersRCV000932608 RCV004003249

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

Criteria Provided
Conflicting Classifications

rs_1057523564

3 SubmittersRCV000938012 RCV001015548 RCV004003299

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

Criteria Provided
Conflicting Classifications

rs_1405000889

4 SubmittersRCV000939147 RCV000986704 RCV001023729 RCV003478590

NM_000179.3(MSH6):c.1449G>C (p.Val483=)

SNV
Germline

Chr2:47799432

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_35590297

5 SubmittersRCV004004315 RCV001181718 RCV001472017 RCV005001125

NM_000179.3(MSH6):c.1902G>A (p.Leu634=)

SNV
Germline

Chr2:47799885

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1572724876

5 SubmittersRCV002265911 RCV002409244 RCV001422530 RCV004004320 RCV003478591

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

Criteria Provided
Conflicting Classifications

rs_779148982

4 SubmittersRCV001023599 RCV001394957 RCV004003292

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

Criteria Provided
Conflicting Classifications

rs_1242136178

3 SubmittersRCV000985783 RCV002067570 RCV004004414

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

rs_776559145

2 SubmittersRCV000986641 RCV002549673

NM_000251.3(MSH2):c.198C>G (p.Tyr66Ter)

SNV
Germline

Chr2:47403389

Pathogenic

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_730881784

3 SubmittersRCV000986644 RCV002550598 RCV002416267

NM_000251.3(MSH2):c.212-1G>T

SNV
Germline

Chr2:47408400

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_267607914

2 SubmittersRCV000986646 RCV002416268

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

rs_1573437173

2 SubmittersRCV000986648 RCV001858650

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

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

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

Criteria Provided
Conflicting Classifications

rs_768535330

2 SubmittersRCV000986721 RCV001351789

NM_000179.3(MSH6):c.2641G>A (p.Gly881Ser)

SNV
Germline

Chr2:47800624

Conflicting classifications of pathogenicity

Lynch syndrome 5
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_998186339

2 SubmittersRCV000986725 RCV004004417

NM_000179.3(MSH6):c.2892T>A (p.Cys964Ter)

SNV
Unknown

Chr2:47800875

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

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

rs_1114167690

3 SubmittersRCV000986740 RCV002346194 RCV003467542

NM_000535.7(PMS2):c.862C>T (p.Gln288Ter)

SNV
Germline

Chr7:5995575

Pathogenic

Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1583363851

5 SubmittersRCV000987841 RCV002549690 RCV002372709

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

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

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

Criteria Provided
Conflicting Classifications

rs_375561490

3 SubmittersRCV001014004 RCV004588466

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
not specified
Lynch syndrome 1
MSH2-related disorder

Criteria Provided
Conflicting Classifications

rs_878853826

5 SubmittersRCV001027033 RCV001342142 RCV003479266 RCV003989625 RCV004528342

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

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

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

rs_1558459194

3 SubmittersRCV001022796 RCV001060535 RCV004004632

NM_000251.3(MSH2):c.714T>G (p.Tyr238Ter)

SNV
Germline

Chr2:47412482

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_369670665

4 SubmittersRCV001862352 RCV003455135 RCV001026090

NM_000251.3(MSH2):c.809T>C (p.Leu270Pro)

SNV
Germline

Chr2:47414285

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_1573451078

3 SubmittersRCV001027174 RCV001066735 RCV003455140

NM_000251.3(MSH2):c.1105G>A (p.Asp369Asn)

SNV
Germline

Chr2:47429770

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1573484275

4 SubmittersRCV001009904 RCV001066046 RCV004569860 RCV004004478

NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg)

SNV
Germline

Chr2:47429941

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_879254234

3 SubmittersRCV001010702 RCV003594068 RCV003336230

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

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

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

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
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_914610419

4 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

Criteria Provided
Multiple Submitters
No Conflicts

rs_63751409

2 SubmittersRCV001014362 RCV003455083

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_138465383

3 SubmittersRCV001014562 RCV001036842 RCV003455086

NM_000251.3(MSH2):c.2134G>A (p.Val712Ile)

SNV
Germline

Chr2:47476495

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

rs_1573570391

3 SubmittersRCV001014566 RCV003461341 RCV001860766

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

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

rs_775464903

3 SubmittersRCV001015182 RCV001860785 RCV003461347

NM_000251.3(MSH2):c.2386A>G (p.Thr796Ala)

SNV
Germline

Chr2:47478447

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_876660738

3 SubmittersRCV001199895 RCV001015359 RCV003467623

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

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

Criteria Provided
Conflicting Classifications

rs_1573578373

3 SubmittersRCV001015615 RCV003467625

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

rs_63750571

2 SubmittersRCV001015793 RCV003455091

NM_000251.3(MSH2):c.2628A>C (p.Glu876Asp)

SNV
Germline

Chr2:47480865

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1271303836

3 SubmittersRCV001860814 RCV001016084 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

rs_751216225

4 SubmittersRCV001016472 RCV001860831 RCV004004557

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

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

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

Criteria Provided
Conflicting Classifications

rs_1410933611

6 SubmittersRCV001819721 RCV001010181 RCV001296294 RCV004807251 RCV005001127

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

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
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_147136417

5 SubmittersRCV001011856 RCV001215217 RCV001354837 RCV004004504 RCV002279707

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

rs_745483465

5 SubmittersRCV001014787 RCV001222639 RCV003455088 RCV004004537

NM_000179.3(MSH6):c.2736G>A (p.Trp912Ter)

SNV
Germline

Chr2:47800719

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1572728472

3 SubmittersRCV001016441 RCV003455093 RCV002549439

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

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

rs_1572739043

3 SubmittersRCV001020593 RCV001231905 RCV003455112

NM_000179.3(MSH6):c.3818A>G (p.Asn1273Ser)

SNV
Germline

Chr2:47806468

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

rs_201830316

5 SubmittersRCV001021223 RCV004569996 RCV004004611 RCV001861012

NM_000179.3(MSH6):c.3861T>G (p.Tyr1287Ter)

SNV
Germline

Chr2:47806511

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060504739

5 SubmittersRCV001021315 RCV001585927 RCV004004613 RCV003455119 RCV003758986

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

rs_377259633

5 SubmittersRCV001015297 RCV001362342 RCV003461349 RCV003479263

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

rs_1583314135

4 SubmittersRCV001013542 RCV001860742 RCV004807255

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

Criteria Provided
Conflicting Classifications

rs_1583319965

3 SubmittersRCV001011631 RCV001210724 RCV003467596

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

rs_1583323301

3 SubmittersRCV001010298 RCV001232883 RCV004004485

NM_000535.7(PMS2):c.939T>G (p.Tyr313Ter)

SNV
Germline

Chr7:5992022

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

rs_1562651617

3 SubmittersRCV001019273 RCV003455106 RCV001860942

NM_000535.7(PMS2):c.65C>A (p.Ser22Ter)

SNV
Germline

Chr7:6005990

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_767028531

5 SubmittersRCV001025441 RCV003455132 RCV004998572 RCV001383035

NM_000535.7(PMS2):c.1A>C (p.Met1Leu)

SNV
Germline

Chr7:6009019

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_587779333

6 SubmittersRCV001013976 RCV002259376 RCV003455081 RCV001242115 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

Criteria Provided
Multiple Submitters
No Conflicts

rs_587779193

3 SubmittersRCV001019333 RCV001210828 RCV003455107

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

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

rs_1572746025

3 SubmittersRCV001021191 RCV002551836 RCV003455116

NM_000535.7(PMS2):c.1145-2A>G

SNV
Germline

Chr7:5987622

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

rs_1325835006

3 SubmittersRCV001017449 RCV003455098 RCV001873297

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

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

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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_267607866

4 SubmittersRCV001030631 RCV003758991 RCV002409352 RCV004555612

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 1
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1166747167

6 SubmittersRCV001062343 RCV001806007 RCV002268425 RCV003467816 RCV004000125

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

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
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_775377647

3 SubmittersRCV001035390 RCV003467701 RCV002391091

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
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1666901220

5 SubmittersRCV001042504 RCV002400248 RCV004570138 RCV003321787

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

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

rs_63750398

3 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

Criteria Provided
Conflicting Classifications

rs_373393954

6 SubmittersRCV001047234 RCV001183949 RCV003226427 RCV003467748 RCV004004786

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

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

rs_752887988

3 SubmittersRCV001039473 RCV002354992 RCV004004727

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

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

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

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

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

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

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
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1781502574

3 SubmittersRCV001047153 RCV002280584 RCV002429620

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

rs_1064793426

3 SubmittersRCV001064864 RCV003455284

NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)

SNV
Germline

Chr7:5986963

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_63750456

5 SubmittersRCV002411572 RCV001061254 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

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

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

Criteria Provided
Conflicting Classifications

rs_61755653

4 SubmittersRCV001121872 RCV004031840 RCV004576982

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

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

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
Hereditary nonpolyposis colon cancer
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1307026290

5 SubmittersRCV001054912 RCV002409456 RCV003994200 RCV003455250

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_147542208

6 SubmittersRCV001093683 RCV001784646 RCV002418578 RCV003160614 RCV003455442

NM_000249.4(MLH1):c.885-2A>C

SNV
Germline

Chr3:37020308

Likely pathogenic

Lynch syndrome 1

No Assertion Criteria Provided

rs_267607805

1 SubmittersRCV001093689

NM_000251.3(MSH2):c.2635-24A>G

SNV
Germline

Chr2:47482755

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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

rs_773193199

4 SubmittersRCV001140445 RCV001362434 RCV002445397 RCV003462638

NM_000249.4(MLH1):c.91G>T (p.Ala31Ser)

SNV
Germline

Chr3:36993638

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_749671520

6 SubmittersRCV001469803 RCV001149362 RCV003117786 RCV002375041 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

rs_1784804225

2 SubmittersRCV001164300 RCV002355129

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

rs_766196837

4 SubmittersRCV001178226 RCV001303509 RCV003462650

NM_000251.3(MSH2):c.263T>C (p.Phe88Ser)

SNV
Germline

Chr2:47408452

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1672553516

5 SubmittersRCV001180255 RCV001303579 RCV003478710 RCV004807352

NM_000251.3(MSH2):c.423G>A (p.Met141Ile)

SNV
Germline

Chr2:47410150

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

rs_1672660061

4 SubmittersRCV001192280 RCV004010591 RCV002560150

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
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_866818044

5 SubmittersRCV001177728 RCV001875856 RCV004006403 RCV003478706

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558478136

4 SubmittersRCV001186447 RCV002559937 RCV003449608

NM_000251.3(MSH2):c.1321A>T (p.Thr441Ser)

SNV
Germline

Chr2:47445592

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_587779086

5 SubmittersRCV001188997 RCV004010323 RCV001859134 RCV003462663

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

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

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

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

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

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

rs_1478102899

5 SubmittersRCV001187057 RCV001223021 RCV003469305 RCV004008659

NM_000179.3(MSH6):c.3132C>G (p.Tyr1044Ter)

SNV
Germline

Chr2:47801115

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1669552731

4 SubmittersRCV001190006 RCV001859140 RCV003449617

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

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

rs_535470039

4 SubmittersRCV001186635 RCV002559943 RCV004807409

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

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

rs_758250810

7 SubmittersRCV001192082 RCV001269755 RCV001859159 RCV003388604 RCV003449623

NM_000535.7(PMS2):c.354-14G>T

SNV
Germline

Chr7:6002650

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

rs_1785236527

3 SubmittersRCV004807445 RCV001191046 RCV003770153

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

rs_1785723689

3 SubmittersRCV001186032 RCV003449605

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

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

rs_587779279

4 SubmittersRCV001190323 RCV001382590 RCV003449622

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

rs_1784783734

5 SubmittersRCV001179571 RCV001380257 RCV001780095 RCV003449589

NM_000535.7(PMS2):c.354-15G>T

SNV
Germline

Chr7:6002651

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_1250216615

3 SubmittersRCV001186597 RCV002559940 RCV004008615

NM_000535.7(PMS2):c.538-2A>C

SNV
Germline

Chr7:5999277

Likely pathogenic

Hereditary cancer-predisposing syndrome
Mismatch repair cancer syndrome 4
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_758304323

2 SubmittersRCV001189613 RCV002497660

NM_000251.3(MSH2):c.1609A>T (p.Lys537Ter)

SNV
Germline

Chr2:47466756

Pathogenic

Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_980244810

3 SubmittersRCV001193244 RCV003449627 RCV002393445

NM_000251.3(MSH2):c.2066C>A (p.Ala689Asp)

SNV
Germline

Chr2:47476427

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

rs_1060502020

4 SubmittersRCV001193850 RCV003449628 RCV002418650 RCV001863062

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

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

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

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

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
Lynch syndrome 5
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553412720

4 SubmittersRCV001217699 RCV002379819 RCV003449686 RCV004570494

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

Criteria Provided
Conflicting Classifications

rs_1669344619

3 SubmittersRCV001223696 RCV002402694 RCV003449707

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

rs_1669748364

3 SubmittersRCV001223215 RCV001253751 RCV002322081

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

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

rs_753555602

3 SubmittersRCV001206853 RCV002429884 RCV004010654

NM_000251.3(MSH2):c.2593A>G (p.Ile865Val)

SNV
Germline

Chr2:47480830

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_1013401625

4 SubmittersRCV002258160 RCV001213246 RCV003462715

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

rs_1669881416

2 SubmittersRCV001203597 RCV004010629

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

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

Criteria Provided
Conflicting Classifications

rs_1389301978

4 SubmittersRCV001202557 RCV003293994 RCV004010621

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

rs_267607934

5 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
Condition: not provided
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_267607933

4 SubmittersRCV001219161 RCV002418752 RCV004998735 RCV003449695

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

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

rs_988423880

6 SubmittersRCV001219564 RCV002290643 RCV002348734 RCV004546618

NM_000251.3(MSH2):c.82G>A (p.Glu28Lys)

SNV
Germline

Chr2:47403273

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_63751246

3 SubmittersRCV004807477 RCV001230131 RCV002429983

NM_000251.3(MSH2):c.332C>T (p.Ala111Val)

SNV
Germline

Chr2:47408521

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1672561306

4 SubmittersRCV001229939 RCV001760227 RCV001355866 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

Criteria Provided
Conflicting Classifications

rs_764911657

3 SubmittersRCV001237221 RCV002447183 RCV004004870

NM_000251.3(MSH2):c.2042A>C (p.Gln681Pro)

SNV
Germline

Chr2:47476403

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_1667302018

3 SubmittersRCV001232539 RCV002418798 RCV003449727

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

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

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

rs_771925339

3 SubmittersRCV001242725 RCV004034728 RCV004803598

NM_000535.7(PMS2):c.573C>G (p.Tyr191Ter)

SNV
Germline

Chr7:5999240

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_761134229

2 SubmittersRCV001240259 RCV002499394

NM_000251.3(MSH2):c.1277-1G>T

SNV
Germline

Chr2:47445547

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_267607948

3 SubmittersRCV001235341 RCV003142200 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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1114167883

3 SubmittersRCV001241243 RCV001806078 RCV003449751

NM_000535.7(PMS2):c.988+1G>T

SNV
Germline

Chr7:5991972

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_757110564

5 SubmittersRCV001243900 RCV001524006 RCV004004899 RCV003449767

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

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

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

rs_1553414554

4 SubmittersRCV001249959 RCV002322167 RCV003594123 RCV003449807

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

rs_1666904987

3 SubmittersRCV001260342 RCV002393670 RCV003449819

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

rs_1783517960

2 SubmittersRCV001262163 RCV004807489

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

rs_730881769

4 SubmittersRCV001284507 RCV001384160 RCV002451640 RCV003449836

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

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

rs_917968387

2 SubmittersRCV001295935 RCV003449847

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

rs_1032873228

3 SubmittersRCV001299434 RCV002341591 RCV004004987

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

rs_750646335

2 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

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 nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1667243318

3 SubmittersRCV001310074 RCV003759043 RCV003294253

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

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

rs_933434691

3 SubmittersRCV001321787 RCV004005110 RCV004035040

NM_000251.3(MSH2):c.2549A>G (p.Glu850Gly)

SNV
Germline

Chr2:47480786

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1667497027

4 SubmittersRCV001553379 RCV001327722 RCV004808015 RCV002438757

NM_000251.3(MSH2):c.2791A>G (p.Lys931Glu)

SNV
Germline

Chr2:47482935

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1476533863

3 SubmittersRCV001324135 RCV004808010 RCV002438742

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

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

rs_1669872142

3 SubmittersRCV001325048 RCV002456451 RCV003449934

NM_000535.7(PMS2):c.2549T>G (p.Met850Arg)

SNV
Germline

Chr7:5973439

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

rs_1781486223

3 SubmittersRCV002431938 RCV001327730 RCV003449942

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

rs_376677710

4 SubmittersRCV001338269 RCV003169591 RCV004570806

NM_000251.3(MSH2):c.935T>C (p.Leu312Pro)

SNV
Germline

Chr2:47414411

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bile duct cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_2104180665

3 SubmittersRCV002377506 RCV001358116 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

rs_267607987

3 SubmittersRCV001355403 RCV002420773 RCV003449995

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

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

rs_2128672286

2 SubmittersRCV001357092 RCV003469593

NM_000179.3(MSH6):c.2118T>A (p.Phe706Leu)

SNV
Germline

Chr2:47800101

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2104389604

3 SubmittersRCV001370981 RCV004006826 RCV004037489

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

rs_63751604

3 SubmittersRCV001377641 RCV002420851 RCV003450044

NM_000251.3(MSH2):c.1511-2A>C

SNV
Germline

Chr2:47466656

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_267607962

3 SubmittersRCV001384780 RCV003450063 RCV002395870

NM_000251.3(MSH2):c.2445T>A (p.Tyr815Ter)

SNV
Germline

Chr2:47478506

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

rs_1667403360

4 SubmittersRCV002456607 RCV003451684 RCV001388596

NM_000179.3(MSH6):c.24C>A (p.Tyr8Ter)

SNV
Germline

Chr2:47783257

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_746306598

2 SubmittersRCV001387656 RCV003450077

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

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

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

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

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

rs_267608172

2 SubmittersRCV001387075 RCV003450073

NM_000535.7(PMS2):c.1557T>G (p.Tyr519Ter)

SNV
Germline

Chr7:5987208

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_6972869

4 SubmittersRCV001387397 RCV004808038 RCV002404903 RCV003450075

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

rs_1583387894

2 SubmittersRCV001386402 RCV004017829

NM_000249.4(MLH1):c.2104-6T>C

SNV
Germline

Chr3:37050480

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_2148521621

2 SubmittersRCV001454810 RCV004007053

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

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
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_758445380

3 SubmittersRCV001525821 RCV001597290 RCV004008875

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

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

rs_1347758423

3 SubmittersRCV001524761 RCV004808082

NM_000535.7(PMS2):c.706-2A>G

SNV
Germline

Chr7:5997425

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_745487791

5 SubmittersRCV001527064 RCV001873720 RCV002368555 RCV001780396 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

Criteria Provided
Conflicting Classifications

rs_2104185998

5 SubmittersRCV001544966 RCV001859363 RCV001806235 RCV004008923

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1667240403

4 SubmittersRCV001569176 RCV002414271 RCV003451818 RCV003594142

NM_000179.3(MSH6):c.2938G>T (p.Glu980Ter)

SNV
Germline

Chr2:47800921

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colon cancer
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_2104431856

2 SubmittersRCV001732814 RCV003451869

NM_000251.3(MSH2):c.2275G>A (p.Gly759Arg)

SNV
Germline

Chr2:47478336

Conflicting classifications of pathogenicity

Condition: not provided
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_63749854

2 SubmittersRCV001763145 RCV004040161

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

rs_1425816147

5 SubmittersRCV001768213 RCV002405310 RCV002540683 RCV003154042 RCV004009037

NM_000179.3(MSH6):c.1453C>T (p.Gln485Ter)

SNV
Germline

Chr2:47799436

Likely pathogenic

Lynch syndrome

Criteria Provided
Single Submitter

rs_1114167803

1 SubmittersRCV001775048

NM_000179.3(MSH6):c.4001+1G>A

SNV
Germline

Chr2:47806652

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553414236

4 SubmittersRCV001779491 RCV002034538 RCV003451926 RCV004009051

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

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
Single Submitter

rs_2104420229

2 SubmittersRCV001789723 RCV002280190

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

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

rs_765201464

3 SubmittersRCV001804483 RCV001869513 RCV004009091

NM_000535.7(PMS2):c.163+1G>T

SNV
Germline

Chr7:6005891

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1064795705

3 SubmittersRCV001805683 RCV002541442 RCV003451950

NM_000251.3(MSH2):c.149C>T (p.Ala50Val)

SNV
Germline

Chr2:47403340

Conflicting classifications of pathogenicity

Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_876658582

4 SubmittersRCV001823604 RCV001869818 RCV002388685 RCV004009163

NM_000251.3(MSH2):c.1319T>G (p.Leu440Arg)

SNV
Germline

Chr2:47445590

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_587779084

3 SubmittersRCV002028795 RCV003453952 RCV003170566

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

rs_779064342

2 SubmittersRCV001999638 RCV003453954

NM_000179.3(MSH6):c.1237T>C (p.Trp413Arg)

SNV
Germline

Chr2:47799220

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

rs_2104330278

2 SubmittersRCV002012824 RCV003453943

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

rs_757957751

3 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

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 cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_878853724

4 SubmittersRCV001938491 RCV002441040 RCV002509719 RCV003452162

NM_000251.3(MSH2):c.2383C>A (p.Pro795Thr)

SNV
Germline

Chr2:47478444

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2104406872

3 SubmittersRCV001947842 RCV004808157 RCV002458796

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

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

rs_757110564

3 SubmittersRCV002013192 RCV002386875 RCV003453948

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

rs_1669748364

2 SubmittersRCV001967444 RCV003452188

NM_000251.3(MSH2):c.182A>T (p.Gln61Leu)

SNV
Germline

Chr2:47403373

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_587779113

5 SubmittersRCV001951926 RCV002258326 RCV004808160

NM_000251.3(MSH2):c.114C>A (p.Asp38Glu)

SNV
Germline

Chr2:47403305

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

rs_587779074

2 SubmittersRCV002022770 RCV003316859

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_587782336

5 SubmittersRCV001958970 RCV002467458 RCV002423147

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

rs_1667495338

3 SubmittersRCV001971429 RCV003493902 RCV004556846

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553332772

4 SubmittersRCV001974193 RCV002243498 RCV004945854

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

rs_764835191

4 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

rs_2104405386

3 SubmittersRCV002000129 RCV002442943 RCV003453852

NM_000179.3(MSH6):c.2337T>A (p.Cys779Ter)

SNV
Germline

Chr2:47800320

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553413707

3 SubmittersRCV001941846 RCV003365601 RCV003453861

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

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

rs_1272484865

3 SubmittersRCV001941526 RCV003170170 RCV003453857

NM_000535.7(PMS2):c.1575G>T (p.Gly525=)

SNV
Germline

Chr7:5987190

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1783045939

3 SubmittersRCV002041508 RCV004009174 RCV002397769

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553408469

2 SubmittersRCV001991495 RCV003453944

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

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2104422674

2 SubmittersRCV001972767 RCV003453880

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554309086

2 SubmittersRCV001950104 RCV003452184

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

rs_587780054

3 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

rs_1553368707

3 SubmittersRCV002047131 RCV002422898 RCV003451983

NM_000535.7(PMS2):c.4G>T (p.Glu2Ter)

SNV
Germline

Chr7:6009016

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554309080

3 SubmittersRCV001958693 RCV003453883 RCV002334976

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

Criteria Provided
Conflicting Classifications

rs_1244752544

4 SubmittersRCV001906739 RCV002370498 RCV004010840 RCV004598160

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

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

rs_370237509

4 SubmittersRCV001892435 RCV002422964 RCV004808143

NM_000179.3(MSH6):c.824G>C (p.Ser275Thr)

SNV
Germline

Chr2:47798807

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_774586054

3 SubmittersRCV004011154 RCV002027023 RCV002425429

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

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
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

rs_1559595840

3 SubmittersRCV002168468 RCV004005416 RCV003464405

NM_003482.4(KMT2D):c.4427C>G (p.Ser1476Cys)

SNV
Germline

Chr12:49046416

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

rs_1227169455

2 SubmittersRCV002250084 RCV004555897

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

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

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

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

rs_1553350883

3 SubmittersRCV002257137 RCV004005557

NM_000051.4(ATM):c.201T>G (p.Tyr67Ter)

SNV
Germline

Chr11:108229193

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

rs_1555055083

1 SubmittersRCV002267183

NM_000179.3(MSH6):c.1813A>G (p.Thr605Ala)

SNV
Germline

Chr2:47799796

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

rs_780167298

3 SubmittersRCV002269192 RCV003759091 RCV004808241

NM_000179.3(MSH6):c.2909G>A (p.Trp970Ter)

SNV
Germline

Chr2:47800892

Pathogenic/Likely pathogenic

Colorectal cancer
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002290230 RCV003454080

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

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

2 SubmittersRCV002325929 RCV003454099

NM_000179.3(MSH6):c.1129A>T (p.Lys377Ter)

SNV
Germline

Chr2:47799112

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002325978 RCV003316863

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

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

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

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

3 SubmittersRCV002443338 RCV003454102 RCV003759103

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002452437 RCV003234799 RCV004572257

NM_000179.3(MSH6):c.3646+2T>G

SNV
Germline

Chr2:47805709

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002346632 RCV003454129

NM_000179.3(MSH6):c.3801+1G>A

SNV
Germline

Chr2:47806359

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002363966 RCV003454137

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

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

2 SubmittersRCV002332183 RCV004005657

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

2 SubmittersRCV002460281 RCV003454122

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

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

2 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

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

2 SubmittersRCV002330372 RCV003454155

NM_000535.7(PMS2):c.538G>T (p.Glu180Ter)

SNV
Germline

Chr7:5999275

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002347185 RCV003464469

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

2 SubmittersRCV002335808 RCV003454161

NM_000535.7(PMS2):c.556C>T (p.Gln186Ter)

SNV
Germline

Chr7:5999257

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002352042 RCV004591917

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002344708 RCV003454169 RCV004017926

NM_000179.3(MSH6):c.585T>G (p.Val195=)

SNV
Germline

Chr2:47796021

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002353406 RCV004005707

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

2 SubmittersRCV002353594 RCV004808282

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002416796 RCV003103457 RCV003454203

NM_000251.3(MSH2):c.793-2A>T

SNV
Germline

Chr2:47414267

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002416800 RCV003454204

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

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

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

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

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

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

2 SubmittersRCV002365050 RCV004793795

NM_000535.7(PMS2):c.706-1G>T

SNV
Germline

Chr7:5997424

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV002365051 RCV004785625 RCV003491098 RCV003594236 RCV004017928

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

3 SubmittersRCV002374237 RCV003454228 RCV003594249

NM_000251.3(MSH2):c.952G>T (p.Glu318Ter)

SNV
Germline

Chr2:47416305

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002467459 RCV002374249

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

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

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

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

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

3 SubmittersRCV002412438 RCV003454210 RCV003594241

NM_000251.3(MSH2):c.1276G>T (p.Gly426Ter)

SNV
Germline

Chr2:47429941

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002371717 RCV003100152 RCV003454226

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

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

2 SubmittersRCV002387094 RCV004007293

NM_000251.3(MSH2):c.1357A>G (p.Met453Val)

SNV
Germline

Chr2:47445628

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002383379 RCV003759669 RCV004572408

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

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002392192 RCV003454253 RCV003759680

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

2 SubmittersRCV002392193 RCV003454254

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

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002405905 RCV003493947 RCV004007348

NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)

SNV
Germline

Chr7:5987090

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Lynch syndrome

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002414507 RCV003454270 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

2 SubmittersRCV002387394 RCV004007294

NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)

SNV
Germline

Chr7:5989951

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002382880 RCV003454235

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
Lynch syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002387717 RCV003095000 RCV004572406 RCV004779324

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

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002410175 RCV003454289 RCV003759698

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

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

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

4 SubmittersRCV002396935 RCV002467460 RCV004017932

NM_000535.7(PMS2):c.1552G>T (p.Glu518Ter)

SNV
Germline

Chr7:5987213

Pathogenic/Likely pathogenic

Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003464523 RCV002403400

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002403450 RCV003096927 RCV004808310

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

2 SubmittersRCV002407804 RCV003454286

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

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

3 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

2 SubmittersRCV002398771 RCV003454260

NM_000179.3(MSH6):c.1777C>T (p.Gln593Ter)

SNV
Germline

Chr2:47799760

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002404010 RCV003454284

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

3 SubmittersRCV002413042 RCV003454291 RCV004572444

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

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

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

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002422071 RCV003454322

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

4 SubmittersRCV002417908 RCV003121033 RCV004007401 RCV004999752

NM_000535.7(PMS2):c.2174+1G>T

SNV
Germline

Chr7:5982823

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002432777 RCV002481086 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

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

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

2 SubmittersRCV002446153 RCV003455460

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

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

2 SubmittersRCV002459642 RCV003455468

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

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

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

3 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

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

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

2 SubmittersRCV002428420 RCV003454336

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

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

2 SubmittersRCV002417256 RCV003454314

NM_000535.7(PMS2):c.2007-1G>C

SNV
Germline

Chr7:5982992

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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

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

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

3 SubmittersRCV002417472 RCV003454326

NM_000251.3(MSH2):c.211+2T>G

SNV
Germline

Chr2:47403404

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002417473 RCV003454327

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

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

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

2 SubmittersRCV002430718 RCV003455473

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

2 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

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

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

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

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

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

2 SubmittersRCV002455832 RCV003455483

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

3 SubmittersRCV002441865 RCV003455505

NM_000179.3(MSH6):c.290G>A (p.Trp97Ter)

SNV
Germline

Chr2:47790956

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002439818 RCV003455501

NM_000179.3(MSH6):c.3040A>T (p.Lys1014Ter)

SNV
Germline

Chr2:47801023

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002444006 RCV003455514

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

2 SubmittersRCV002444102 RCV004017937

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

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

1 SubmittersRCV002463850 RCV002508981

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

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

3 SubmittersRCV003112120 RCV003330111 RCV003455763

NM_000251.3(MSH2):c.1661+2T>G

SNV
Germline

Chr2:47466810

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002618628 RCV003455554

NM_000251.3(MSH2):c.2599G>T (p.Glu867Ter)

SNV
Germline

Chr2:47480836

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002635267 RCV003455555

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

2 SubmittersRCV002796574 RCV003455577

NM_000179.3(MSH6):c.628-2A>C

SNV
Germline

Chr2:47798609

Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

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

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002872239 RCV003465856

NM_000179.3(MSH6):c.3752C>A (p.Ser1251Ter)

SNV
Germline

Chr2:47806309

Pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002952788 RCV003455614

NM_000179.3(MSH6):c.3802-2A>G

SNV
Germline

Chr2:47806450

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003006245 RCV003455659 RCV003585329

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

2 SubmittersRCV003043350 RCV004808403

NM_000179.3(MSH6):c.3861T>A (p.Tyr1287Ter)

SNV
Unknown

Chr2:47806511

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV003154670 RCV004577035

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

3 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

2 SubmittersRCV003182930 RCV003455778

NM_000251.3(MSH2):c.1208A>G (p.Asp403Gly)

SNV
Germline

Chr2:47429873

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

4 SubmittersRCV003182953 RCV003759798 RCV003459800

NM_000179.3(MSH6):c.3277G>T (p.Gly1093Ter)

SNV
Germline

Chr2:47803524

Pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003182626 RCV003455776

NM_000179.3(MSH6):c.2308G>T (p.Gly770Cys)

SNV
Germline

Chr2:47800291

Likely pathogenic

Lynch syndrome 1

No Assertion Criteria Provided

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

2 SubmittersRCV003278512 RCV003455790

NM_000535.7(PMS2):c.538-2A>T

SNV
Unknown

Chr7:5999277

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003316952

NM_000179.3(MSH6):c.457+1G>A

SNV
Germline

Chr2:47791124

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

2 SubmittersRCV003455799

NM_000251.3(MSH2):c.2101G>T (p.Glu701Ter)

SNV
Germline

Chr2:47476462

Pathogenic

Lynch syndrome

Criteria Provided
Single Submitter

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003325653 RCV004009739 RCV004943016

NM_000179.3(MSH6):c.2788A>T (p.Lys930Ter)

SNV
Unknown

Chr2:47800771

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003337110

NM_000535.7(PMS2):c.989-1G>C

SNV
Unknown

Chr7:5989956

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003335669

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

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

1 SubmittersRCV003335752

NM_000179.3(MSH6):c.1407T>G (p.Tyr469Ter)

SNV
Unknown

Chr2:47799390

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003335762

NM_000179.3(MSH6):c.3446T>A (p.Leu1149Ter)

SNV
Germline

Chr2:47804917

Pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003455807 RCV003360822

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

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

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
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003350732 RCV003459849

NM_000179.3(MSH6):c.3577G>T (p.Glu1193Ter)

SNV
Germline

Chr2:47805638

Pathogenic/Likely pathogenic

Lynch syndrome 5
Endometrial carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003450237 RCV003459867 RCV004364745

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

2 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

2 SubmittersRCV003452423

NM_000179.3(MSH6):c.3826G>T (p.Glu1276Ter)

SNV
Germline

Chr2:47806476

Pathogenic/Likely pathogenic

Endometrial carcinoma
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003466082 RCV003450284 RCV003759854

NM_000179.3(MSH6):c.1627A>T (p.Lys543Ter)

SNV
Germline

Chr2:47799610

Pathogenic/Likely pathogenic

Lynch syndrome 5
Endometrial carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003450428 RCV003459872 RCV004654224

NM_000251.3(MSH2):c.1510+1G>C

SNV
Unknown

Chr2:47463155

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455914

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

2 SubmittersRCV003455918 RCV004364737

NM_000251.3(MSH2):c.2459-1G>T

SNV
Unknown

Chr2:47480695

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455919

NM_000251.3(MSH2):c.366+1G>C

SNV
Unknown

Chr2:47408556

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455921

NM_000251.3(MSH2):c.1811C>A (p.Ala604Asp)

SNV
Unknown

Chr2:47475076

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455922

NM_000251.3(MSH2):c.1714G>T (p.Glu572Ter)

SNV
Unknown

Chr2:47471017

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455926

NM_000251.3(MSH2):c.2254A>T (p.Arg752Ter)

SNV
Unknown

Chr2:47478315

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455935

NM_000251.3(MSH2):c.778G>T (p.Glu260Ter)

SNV
Unknown

Chr2:47412546

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455942

NM_000251.3(MSH2):c.679A>T (p.Arg227Ter)

SNV
Unknown

Chr2:47412447

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV003455958 RCV003594673

NM_000251.3(MSH2):c.1076+2T>A

SNV
Unknown

Chr2:47416431

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455961

NM_000251.3(MSH2):c.1076+2T>G

SNV
Unknown

Chr2:47416431

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455973

NM_000251.3(MSH2):c.2047G>C (p.Gly683Arg)

SNV
Unknown

Chr2:47476408

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455975

NM_000251.3(MSH2):c.803C>G (p.Ser268Ter)

SNV
Unknown

Chr2:47414279

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003455981

NM_000251.3(MSH2):c.1115T>A (p.Leu372Ter)

SNV
Unknown

Chr2:47429780

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450102

NM_000251.3(MSH2):c.32T>A (p.Leu11Ter)

SNV
Unknown

Chr2:47403223

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450107

NM_000251.3(MSH2):c.295A>T (p.Arg99Ter)

SNV
Unknown

Chr2:47408484

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450137

NM_000251.3(MSH2):c.792+1G>T

SNV
Unknown

Chr2:47412561

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450149

NM_000251.3(MSH2):c.2257G>T (p.Gly753Ter)

SNV
Unknown

Chr2:47478318

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450153

NM_000251.3(MSH2):c.2271C>A (p.Tyr757Ter)

SNV
Unknown

Chr2:47478332

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450156

NM_000251.3(MSH2):c.773T>A (p.Leu258Ter)

SNV
Unknown

Chr2:47412541

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450166

NM_000251.3(MSH2):c.1676T>G (p.Leu559Ter)

SNV
Unknown

Chr2:47470979

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450175

NM_000251.3(MSH2):c.1127T>G (p.Leu376Ter)

SNV
Germline

Chr2:47429792

Pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003450180 RCV004364739

NM_000251.3(MSH2):c.839T>G (p.Leu280Ter)

SNV
Unknown

Chr2:47414315

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450185

NM_000251.3(MSH2):c.1018A>T (p.Arg340Ter)

SNV
Unknown

Chr2:47416371

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450191

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

SNV
Unknown

Chr2:47803686

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450214

NM_000179.3(MSH6):c.261-2A>T

SNV
Unknown

Chr2:47790925

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450217

NM_000179.3(MSH6):c.3408T>G (p.Asn1136Lys)

SNV
Unknown

Chr2:47803655

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450218

NM_000179.3(MSH6):c.458-2A>C

SNV
Unknown

Chr2:47795892

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450220

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

SNV
Unknown

Chr2:47791125

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450226

NM_000179.3(MSH6):c.2773G>T (p.Gly925Ter)

SNV
Germline

Chr2:47800756

Pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003450231 RCV004943035 RCV004999938

NM_000179.3(MSH6):c.472G>T (p.Glu158Ter)

SNV
Unknown

Chr2:47795908

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450239

NM_000179.3(MSH6):c.2326C>T (p.Gln776Ter)

SNV
Unknown

Chr2:47800309

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450252

NM_000179.3(MSH6):c.3894T>A (p.Tyr1298Ter)

SNV
Unknown

Chr2:47806544

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV003450271 RCV004999939

NM_000179.3(MSH6):c.194C>G (p.Ser65Ter)

SNV
Unknown

Chr2:47783427

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450274

NM_000179.3(MSH6):c.3433A>T (p.Arg1145Ter)

SNV
Unknown

Chr2:47803680

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450276

NM_000179.3(MSH6):c.841G>T (p.Gly281Ter)

SNV
Unknown

Chr2:47798824

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450286

NM_000179.3(MSH6):c.443T>G (p.Leu148Ter)

SNV
Unknown

Chr2:47791109

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450287

NM_000179.3(MSH6):c.2440A>T (p.Lys814Ter)

SNV
Unknown

Chr2:47800423

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450297

NM_000179.3(MSH6):c.1677C>A (p.Cys559Ter)

SNV
Unknown

Chr2:47799660

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450298

NM_000179.3(MSH6):c.676G>T (p.Glu226Ter)

SNV
Unknown

Chr2:47798659

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450301

NM_000179.3(MSH6):c.373A>T (p.Lys125Ter)

SNV
Unknown

Chr2:47791039

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450304

NM_000179.3(MSH6):c.1609A>T (p.Lys537Ter)

SNV
Unknown

Chr2:47799592

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450308

NM_000179.3(MSH6):c.2767A>T (p.Lys923Ter)

SNV
Germline

Chr2:47800750

Pathogenic

Lynch syndrome 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003450324 RCV004364748

NM_000179.3(MSH6):c.1510A>T (p.Lys504Ter)

SNV
Unknown

Chr2:47799493

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450341

NM_000179.3(MSH6):c.3731T>A (p.Leu1244Ter)

SNV
Unknown

Chr2:47806288

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450344

NM_000179.3(MSH6):c.685G>T (p.Glu229Ter)

SNV
Unknown

Chr2:47798668

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450362

NM_000179.3(MSH6):c.2608A>T (p.Lys870Ter)

SNV
Unknown

Chr2:47800591

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450388

NM_000179.3(MSH6):c.1597G>T (p.Glu533Ter)

SNV
Unknown

Chr2:47799580

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450425

NM_000179.3(MSH6):c.2036T>A (p.Leu679Ter)

SNV
Unknown

Chr2:47800019

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450427

NM_000179.3(MSH6):c.2074A>T (p.Lys692Ter)

SNV
Unknown

Chr2:47800057

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450432

NM_000179.3(MSH6):c.3554C>A (p.Ser1185Ter)

SNV
Unknown

Chr2:47805025

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450433

NM_000535.7(PMS2):c.1694T>A (p.Leu565Ter)

SNV
Unknown

Chr7:5987071

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003450507

NM_000179.3(MSH6):c.4001G>T (p.Arg1334Leu)

SNV
Unknown

Chr2:47806651

Likely pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV003450515

NM_000535.7(PMS2):c.903G>C (p.Lys301Asn)

SNV
Unknown

Chr7:5995534

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003450525

NM_000179.3(MSH6):c.1141G>T (p.Glu381Ter)

SNV
Unknown

Chr2:47799124

Pathogenic

Lynch syndrome 5

Criteria Provided
Single Submitter

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

2 SubmittersRCV003452227 RCV003759863

NM_000535.7(PMS2):c.221G>A (p.Gly74Glu)

SNV
Germline

Chr7:6004001

Conflicting classifications of pathogenicity

Lynch syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003452384 RCV004596585

NM_000535.7(PMS2):c.2039G>A (p.Gly680Asp)

SNV
Unknown

Chr7:5982959

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452385

NM_000535.7(PMS2):c.2528G>C (p.Cys843Ser)

SNV
Unknown

Chr7:5973460

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452388

NM_000535.7(PMS2):c.164-1G>T

SNV
Unknown

Chr7:6004059

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452389

NM_000535.7(PMS2):c.2501T>C (p.Met834Thr)

SNV
Unknown

Chr7:5973487

Likely pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

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

3 SubmittersRCV003452392 RCV003759864 RCV004654228

NM_000535.7(PMS2):c.804-11A>G

SNV
Germline

Chr7:5995644

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003452393 RCV003585403

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

2 SubmittersRCV003452400 RCV003594681

NM_000535.7(PMS2):c.1217T>G (p.Leu406Ter)

SNV
Germline

Chr7:5987548

Pathogenic

Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003452406 RCV003585404

NM_000535.7(PMS2):c.2335G>T (p.Gly779Ter)

SNV
Unknown

Chr7:5977698

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452409

NM_000535.7(PMS2):c.909C>A (p.Cys303Ter)

SNV
Unknown

Chr7:5992052

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

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

2 SubmittersRCV003452419 RCV003778513

NM_000535.7(PMS2):c.1545C>A (p.Cys515Ter)

SNV
Unknown

Chr7:5987220

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452430

NM_000535.7(PMS2):c.1417G>T (p.Glu473Ter)

SNV
Unknown

Chr7:5987348

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452432

NM_000535.7(PMS2):c.447C>G (p.Tyr149Ter)

SNV
Unknown

Chr7:6002543

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452433

NM_000535.7(PMS2):c.757G>T (p.Glu253Ter)

SNV
Unknown

Chr7:5997372

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452441

NM_000535.7(PMS2):c.20C>A (p.Ser7Ter)

SNV
Unknown

Chr7:6009000

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452444

NM_000535.7(PMS2):c.298C>T (p.Gln100Ter)

SNV
Unknown

Chr7:6003745

Pathogenic

Lynch syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003452453

NM_000251.3(MSH2):c.989T>G (p.Leu330Arg)

SNV
Unknown

Chr2:47416342

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003454364

NM_000251.3(MSH2):c.2087C>G (p.Pro696Arg)

SNV
Unknown

Chr2:47476448

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003454366

NM_000251.3(MSH2):c.2194A>C (p.Thr732Pro)

SNV
Unknown

Chr2:47476555

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003454367

NM_000251.3(MSH2):c.2246A>G (p.Glu749Gly)

SNV
Unknown

Chr2:47478307

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003454368

NM_000251.3(MSH2):c.2005+2T>A

SNV
Unknown

Chr2:47475272

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003454371

NM_000251.3(MSH2):c.809T>G (p.Leu270Arg)

SNV
Unknown

Chr2:47414285

Likely pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003454372

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

2 SubmittersRCV003595058 RCV004368999

NM_000249.4(MLH1):c.2104-13A>T

SNV
Germline

Chr3:37050473

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003759966 RCV004011650

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

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

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

2 SubmittersRCV004014528 RCV004636885

NM_000179.3(MSH6):c.3646G>T (p.Gly1216Ter)

SNV
Germline

Chr2:47805707

Likely pathogenic

Lynch syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004015081

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

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

2 SubmittersRCV004017043 RCV004943294

NM_000249.4(MLH1):c.885-1G>T

SNV
Germline

Chr3:37020309

Likely pathogenic

Lynch syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004018076

NM_000535.7(PMS2):c.338C>A (p.Ser113Ter)

SNV
Germline

Chr7:6003705

Pathogenic

Lynch syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004018331

NM_000535.7(PMS2):c.164-2A>C

SNV
Germline

Chr7:6004060

Likely pathogenic

Lynch syndrome 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004440117 RCV004943302

NM_000179.3(MSH6):c.1531A>G (p.Arg511Gly)

SNV
Germline

Chr2:47799514

Conflicting classifications of pathogenicity

Endometrial carcinoma
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004576256 RCV004796871

NM_000251.3(MSH2):c.46G>T (p.Glu16Ter)

SNV
Unknown

Chr2:47403237

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004589204

NM_000179.3(MSH6):c.261-2A>C

SNV
Germline

Chr2:47790925

Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004654498 RCV004787149

NM_000251.3(MSH2):c.589A>T (p.Lys197Ter)

SNV
Unknown

Chr2:47410316

Pathogenic

Lynch syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004788961