Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000038.6(APC):c.1500T>G (p.Tyr500Ter)	SNV Germline	Chr5:112827199	Pathogenic	Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA005243	rs_387906230	5 SubmittersRCV000000832 RCV001284231 RCV002390083
NM_000038.6(APC):c.904C>T (p.Arg302Ter)	SNV Germline/somatic	Chr5:112815564	Pathogenic/Likely pathogenic	Familial adenomatous polyposis 1 Gardner syndrome Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, susceptibility to Familial multiple polyposis syndrome Neoplasm Classic or attenuated familial adenomatous polyposis	Criteria Provided Multiple Submitters No Conflicts	CA015644	rs_137854568	18 SubmittersRCV000000834 RCV000000835 RCV000164370 RCV000077996 RCV000210154 RCV000499742 RCV005229760 RCV003996069
NM_000038.6(APC):c.839C>G (p.Ser280Ter)	SNV Germline	Chr5:112815499	Pathogenic	Gardner syndrome Familial multiple polyposis syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA015451	rs_137854569	3 SubmittersRCV000000836 RCV000503268 RCV004562179
NM_000038.6(APC):c.2138C>G (p.Ser713Ter)	SNV Germline	Chr5:112837732	Pathogenic	Gardner syndrome Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA007219	rs_137854570	4 SubmittersRCV000000837 RCV000491636 RCV004562180
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter)	SNV Germline/somatic	Chr5:112839606	Pathogenic	Carcinoma of colon Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA008865	rs_121913327	4 SubmittersRCV000000838 RCV000168134
NM_000038.6(APC):c.3199C>T (p.Gln1067Ter)	SNV Germline/somatic	Chr5:112838793	Pathogenic	Gastric cancer Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA008153	rs_137854571	4 SubmittersRCV000000840 RCV001019125 RCV004562181
NM_000038.6(APC):c.1621C>T (p.Gln541Ter)	SNV Germline	Chr5:112828001	Pathogenic	Brain tumor-polyposis syndrome 2 Familial adenomatous polyposis 1 Carcinoma of colon Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA005374	rs_137854572	7 SubmittersRCV000000844 RCV000000843 RCV000503851 RCV000657602 RCV000490845
NM_000038.6(APC):c.1660C>T (p.Arg554Ter)	SNV Germline/somatic	Chr5:112828889	Pathogenic	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to Familial multiple polyposis syndrome Hepatocellular carcinoma Neoplasm of stomach Familial adenomatous polyposis 1 Carcinoma of colon Desmoid disease, hereditary Condition: not provided Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA005424	rs_137854573	13 SubmittersRCV000000845 RCV000129303 RCV000210172 RCV000844608 RCV000763541 RCV000482405 RCV003162203
NM_000038.6(APC):c.1690C>T (p.Arg564Ter)	SNV Germline/somatic	Chr5:112828919	Pathogenic	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Familial multiple polyposis syndrome Neoplasm Classic or attenuated familial adenomatous polyposis	Criteria Provided Multiple Submitters No Conflicts	CA005451	rs_137854574	18 SubmittersRCV000000846 RCV000493386 RCV000524040 RCV001195432 RCV005229761 RCV003996071
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)	SNV Germline	Chr5:112838399	Pathogenic	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, susceptibility to Desmoid disease, hereditary Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach Carcinoma of colon Familial multiple polyposis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007805	rs_137854575	19 SubmittersRCV000000848 RCV000129305 RCV000202012 RCV000210151 RCV000763542 RCV000844610
NM_000038.6(APC):c.470G>A (p.Trp157Ter)	SNV Germline	Chr5:112775676	Pathogenic	Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA009701	rs_137854576	3 SubmittersRCV000000852
NM_000038.6(APC):c.643C>T (p.Gln215Ter)	SNV Germline	Chr5:112780901	Pathogenic	Familial adenomatous polyposis 1 Brain tumor-polyposis syndrome 2 Condition: not provided not specified Hereditary cancer-predisposing syndrome 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA011177	rs_137854577	11 SubmittersRCV000000853 RCV000000854 RCV000202265 RCV000507194 RCV000491571 RCV002490286
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	SNV Germline	Chr5:112839514	Conflicting classifications of pathogenicity; association; risk factor	Breast cancer, susceptibility to Familial adenomatous polyposis 1 Condition: not provided not specified Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to Familial multiple polyposis syndrome Carcinoma of colon Colorectal cancer Breast carcinoma APC-Associated Polyposis Disorders Familial colorectal cancer Diffuse midline glioma, H3 K27-altered	Criteria Provided Conflicting Classifications	CA008761	rs_1801155	52 SubmittersRCV000000864 RCV000000865 RCV000020088 RCV000034388 RCV000120049 RCV000115087 RCV000210085 RCV000238802 RCV000722046 RCV001195214 RCV001554302 RCV001535784 RCV001824556 RCV004776267
NM_000038.6(APC):c.1495C>T (p.Arg499Ter)	SNV Germline/somatic	Chr5:112827194	Pathogenic	Gardner syndrome Familial adenomatous polyposis 1 Familial multiple polyposis syndrome Hereditary cancer-predisposing syndrome Condition: not provided Carcinoma of colon APC-Associated Polyposis Disorders	Criteria Provided Multiple Submitters No Conflicts	CA005230	rs_137854580	16 SubmittersRCV000000867 RCV000204796 RCV000499412 RCV000491830 RCV000521676 RCV001353679 RCV003483421
NM_000038.6(APC):c.1458T>G (p.Tyr486Ter)	SNV Germline	Chr5:112827157	Pathogenic	Familial adenomatous polyposis 1	Criteria Provided Single Submitter	CA16024500	rs_2229992	2 SubmittersRCV000000868
NM_000038.6(APC):c.2093T>A (p.Leu698Ter)	SNV Germline	Chr5:112837687	Pathogenic	Gardner syndrome Familial adenomatous polyposis 1	Criteria Provided Single Submitter	CA007187	rs_137854582	2 SubmittersRCV000000875 RCV001310095
NM_000038.6(APC):c.423-1G>A	SNV Germline	Chr5:112775628	Pathogenic	Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA009189	rs_397514031	8 SubmittersRCV000000878 RCV000502154 RCV000491238
NM_000038.6(APC):c.622C>T (p.Gln208Ter)	SNV Germline	Chr5:112780880	Pathogenic	Gardner syndrome Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA011031	rs_137854583	4 SubmittersRCV000000882 RCV000491262 RCV003335009
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	SNV Germline	Chr1:45332803	Pathogenic/Likely pathogenic	Endometrial carcinoma Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Carcinoma of colon Gastric cancer Familial adenomatous polyposis 2 Gastric cancer MUTYH-related disorder Inherited polyposis and early onset colorectal cancer - germline testing	Criteria Provided Multiple Submitters No Conflicts	CA011761	rs_34612342	62 SubmittersRCV000005613 RCV000005612 RCV000115766 RCV000079502 RCV000121607 RCV000144631 RCV001554314 RCV002476933 RCV004528083 RCV005055057
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	SNV Germline	Chr1:45331556	Pathogenic/Likely pathogenic	Endometrial cancer Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Carcinoma of colon Familial adenomatous polyposis 2 Neoplasm of stomach Small intestine carcinoid Familial adenomatous polyposis 2 Neoplasm of stomach Pilomatrixoma Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas Ovarian carcinoma Colon cancer Breast carcinoma Familial colorectal cancer Diffuse midline glioma, H3 K27-altered Inherited polyposis and early onset colorectal cancer - germline testing MUTYH-related disorder Familial adenomatous polyposis 2 Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA011561	rs_36053993	73 SubmittersRCV000005615 RCV000005614 RCV000115748 RCV000079501 RCV000121598 RCV000144637 RCV000477907 RCV000493920 RCV000515320 RCV000501239 RCV001262769 RCV001580144 RCV001574076 RCV002051775 RCV004785246 RCV004808548 RCV004528084 RCV005016243
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)	SNV Germline	Chr1:45333449	Pathogenic/Likely pathogenic	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial colorectal cancer Carcinoma of colon Familial adenomatous polyposis 2 Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA013334	rs_121908380	18 SubmittersRCV000005617 RCV000163049 RCV000486820 RCV000661934 RCV001353649 RCV002496270
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)	SNV Germline	Chr1:45331220	Pathogenic	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Condition: not provided Carcinoma of colon Familial adenomatous polyposis 2 Gastric cancer MUTYH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA011650	rs_121908381	21 SubmittersRCV000005618 RCV000222872 RCV000235388 RCV001353602 RCV002496271 RCV003335015
NM_000038.6(APC):c.2438A>G (p.Asn813Ser)	SNV Germline	Chr5:112838032	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 not specified Desmoid disease, hereditary Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA007470	rs_201522866	12 SubmittersRCV000162586 RCV000034381 RCV004566795 RCV001268977 RCV005357247
NM_000038.6(APC):c.2677G>A (p.Glu893Lys)	SNV Germline	Chr5:112838271	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA007732	rs_199740875	10 SubmittersRCV000034383 RCV000164189 RCV000409913 RCV001174835 RCV003996151
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)	SNV Germline	Chr5:112839073	Conflicting classifications of pathogenicity	Condition: not provided Colorectal adenoma Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA008452	rs_201004111	19 SubmittersRCV000034385 RCV000148371 RCV000130655 RCV000204291 RCV000235094 RCV003996153 RCV003407396
NM_000038.6(APC):c.379A>G (p.Ser127Gly)	SNV Germline	Chr5:112767347	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA008675	rs_200089324	12 SubmittersRCV000034386 RCV000167102 RCV000410052 RCV003155048 RCV003996154
NM_000038.6(APC):c.388A>G (p.Ser130Gly)	SNV Germline	Chr5:112767356	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Familial multiple polyposis syndrome APC-Associated Polyposis Disorders APC-related disorder	Criteria Provided Conflicting Classifications	CA008731	rs_150973053	17 SubmittersRCV000034387 RCV000129715 RCV000122775 RCV000211891 RCV000417265 RCV001155264 RCV003944873
NM_000038.6(APC):c.5225G>A (p.Arg1742His)	SNV Germline	Chr5:112840819	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009940	rs_199775075	11 SubmittersRCV000034392 RCV000163663 RCV000119236 RCV001151699 RCV003996156
NM_000038.6(APC):c.607C>G (p.Gln203Glu)	SNV Germline	Chr5:112780865	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified APC-Associated Polyposis Disorders Desmoid disease, hereditary Familial adenomatous polyposis 1 Familial multiple polyposis syndrome Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA010884	rs_141576417	23 SubmittersRCV000034394 RCV000115109 RCV000120051 RCV001156934 RCV000709878 RCV000757929 RCV004803098 RCV000987552
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)	SNV Germline	Chr5:112842318	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Familial multiple polyposis syndrome Familial adenomatous polyposis 1 Carcinoma of colon Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Carcinoma of colon Hepatocellular carcinoma APC-Associated Polyposis Disorders APC-related disorder	Criteria Provided Conflicting Classifications	CA012449	rs_201375478	19 SubmittersRCV000034395 RCV000115114 RCV000211930 RCV000664301 RCV000987580 RCV001353961 RCV000515374 RCV001151801 RCV003944874
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)	SNV Germline	Chr5:112842630	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Carcinoma of colon Hepatocellular carcinoma Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders	Criteria Provided Conflicting Classifications	CA012759	rs_200756935	17 SubmittersRCV000034397 RCV000115118 RCV000120030 RCV000515182 RCV001083312 RCV001153053
NM_000038.6(APC):c.7415C>T (p.Ala2472Val)	SNV Germline	Chr5:112843009	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified APC-Associated Polyposis Disorders	Criteria Provided Conflicting Classifications	CA013674	rs_200399245	15 SubmittersRCV000034398 RCV000164132 RCV000122799 RCV000235447 RCV000408370
NM_000038.6(APC):c.7766A>G (p.Glu2589Gly)	SNV Germline	Chr5:112843360	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis not specified	Criteria Provided Conflicting Classifications	CA014023	rs_200406572	13 SubmittersRCV000034400 RCV000129389 RCV000200515 RCV003996157 RCV004595893
NM_000038.6(APC):c.7888G>A (p.Val2630Ile)	SNV Germline	Chr5:112843482	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA014160	rs_199688874	15 SubmittersRCV000034402 RCV000115124 RCV000254630 RCV000409244
NM_000038.6(APC):c.1495C>G (p.Arg499Gly)	SNV Germline	Chr5:112827194	Conflicting classifications of pathogenicity	Condition: not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome not specified Classic or attenuated familial adenomatous polyposis 6 conditions	Criteria Provided Conflicting Classifications	CA005217	rs_137854580	12 SubmittersRCV000034403 RCV000472427 RCV000564391 RCV000780856 RCV003996158 RCV005042106
NM_000038.6(APC):c.1604C>T (p.Ser535Phe)	SNV Germline	Chr5:112827984	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided not specified APC-related disorder Desmoid disease, hereditary Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA005357	rs_75870842	16 SubmittersRCV000144567 RCV000159535 RCV000034404 RCV000035065 RCV003904891 RCV005357248
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)	SNV Germline	Chr5:112828860	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1 Carcinoma of colon APC-Associated Polyposis Disorders Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA005403	rs_144056494	18 SubmittersRCV000034405 RCV000131638 RCV000211900 RCV000987559 RCV001353623 RCV001154528 RCV003996159 RCV004739315
NM_000038.6(APC):c.2297C>T (p.Ala766Val)	SNV Germline	Chr5:112837891	Conflicting classifications of pathogenicity	Condition: not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome not specified Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA007349	rs_200339830	14 SubmittersRCV000034407 RCV000199077 RCV000562498 RCV000779709 RCV003996160 RCV004739316
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)	SNV Germline	Chr5:112838767	Conflicting classifications of pathogenicity	Condition: not provided not specified Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders Hereditary cancer Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA008117	rs_148725540	28 SubmittersRCV000034408 RCV000120013 RCV000168362 RCV000115079 RCV000350760 RCV003492324 RCV004806016
NM_000038.6(APC):c.317G>A (p.Arg106His)	SNV Germline	Chr5:112767285	Conflicting classifications of pathogenicity	Condition: not provided not specified Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA008128	rs_201764637	15 SubmittersRCV000034409 RCV000455267 RCV000410470 RCV000565565 RCV000659270 RCV003996161
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)	SNV Germline	Chr5:112839966	Conflicting classifications of pathogenicity	Condition: not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma Hereditary cancer Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009490	rs_143796828	12 SubmittersRCV000034415 RCV000196865 RCV000159555 RCV000515179 RCV003492325 RCV003996164
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)	SNV Germline	Chr5:112840986	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Desmoid disease, hereditary APC-related disorder	Criteria Provided Conflicting Classifications	CA010373	rs_200794097	14 SubmittersRCV000035077 RCV000034417 RCV000167996 RCV000491791 RCV005364907 RCV004739317
NM_000038.6(APC):c.6873A>T (p.Gln2291His)	SNV Germline	Chr5:112842467	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified APC-Associated Polyposis Disorders Carcinoma of colon APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA012603	rs_148878262	22 SubmittersRCV000034419 RCV000131637 RCV000168325 RCV000211931 RCV001151804 RCV001353490 RCV004739318 RCV003996165
NM_000038.6(APC):c.695G>A (p.Arg232Gln)	SNV Germline	Chr5:112792495	Conflicting classifications of pathogenicity	Condition: not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA012709	rs_201727026	10 SubmittersRCV000034420 RCV000472572 RCV000490876 RCV003996166
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)	SNV Germline	Chr5:112843311	Conflicting classifications of pathogenicity	Condition: not provided Familial adenomatous polyposis 1 not specified Colorectal adenoma Hereditary cancer-predisposing syndrome Desmoid disease, hereditary Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA013990	rs_145444830	17 SubmittersRCV000034421 RCV000122803 RCV000236063 RCV000148373 RCV000163980 RCV005357250
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)	SNV Germline	Chr1:45331485	Conflicting classifications of pathogenicity	Condition: not provided Familial adenomatous polyposis 2 not specified Hereditary cancer-predisposing syndrome MUTYH-related disorder Familial colorectal cancer type X Carcinoma of colon	Criteria Provided Conflicting Classifications	CA011605	rs_144079536	22 SubmittersRCV000034669 RCV000123143 RCV000212714 RCV000115755 RCV004528162 RCV005357255 RCV001353918
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)	SNV Germline	Chr1:45331467	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Carcinoma of colon not specified Hereditary cancer MUTYH-related disorder	Criteria Provided Conflicting Classifications	CA011618	rs_150792276	25 SubmittersRCV000034670 RCV000115756 RCV000119122 RCV000144640 RCV000212715 RCV003492335 RCV004528163
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)	SNV Germline	Chr1:45334495	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Carcinoma of colon	Criteria Provided Conflicting Classifications	CA011771	rs_79777494	18 SubmittersRCV000034676 RCV000121605 RCV000129344 RCV000123151 RCV001353745
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)	SNV Germline	Chr1:45332446	Pathogenic	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial colorectal cancer Familial adenomatous polyposis 2 Gastric cancer Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA011806	rs_200495564	15 SubmittersRCV000034678 RCV000129829 RCV000482239 RCV000722047 RCV002496519 RCV003162293
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)	SNV Germline	Chr1:45334474	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 2 Carcinoma of colon	Criteria Provided Conflicting Classifications	CA011829	rs_75321043	19 SubmittersRCV000034680 RCV000129347 RCV000121606 RCV000123155 RCV001353637
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)	SNV Germline	Chr1:45332278	Conflicting classifications of pathogenicity	Condition: not provided Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome not specified Gastric cancer Familial adenomatous polyposis 2 MUTYH-related disorder	Criteria Provided Conflicting Classifications	CA011841	rs_149866955	21 SubmittersRCV000034681 RCV000123156 RCV000129219 RCV000613933 RCV005025089 RCV004739320
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)	SNV Germline	Chr1:45332174	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Hereditary cancer Familial colorectal cancer type X MUTYH-related disorder Gastric cancer Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA011853	rs_138089183	24 SubmittersRCV000034682 RCV000131155 RCV000198445 RCV000212709 RCV003492336 RCV005357256 RCV004528164 RCV005016322
NM_001048174.2(MUTYH):c.850-2A>G	SNV Germline	Chr1:45332088	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Condition: not provided not specified Hereditary cancer-predisposing syndrome Gastric cancer Carcinoma of colon MUTYH-related disorder	Criteria Provided Conflicting Classifications	CA011869	rs_77542170	19 SubmittersRCV000034683 RCV000212712 RCV000122431 RCV000129053 RCV001334797 RCV001357924 RCV004534727
NM_000038.6(APC):c.694C>T (p.Arg232Ter)	SNV Germline/somatic	Chr5:112792494	Pathogenic	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome Condition: not provided Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma Neoplasm	Reviewed By Expert Panel	CA012693	rs_397515734	18 SubmittersRCV000035081 RCV000491782 RCV000844606 RCV000486263 RCV000763537 RCV004668751
NM_000038.6(APC):c.2510C>G (p.Ser837Ter)	SNV Germline	Chr5:112838104	Pathogenic	Familial colorectal cancer Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA007554	rs_79512956	3 SubmittersRCV000073620 RCV002426625 RCV004562237
NM_000038.6(APC):c.311C>A (p.Ser104Ter)	SNV Unknown	Chr5:112767279	Pathogenic	Familial colorectal cancer Familial adenomatous polyposis 1	Criteria Provided Single Submitter	CA008053	rs_74953290	2 SubmittersRCV000073865 RCV003337231
NM_000038.6(APC):c.1005A>G (p.Leu335=)	SNV Germline	Chr5:112819037	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Carcinoma of colon Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA004030	rs_3797704	12 SubmittersRCV000077980 RCV000491005 RCV000723617 RCV001353629 RCV003764753 RCV003997193
NM_000038.6(APC):c.1659G>A (p.Trp553Ter)	SNV Germline	Chr5:112828888	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA005417	rs_398123116	4 SubmittersRCV000174655 RCV001012589 RCV004562244
NM_000038.6(APC):c.2365C>T (p.Gln789Ter)	SNV Germline/somatic	Chr5:112837959	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA007382	rs_398123117	6 SubmittersRCV000490954 RCV000657603 RCV004562245 RCV005229885
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter)	SNV Germline	Chr5:112839576	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Carcinoma of colon APC-related disorder 6 conditions Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA008851	rs_398123121	10 SubmittersRCV000077990 RCV000570934 RCV000501536 RCV003415842 RCV005031562 RCV004562246
NM_000038.6(APC):c.5363G>A (p.Arg1788His)	SNV Germline	Chr5:112840957	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders Condition: not provided Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach	Criteria Provided Conflicting Classifications	CA010335	rs_201472075	12 SubmittersRCV000159559 RCV000211922 RCV000232274 RCV000393057 RCV000590729 RCV000764566
NM_000038.6(APC):c.1213C>T (p.Arg405Ter)	SNV Germline	Chr5:112819245	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided APC-related disorder Familial multiple polyposis syndrome Inherited polyposis and early onset colorectal cancer - germline testing	Criteria Provided Multiple Submitters No Conflicts	CA004094	rs_587779780	19 SubmittersRCV000115066 RCV000234357 RCV000202096 RCV003925108 RCV003479005 RCV005055068
NM_000038.6(APC):c.2413C>T (p.Arg805Ter)	SNV Germline/somatic	Chr5:112838007	Pathogenic	Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome Condition: not provided Desmoid disease, hereditary APC-related attenuated familial adenomatous polyposis Gastric adenocarcinoma and proximal polyposis of the stomach Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis APC-related disorder Familial adenomatous polyposis 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA007452	rs_587779783	14 SubmittersRCV000115073 RCV000501097 RCV001270020 RCV001292808 RCV001824606 RCV003997211 RCV003935094 RCV004562255 RCV004668779
NM_000038.6(APC):c.3088A>T (p.Lys1030Ter)	SNV Germline	Chr5:112838682	Pathogenic	Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA008039	rs_587779786	3 SubmittersRCV000115077 RCV003764809
NM_000038.6(APC):c.3368A>C (p.Gln1123Pro)	SNV Germline	Chr5:112838962	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA008326	rs_587779789	9 SubmittersRCV000115081 RCV000569678 RCV001251414 RCV003997214 RCV004562256
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg)	SNV Germline	Chr5:112838972	Conflicting classifications of pathogenicity	not specified Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Carcinoma of colon Condition: not provided APC-Associated Polyposis Disorders	Criteria Provided Conflicting Classifications	CA008342	rs_149353082	15 SubmittersRCV000120024 RCV000411300 RCV000565031 RCV000677784 RCV000985246 RCV001154639
NM_000038.6(APC):c.3472A>T (p.Arg1158Ter)	SNV Germline	Chr5:112839066	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA008436	rs_587779790	4 SubmittersRCV000115085 RCV003278666 RCV004562257
NM_000038.6(APC):c.3632T>C (p.Met1211Thr)	SNV Germline	Chr5:112839226	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis 6 conditions	Criteria Provided Conflicting Classifications	CA008581	rs_575268622	7 SubmittersRCV000115086 RCV000772714 RCV000766434 RCV003764810 RCV003997215 RCV005031602
NM_000038.6(APC):c.3935G>C (p.Gly1312Ala)	SNV Germline	Chr5:112839529	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA008783	rs_587779791	4 SubmittersRCV000115088 RCV000562223 RCV003764811
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu)	SNV Germline	Chr5:112839954	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal adenoma not specified Familial multiple polyposis syndrome APC-Associated Polyposis Disorders Condition: not provided Familial adenomatous polyposis 1 Familial colorectal cancer	Criteria Provided Conflicting Classifications	CA009483	rs_111866410	18 SubmittersRCV000115092 RCV000148365 RCV000200964 RCV000238996 RCV000264340 RCV000586737 RCV000987572 RCV001270348
NM_000038.6(APC):c.4709A>G (p.Asp1570Gly)	SNV Germline	Chr5:112840303	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome APC-related disorder Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009695	rs_373419559	7 SubmittersRCV000115095 RCV000575957 RCV003935095 RCV004562259 RCV003997218
NM_000038.6(APC):c.4766G>A (p.Arg1589His)	SNV Germline	Chr5:112840360	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA009743	rs_374048423	9 SubmittersRCV000115096 RCV000758729 RCV003493442 RCV003997219 RCV002514577
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys)	SNV Germline	Chr5:112840611	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer APC-related disorder Classic or attenuated familial adenomatous polyposis Carcinoma of colon	Criteria Provided Conflicting Classifications	CA009832	rs_587779796	12 SubmittersRCV000219975 RCV000410427 RCV000758730 RCV003492449 RCV003952545 RCV003997220 RCV001355446
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)	SNV Germline	Chr5:112840620	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial multiple polyposis syndrome Condition: not provided Colorectal cancer Familial adenomatous polyposis 1 APC-related disorder Carcinoma of colon	Criteria Provided Conflicting Classifications	CA009838	rs_370560998	18 SubmittersRCV000115100 RCV000120016 RCV000210376 RCV000587987 RCV000735965 RCV004562262 RCV004739382 RCV001353642
NM_000038.6(APC):c.531+5G>A	SNV Germline	Chr5:112775742	Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Reviewed By Expert Panel	CA010191	rs_587779798	4 SubmittersRCV000115103 RCV002345412 RCV003337233
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)	SNV Germline	Chr5:112841122	Conflicting classifications of pathogenicity	not specified Familial multiple polyposis syndrome Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Desmoid disease, hereditary Diffuse midline glioma, H3 K27-altered 6 conditions	Criteria Provided Conflicting Classifications	CA010490	rs_368080169	20 SubmittersRCV000115104 RCV000202997 RCV000148372 RCV000572635 RCV000679068 RCV005359059 RCV003315229 RCV005042204
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser)	SNV Germline	Chr5:112841229	Conflicting classifications of pathogenicity	not specified Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA010547	rs_587779799	13 SubmittersRCV000115105 RCV000204622 RCV000759434 RCV000575966 RCV003997223
NM_000038.6(APC):c.5758C>G (p.Arg1920Gly)	SNV Germline	Chr5:112841352	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ovarian cancer Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA010637	rs_587779800	7 SubmittersRCV000115106 RCV000562980 RCV003153365 RCV003474709 RCV003997224
NM_000038.6(APC):c.646C>T (p.Arg216Ter)	SNV Germline/somatic	Chr5:112792446	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Hepatocellular carcinoma Neoplasm of stomach Familial adenomatous polyposis 1 Carcinoma of colon Desmoid disease, hereditary Familial multiple polyposis syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis 6 conditions Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA012198	rs_62619935	16 SubmittersRCV000115111 RCV000223521 RCV000763536 RCV002281931 RCV003460798 RCV003997226 RCV004796021 RCV004668780
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg)	SNV Germline	Chr5:112842067	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Condition: not provided Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA012210	rs_587779804	13 SubmittersRCV000115112 RCV000122792 RCV000235096 RCV000587692 RCV003997227 RCV003398710
NM_000038.6(APC):c.6691A>T (p.Ile2231Phe)	SNV Germline	Chr5:112842285	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA012398	rs_534228737	7 SubmittersRCV000115113 RCV000573892 RCV003997228 RCV004562265
NM_000038.6(APC):c.6857C>T (p.Ala2286Val)	SNV Germline	Chr5:112842451	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1 Familial colorectal cancer Condition: not provided APC-related disorder Classic or attenuated familial adenomatous polyposis Hereditary cancer	Criteria Provided Conflicting Classifications	CA012589	rs_200587641	18 SubmittersRCV000115116 RCV000120028 RCV000122796 RCV000501432 RCV003477493 RCV004739383 RCV004806060 RCV003492450
NM_000038.6(APC):c.7088A>G (p.Lys2363Arg)	SNV Germline	Chr5:112842682	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA012825	rs_587779806	5 SubmittersRCV000115119 RCV001026018 RCV003997229 RCV004562266
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)	SNV Germline	Chr5:112842993	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1 Condition: not provided Colorectal cancer Carcinoma of colon Hereditary cancer APC-related disorder	Criteria Provided Conflicting Classifications	CA013653	rs_372305287	20 SubmittersRCV000115120 RCV000120031 RCV000148360 RCV000590816 RCV000735966 RCV001353987 RCV004700415 RCV004739384
NM_000038.6(APC):c.7570A>G (p.Lys2524Glu)	SNV Germline	Chr5:112843164	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA013850	rs_143060722	10 SubmittersRCV000115122 RCV000409766 RCV000211934 RCV001201308 RCV003997230
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn)	SNV Germline	Chr5:112843855	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided not specified APC-related disorder Desmoid disease, hereditary Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA014491	rs_369721828	15 SubmittersRCV000115128 RCV000197863 RCV000590250 RCV000722129 RCV003952546 RCV005359061 RCV003997232
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu)	SNV Germline	Chr2:214728894	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of breast Familial adenomatous polyposis 2 BARD1-related cancer predisposition not specified	Criteria Provided Conflicting Classifications	CA331819	rs_149262370	13 SubmittersRCV000115626 RCV000204656 RCV000590177 RCV001355765 RCV003153369 RCV005600671 RCV005055583
NM_001048174.2(MUTYH):c.1486A>T (p.Met496Leu)	SNV Germline	Chr1:45329386	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA011670	rs_587780080	6 SubmittersRCV000115751 RCV000212722 RCV000233496
NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln)	SNV Germline	Chr1:45334492	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided not specified Gastric cancer Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA011787	rs_587780081	14 SubmittersRCV000115752 RCV000230254 RCV000212697 RCV001194162 RCV005025179
NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter)	SNV Germline	Chr1:45331835	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2 Familial adenomatous polyposis 2 Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA011953	rs_587780082	13 SubmittersRCV000115753 RCV000212713 RCV000465024 RCV002498495
NM_001048174.2(MUTYH):c.1409A>G (p.Gln470Arg)	SNV Germline	Chr1:45330541	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2 Pilomatrixoma Familial adenomatous polyposis 2 Neoplasm of stomach	Criteria Provided Conflicting Classifications	CA012941	rs_587780085	10 SubmittersRCV000115760 RCV000212721 RCV000640383 RCV000765173
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln)	SNV Germline	Chr1:45329400	Conflicting classifications of pathogenicity	Condition: not provided Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA013025	rs_369410616	10 SubmittersRCV000115761 RCV000123146 RCV000216371 RCV001731381
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)	SNV Germline	Chr1:45334493	Pathogenic/Likely pathogenic	Condition: not provided Carcinoma of colon Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Pilomatrixoma Familial adenomatous polyposis 2 Neoplasm of stomach Gastric cancer Familial adenomatous polyposis 2 Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA013854	rs_587780088	12 SubmittersRCV000115767 RCV000144639 RCV000206117 RCV000447652 RCV000763343 RCV005394393 RCV003162540
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln)	SNV Germline	Chr1:45332767	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided Pilomatrixoma Neoplasm of stomach Familial adenomatous polyposis 2 not specified	Criteria Provided Conflicting Classifications	CA013903	rs_369677603	13 SubmittersRCV000115768 RCV000168022 RCV000212702 RCV000765176 RCV001192928
NM_001048174.2(MUTYH):c.914-9C>T	SNV Germline	Chr1:45331858	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Carcinoma of colon Condition: not provided	Criteria Provided Conflicting Classifications	CA014799	rs_3219488	16 SubmittersRCV000126894 RCV000448544 RCV000986302 RCV001353610 RCV000590480
NM_000038.6(APC):c.1441G>A (p.Val481Met)	SNV Germline	Chr5:112827140	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA005150	rs_587780542	14 SubmittersRCV000119171 RCV000164862 RCV000585957 RCV002469015 RCV003997301
NM_000038.6(APC):c.689G>A (p.Arg230His)	SNV Germline	Chr5:112792489	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA012635	rs_587780545	9 SubmittersRCV000119182 RCV000589003 RCV000579594 RCV005365007
NM_000038.6(APC):c.6525A>G (p.Thr2175=)	SNV Germline	Chr5:112842119	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified APC-Associated Polyposis Disorders Condition: not provided APC-related disorder Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA012255	rs_200151646	14 SubmittersRCV000159521 RCV000254629 RCV000374754 RCV001310856 RCV003915184 RCV004567033 RCV003997303
NM_000038.6(APC):c.3374T>C (p.Val1125Ala)	SNV Germline	Chr5:112838968	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome not specified APC-Associated Polyposis Disorders Neoplasm of the liver Condition: not provided Carcinoma of colon	Criteria Provided Conflicting Classifications	CA008333	rs_377278397	16 SubmittersRCV000119206 RCV000130570 RCV000235422 RCV000368182 RCV000677781 RCV000588540 RCV001354303
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)	SNV Germline	Chr1:45333449	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Carcinoma of colon	Criteria Provided Conflicting Classifications	CA011752	rs_121908380	28 SubmittersRCV000119223 RCV000126890 RCV000177119 RCV000513902 RCV001353596
NM_000038.6(APC):c.4237A>G (p.Met1413Val)	SNV Germline	Chr5:112839831	Conflicting classifications of pathogenicity	not specified Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Colorectal adenoma Condition: not provided APC-related disorder Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA009368	rs_141519952	17 SubmittersRCV000120015 RCV000122777 RCV000131786 RCV000148358 RCV000589855 RCV003915187 RCV005359126
NM_000038.6(APC):c.7621A>G (p.Ile2541Val)	SNV Germline	Chr5:112843215	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA013946	rs_587778033	12 SubmittersRCV000120020 RCV000565915 RCV000589511 RCV004562269
NM_000038.6(APC):c.8273A>G (p.Glu2758Gly)	SNV Germline	Chr5:112843867	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA014512	rs_371616945	13 SubmittersRCV000120021 RCV000222148 RCV000409341 RCV000767111 RCV003997328
NM_000038.6(APC):c.3875C>T (p.Thr1292Met)	SNV Germline	Chr5:112839469	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided Desmoid disease, hereditary Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA008722	rs_371113837	14 SubmittersRCV000120026 RCV000129039 RCV000198586 RCV000657042 RCV005359127
NM_000038.6(APC):c.6754C>G (p.Pro2252Ala)	SNV Germline	Chr5:112842348	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA012481	rs_587778035	5 SubmittersRCV000120027 RCV005384653 RCV003764835
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)	SNV Germline	Chr5:112843084	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders Condition: not provided Familial adenomatous polyposis 1 Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA013717	rs_141010008	20 SubmittersRCV000120032 RCV000131590 RCV001153055 RCV000587624 RCV004562271 RCV005359128
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile)	SNV Germline	Chr5:112843426	Conflicting classifications of pathogenicity	not specified Familial adenomatous polyposis 1 Colon adenocarcinoma Hereditary cancer-predisposing syndrome Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA014100	rs_587778037	12 SubmittersRCV000120033 RCV000230402 RCV000677760 RCV000774673 RCV000586315 RCV003997330
NM_000038.6(APC):c.3007G>A (p.Asp1003Asn)	SNV Germline	Chr5:112838601	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Desmoid disease, hereditary Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA007992	rs_564314108	10 SubmittersRCV000120035 RCV000568678 RCV001775597 RCV004019666 RCV005359129 RCV003997331
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg)	SNV Germline	Chr5:112842501	Conflicting classifications of pathogenicity	not specified Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA012645	rs_544549596	13 SubmittersRCV000120043 RCV000546435 RCV000574195 RCV001356898 RCV003997334
NM_000038.6(APC):c.8146G>C (p.Val2716Leu)	SNV Germline	Chr5:112843740	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA014405	rs_587778044	7 SubmittersRCV000120045 RCV000166038 RCV000767040 RCV002515816 RCV003997336
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser)	SNV Germline	Chr5:112843926	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Neoplasm of the liver Hepatocellular carcinoma Intrahepatic cholangiocarcinoma Condition: not provided APC-related disorder Familial adenomatous polyposis 1 Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA014561	rs_587778046	12 SubmittersRCV000120047 RCV000163521 RCV000199434 RCV000677785 RCV000677786 RCV000677787 RCV001704030 RCV003952585 RCV005359131
NM_000038.6(APC):c.385G>C (p.Glu129Gln)	SNV Germline	Chr5:112767353	Conflicting classifications of pathogenicity	not specified Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Desmoid disease, hereditary APC-related disorder	Criteria Provided Conflicting Classifications	CA008713	rs_376628500	15 SubmittersRCV000120050 RCV000196705 RCV000216893 RCV000589545 RCV005359132 RCV004739410
NM_001048174.2(MUTYH):c.752A>C (p.Asn251Thr)	SNV Germline	Chr1:45332263	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA014438	rs_587778534	9 SubmittersRCV000121590 RCV000491219 RCV000410208 RCV000985864
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)	SNV Germline	Chr1:45332035	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided Pilomatrixoma Neoplasm of stomach Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA014772	rs_147718169	18 SubmittersRCV000121592 RCV000129011 RCV000205715 RCV000656910 RCV000515294
NM_001048174.2(MUTYH):c.953C>T (p.Ser318Leu)	SNV Germline	Chr1:45331810	Conflicting classifications of pathogenicity	not specified Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA012017	rs_587778538	11 SubmittersRCV000121595 RCV000123137 RCV000216934 RCV001582593
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)	SNV Germline	Chr1:45330526	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided Hereditary cancer MUTYH-related disorder Gastric cancer Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA012960	rs_3219494	17 SubmittersRCV000121600 RCV000130413 RCV000195990 RCV000585961 RCV003492527 RCV004528833 RCV002498570
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)	SNV Germline	Chr1:45329409	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA012986	rs_587778542	10 SubmittersRCV000121602 RCV000131522 RCV000457983 RCV000656914
NM_000038.6(APC):c.2593C>T (p.Pro865Ser)	SNV Germline	Chr5:112838187	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome APC-Associated Polyposis Disorders Condition: not provided Gardner syndrome APC-related attenuated familial adenomatous polyposis not specified Hereditary cancer	Criteria Provided Conflicting Classifications	CA007632	rs_192620988	18 SubmittersRCV000122764 RCV000131163 RCV000238728 RCV000348086 RCV000587302 RCV005359147 RCV002228418 RCV003492529
NM_000038.6(APC):c.263G>A (p.Arg88Gln)	SNV Germline	Chr5:112767231	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA007680	rs_587780592	7 SubmittersRCV000122766 RCV000413883 RCV000566722
NM_000038.6(APC):c.2658G>T (p.Gln886His)	SNV Germline	Chr5:112838252	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 not specified Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome APC-Associated Polyposis Disorders Classic or attenuated familial adenomatous polyposis Gastric adenocarcinoma and proximal polyposis of the stomach	Criteria Provided Conflicting Classifications	CA007712	rs_587780593	12 SubmittersRCV000122768 RCV000485846 RCV000574171 RCV000664308 RCV001157044 RCV003997374 RCV003325185
NM_000038.6(APC):c.3628C>T (p.His1210Tyr)	SNV Germline	Chr5:112839222	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA008571	rs_145181563	9 SubmittersRCV000129238 RCV001357972 RCV002515908 RCV003997376
NM_000038.6(APC):c.4249A>C (p.Ile1417Leu)	SNV Germline	Chr5:112839843	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis not specified	Criteria Provided Conflicting Classifications	CA009397	rs_200166878	9 SubmittersRCV000122779 RCV000235379 RCV000575531 RCV003997378 RCV001193569
NM_000038.6(APC):c.4333A>G (p.Thr1445Ala)	SNV Germline	Chr5:112839927	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA009444	rs_587780597	9 SubmittersRCV000122780 RCV000567758 RCV001284708
NM_000038.6(APC):c.4525C>T (p.Leu1509=)	SNV Germline	Chr5:112840119	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009609	rs_572839648	7 SubmittersRCV001022639 RCV001284712 RCV003764852 RCV003997379
NM_000038.6(APC):c.5009C>T (p.Ala1670Val)	SNV Germline	Chr5:112840603	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome not specified Condition: not provided Carcinoma of colon	Criteria Provided Conflicting Classifications	CA009818	rs_202228932	17 SubmittersRCV000122783 RCV000128987 RCV000236885 RCV000586353 RCV001353632
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)	SNV Germline	Chr5:112840734	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 not specified Condition: not provided Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders APC-related disorder	Criteria Provided Conflicting Classifications	CA009886	rs_148275069	17 SubmittersRCV000122784 RCV000479916 RCV000587086 RCV000129088 RCV001157159 RCV003389701
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)	SNV Germline	Chr5:112841395	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome not specified Colorectal cancer, susceptibility to Familial multiple polyposis syndrome Condition: not provided APC-Associated Polyposis Disorders Carcinoma of colon Desmoid disease, hereditary Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach APC-related disorder Hereditary cancer Classic or attenuated familial adenomatous polyposis 6 conditions	Criteria Provided Conflicting Classifications	CA010706	rs_587780600	19 SubmittersRCV000122787 RCV000159562 RCV000211923 RCV000210078 RCV000210900 RCV000656747 RCV001155575 RCV000764567 RCV003398739 RCV005235024 RCV005359149 RCV005031631
NM_000038.6(APC):c.6985A>G (p.Ile2329Val)	SNV Germline	Chr5:112842579	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal adenoma not specified Familial adenomatous polyposis 1 Condition: not provided APC-Associated Polyposis Disorders Ovarian cancer Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA012738	rs_146048493	16 SubmittersRCV000131625 RCV000148359 RCV000211933 RCV000987581 RCV001719892 RCV001151806 RCV003153405 RCV004806072 RCV003905173
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser)	SNV Germline	Chr5:112843219	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 not specified Condition: not provided Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA013956	rs_151163793	11 SubmittersRCV000122802 RCV000235882 RCV000766452 RCV000575243 RCV003997387
NM_000038.6(APC):c.777G>T (p.Arg259=)	SNV Germline	Chr5:112801326	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified APC-Associated Polyposis Disorders Carcinoma of colon Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA014042	rs_147704593	14 SubmittersRCV000123678 RCV000759445 RCV000211894 RCV001151508 RCV001353450 RCV003997388 RCV004019702
NM_000038.6(APC):c.8162G>A (p.Arg2721His)	SNV Germline	Chr5:112843756	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA014419	rs_587780606	8 SubmittersRCV000218426 RCV000479454 RCV003997389 RCV003474735
NM_000038.6(APC):c.8266A>G (p.Ile2756Val)	SNV Germline	Chr5:112843860	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Colorectal adenoma Condition: not provided Hereditary cancer-predisposing syndrome not specified APC-Associated Polyposis Disorders Desmoid disease, hereditary Familial adenomatous polyposis 1 Ovarian cancer	Criteria Provided Conflicting Classifications	CA014501	rs_146115809	17 SubmittersRCV000122809 RCV000148374 RCV000587542 RCV000493019 RCV001549270 RCV001157355 RCV005365010 RCV003153406
NM_000038.6(APC):c.8524T>G (p.Ser2842Ala)	SNV Germline	Chr5:112844118	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA015593	rs_587780610	7 SubmittersRCV000122813 RCV001017958 RCV003997392 RCV003415925
NM_000038.6(APC):c.883A>G (p.Ser295Gly)	SNV Germline	Chr5:112815543	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Ovarian cancer Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA015623	rs_587780611	8 SubmittersRCV000213708 RCV001192830 RCV001778740 RCV003153407 RCV004567057
NM_001048174.2(MUTYH):c.1102+9A>T	SNV Germline	Chr1:45331652	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA012236	rs_587780742	15 SubmittersRCV000123140 RCV000129212 RCV000431410 RCV000589767
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr)	SNV Germline	Chr1:45331488	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Pilomatrixoma Neoplasm of stomach Familial adenomatous polyposis 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA012424	rs_587780744	13 SubmittersRCV000123142 RCV000130485 RCV000515285 RCV000590647 RCV001175350
NM_001048174.2(MUTYH):c.184G>A (p.Val62Ile)	SNV Germline	Chr1:45333493	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA013287	rs_375526246	5 SubmittersRCV000123148 RCV000213878
NM_001048174.2(MUTYH):c.229G>A (p.Asp77Asn)	SNV Germline	Chr1:45333448	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA013355	rs_587780746	16 SubmittersRCV000131617 RCV000123149 RCV000609799 RCV000759161
NM_001128425.2(MUTYH):c.38C>T (p.Ala13Val)	SNV Germline	Chr1:45334510	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided not specified Familial adenomatous polyposis 2 Gastric cancer	Criteria Provided Conflicting Classifications	CA013492	rs_587780747	10 SubmittersRCV000131635 RCV000123150 RCV000485844 RCV001260346 RCV005394451
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)	SNV Germline	Chr1:45332479	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Gastric cancer Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA014145	rs_200165598	20 SubmittersRCV000123153 RCV000212704 RCV000131773 RCV000586141 RCV005016424
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)	SNV Germline	Chr1:45332443	Likely pathogenic	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Condition: not provided Pilomatrixoma Gastric cancer Familial adenomatous polyposis 2	Criteria Provided Multiple Submitters No Conflicts	CA014236	rs_587780749	16 SubmittersRCV000123154 RCV000131615 RCV000212707 RCV001292933 RCV005025203
NM_001048174.2(MUTYH):c.849+3A>C	SNV Germline	Chr1:45332163	Pathogenic/Likely pathogenic	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Condition: not provided Colon cancer MUTYH-related disorder Carcinoma of colon Gastric cancer Familial adenomatous polyposis 2	Criteria Provided Multiple Submitters No Conflicts	CA014676	rs_587780751	28 SubmittersRCV000123158 RCV000129539 RCV000212711 RCV000626760 RCV004542929 RCV001353438 RCV005016425
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=)	SNV Germline	Chr1:45334506	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Carcinoma of colon Condition: not provided	Criteria Provided Conflicting Classifications	CA011900	rs_202240122	11 SubmittersRCV000126888 RCV000204527 RCV000212696 RCV001355457 RCV001800419
NM_001048174.2(MUTYH):c.116-54C>T	SNV Germline	Chr1:45333615	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA013081	rs_367908623	6 SubmittersRCV000409930 RCV000579849 RCV000126889
NM_001048174.2(MUTYH):c.421-4A>G	SNV Germline	Chr1:45332838	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA013701	rs_201678305	15 SubmittersRCV000129020 RCV000196799 RCV000212701 RCV000759163
NM_001048174.2(MUTYH):c.1166G>A (p.Arg389His)	SNV Germline	Chr1:45331493	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided not specified Gastric cancer Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA012406	rs_373803765	8 SubmittersRCV000128948 RCV000461545 RCV001582599 RCV003235050 RCV002478383
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn)	SNV Germline	Chr5:112843062	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Carcinoma of colon Familial adenomatous polyposis 1 Condition: not provided not specified APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA013697	rs_538230198	13 SubmittersRCV000128974 RCV000481415 RCV000409539 RCV000656750 RCV001731385 RCV003407537 RCV003997468
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter)	SNV Germline	Chr1:45333166	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2	Criteria Provided Multiple Submitters No Conflicts	CA013516	rs_587781295	7 SubmittersRCV000128998 RCV000521741 RCV001068416
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His)	SNV Germline	Chr1:45332941	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Condition: not provided MUTYH-related disorder	Criteria Provided Conflicting Classifications	CA013648	rs_564930066	16 SubmittersRCV000129002 RCV000204817 RCV000481844 RCV000656908 RCV004532541
NM_001048174.2(MUTYH):c.1219C>T (p.His407Tyr)	SNV Germline	Chr1:45331440	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2 not specified	Criteria Provided Conflicting Classifications	CA012561	rs_141432759	8 SubmittersRCV000129005 RCV000587968 RCV000410796 RCV004525829
NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter)	SNV Germline	Chr1:45333472	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2 Familial adenomatous polyposis 2 Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA013297	rs_138775799	12 SubmittersRCV000129018 RCV000235267 RCV000471769 RCV005394466
NM_000038.6(APC):c.6977G>A (p.Arg2326Gln)	SNV Germline	Chr5:112842571	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1 APC-related attenuated familial adenomatous polyposis Gastric adenocarcinoma and proximal polyposis of the stomach not specified	Criteria Provided Conflicting Classifications	CA012730	rs_531178000	13 SubmittersRCV000129062 RCV000480098 RCV003325186 RCV003997477 RCV001824638 RCV002271411
NM_001048174.2(MUTYH):c.1102+1G>A	SNV Germline	Chr1:45331660	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided MUTYH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA012227	rs_587781337	9 SubmittersRCV000129098 RCV000503838 RCV001353653 RCV004532544
NM_001048174.2(MUTYH):c.856C>T (p.Gln286Ter)	SNV Germline	Chr1:45332080	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA014709	rs_587781338	5 SubmittersRCV000129103 RCV000527702 RCV000478448
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	SNV Germline	Chr1:45332445	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided Pilomatrixoma Neoplasm of stomach Familial adenomatous polyposis 2 Breast carcinoma Carcinoma of colon Diffuse midline glioma, H3 K27-altered MUTYH-related disorder Gastric cancer Familial adenomatous polyposis 2	Criteria Provided Multiple Submitters No Conflicts	CA014226	rs_140342925	28 SubmittersRCV000129105 RCV000196778 RCV000212706 RCV000515198 RCV001262379 RCV001353906 RCV003313780 RCV004532545 RCV005016430
NM_000038.6(APC):c.4055T>C (p.Val1352Ala)	SNV Germline	Chr5:112839649	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ovarian cancer Familial adenomatous polyposis 1 not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA008875	rs_528724202	9 SubmittersRCV000129128 RCV001704052 RCV003153412 RCV000646425 RCV000483615 RCV003997481
NM_000038.6(APC):c.5257G>C (p.Ala1753Pro)	SNV Germline	Chr5:112840851	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009970	rs_587781350	8 SubmittersRCV000129133 RCV002514711 RCV003997484
NM_000038.6(APC):c.1895T>C (p.Ile632Thr)	SNV Germline	Chr5:112835102	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA006270	rs_587781360	8 SubmittersRCV000129152 RCV000211901 RCV001778746 RCV002514712 RCV003997485
NM_000038.6(APC):c.637C>T (p.Arg213Ter)	SNV Germline/somatic	Chr5:112780895	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Familial multiple polyposis syndrome Carcinoma of colon Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA011131	rs_587781392	11 SubmittersRCV000129233 RCV000202175 RCV000763535 RCV002512529 RCV000825611 RCV001353439 RCV004668789
NM_000038.6(APC):c.8146G>A (p.Val2716Met)	SNV Germline	Chr5:112843740	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA014393	rs_587778044	6 SubmittersRCV000129235 RCV000206635 RCV003148656
NM_000038.6(APC):c.5290C>G (p.Gln1764Glu)	SNV Germline	Chr5:112840884	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Colorectal cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA010025	rs_529543591	8 SubmittersRCV000129346 RCV000206391 RCV000677788 RCV004589623
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)	SNV Germline	Chr5:112843977	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal adenoma not specified Familial adenomatous polyposis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA015437	rs_369264968	15 SubmittersRCV000129383 RCV000148362 RCV000235766 RCV000410318 RCV000657075
NM_000038.6(APC):c.2780C>G (p.Ala927Gly)	SNV Germline	Chr5:112838374	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis Condition: not provided not specified Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA007779	rs_587781500	10 SubmittersRCV000129473 RCV003997504 RCV000483264 RCV000779714 RCV002514719
NM_001048174.2(MUTYH):c.836G>A (p.Arg279Gln)	SNV Germline	Chr1:45332179	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2 not specified	Criteria Provided Conflicting Classifications	CA014631	rs_140156029	9 SubmittersRCV000129507 RCV000586807 RCV000467096 RCV000484904
NM_000038.6(APC):c.5879C>T (p.Pro1960Leu)	SNV Germline	Chr5:112841473	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided APC-Associated Polyposis Disorders Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA010760	rs_587781546	13 SubmittersRCV000129560 RCV000411270 RCV000985310 RCV001155576 RCV003997510
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr)	SNV Germline	Chr5:112839666	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Condition: not provided APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA008897	rs_139618756	15 SubmittersRCV000129585 RCV000167896 RCV000211912 RCV000588058 RCV004739432 RCV003997513
NM_000038.6(APC):c.854A>G (p.Asp285Gly)	SNV Germline	Chr5:112815514	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 6 conditions Classic or attenuated familial adenomatous polyposis Desmoid disease, hereditary Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA015607	rs_201093383	10 SubmittersRCV000129720 RCV000211896 RCV000229223 RCV002478388 RCV003997520 RCV005359212
NM_001048174.2(MUTYH):c.1103-2A>G	SNV Germline	Chr1:45331558	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Carcinoma of colon Familial adenomatous polyposis 2 Condition: not provided Gastric cancer Familial adenomatous polyposis 2	Criteria Provided Multiple Submitters No Conflicts	CA012245	rs_587781628	15 SubmittersRCV000129730 RCV000172819 RCV000338621 RCV000480885 RCV002478389
NM_000038.6(APC):c.3824G>C (p.Ser1275Thr)	SNV Germline	Chr5:112839418	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis not specified APC-related disorder	Criteria Provided Conflicting Classifications	CA008695	rs_587781637	11 SubmittersRCV000129750 RCV000211911 RCV000412401 RCV003997521 RCV001818303 RCV003407543
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)	SNV Germline	Chr5:112843983	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders Condition: not provided Hepatocellular carcinoma Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Carcinoma of colon not specified Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA015444	rs_147287751	17 SubmittersRCV000129949 RCV000198030 RCV000283075 RCV000656753 RCV000515282 RCV002267871 RCV005359221
NM_000038.6(APC):c.220+2T>A	SNV Germline	Chr5:112766412	Pathogenic	Hereditary cancer-predisposing syndrome Carcinoma of colon Condition: not provided Familial multiple polyposis syndrome Familial adenomatous polyposis 1	Reviewed By Expert Panel	CA007244	rs_587781809	10 SubmittersRCV000130080 RCV000503701 RCV000202191 RCV005415550 RCV004562290
NM_000038.6(APC):c.4478C>T (p.Thr1493Met)	SNV Germline	Chr5:112840072	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009574	rs_374892194	12 SubmittersRCV000130087 RCV000228695 RCV000590777 RCV003997547
NM_000038.6(APC):c.7858T>A (p.Phe2620Ile)	SNV Germline	Chr5:112843452	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA014111	rs_587781816	11 SubmittersRCV000130090 RCV000195856 RCV000485276 RCV001797633 RCV003997549
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp)	SNV Germline	Chr1:45332791	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided Colon cancer	Criteria Provided Multiple Submitters No Conflicts	CA013822	rs_587781864	10 SubmittersRCV000130180 RCV000456187 RCV000519177 RCV004698338
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr)	SNV Germline	Chr1:45331241	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial colorectal cancer type X Familial adenomatous polyposis 2 Gastric cancer	Criteria Provided Conflicting Classifications	CA012742	rs_192816572	16 SubmittersRCV000198237 RCV000130207 RCV000212718 RCV000656912 RCV005359229 RCV002505107
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)	SNV Germline	Chr5:112842233	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided Hepatocellular carcinoma Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Carcinoma of colon APC-Associated Polyposis Disorders not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA012330	rs_35540155	12 SubmittersRCV000130211 RCV000409211 RCV000484737 RCV000765788 RCV001157265 RCV002222403 RCV005359230
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu)	SNV Germline	Chr5:112842376	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA012518	rs_376494248	11 SubmittersRCV000130294 RCV000255155 RCV000410458 RCV001192912 RCV003998052
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)	SNV Germline	Chr5:112839219	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided APC-Associated Polyposis Disorders not specified Hereditary cancer Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA008564	rs_201185479	14 SubmittersRCV000130302 RCV000198440 RCV000236652 RCV001154640 RCV003479014 RCV003492599 RCV003998054 RCV004739443
NM_000038.6(APC):c.8276G>A (p.Arg2759His)	SNV Germline	Chr5:112843870	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma APC-related disorder Familial adenomatous polyposis 1 Condition: not provided not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA014525	rs_538289470	10 SubmittersRCV000130304 RCV000765791 RCV003430706 RCV003764867 RCV001549810 RCV002469020 RCV003998055
NM_000038.6(APC):c.3426T>A (p.Asn1142Lys)	SNV Germline	Chr5:112839020	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA008381	rs_375478525	6 SubmittersRCV000130415 RCV000235983 RCV003998057 RCV004562294
NM_001048174.2(MUTYH):c.1172C>A (p.Ala391Asp)	SNV Germline	Chr1:45331487	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA012438	rs_369299948	11 SubmittersRCV000130546 RCV000408991 RCV000759155 RCV003987370
NM_001128425.2(MUTYH):c.158-2A>G	SNV Germline	Chr1:45333605	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA011716	rs_587782066	3 SubmittersRCV000130550 RCV000792075
NM_000038.6(APC):c.646C>G (p.Arg216Gly)	SNV Germline	Chr5:112792446	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 6 conditions	Criteria Provided Conflicting Classifications	CA012188	rs_62619935	3 SubmittersRCV000130641 RCV003764868 RCV005031639
NM_000038.6(APC):c.449A>G (p.Lys150Arg)	SNV Germline	Chr5:112775655	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Colorectal adenoma not specified Condition: not provided APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009591	rs_371085910	17 SubmittersRCV000130643 RCV000206082 RCV000148370 RCV000211892 RCV000656744 RCV004739446 RCV003998072
NM_000038.6(APC):c.5690A>C (p.His1897Pro)	SNV Germline	Chr5:112841284	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided APC-related disorder	Criteria Provided Conflicting Classifications	CA010592	rs_112610898	13 SubmittersRCV000130647 RCV000198116 RCV000586043 RCV003905232
NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln)	SNV Germline	Chr1:45331433	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA012591	rs_587782120	9 SubmittersRCV000130651 RCV000234150 RCV000587516 RCV001290443
NM_001048174.2(MUTYH):c.882C>G (p.Ser294Arg)	SNV Germline	Chr1:45332054	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA014745	rs_138833473	6 SubmittersRCV000130715 RCV000410968 RCV001564902
NM_001048174.2(MUTYH):c.367G>A (p.Gly123Arg)	SNV Germline	Chr1:45333108	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA013601	rs_587782165	3 SubmittersRCV000130757 RCV000688220
NM_000038.6(APC):c.3691C>G (p.Leu1231Val)	SNV Germline	Chr5:112839285	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA008636	rs_573020080	6 SubmittersRCV000130799 RCV000484966 RCV002514736 RCV003998080
NM_000038.6(APC):c.6637A>G (p.Met2213Val)	SNV Germline	Chr5:112842231	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer APC-related disorder not specified	Criteria Provided Conflicting Classifications	CA012319	rs_186926737	11 SubmittersRCV000130848 RCV000409644 RCV000236813 RCV003492605 RCV003905234 RCV001174857
NM_001048174.2(MUTYH):c.517A>G (p.Met173Val)	SNV Germline	Chr1:45332663	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA013944	rs_587782258	2 SubmittersRCV000130971 RCV003998085
NM_000038.6(APC):c.423-3T>A	SNV Germline	Chr5:112775626	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA009307	rs_587782293	9 SubmittersRCV000131175 RCV000686573 RCV001353717
NM_000455.5(STK11):c.1012G>A (p.Val338Met)	SNV Germline	Chr19:1223076	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome Condition: not provided Generalized juvenile polyposis/juvenile polyposis coli Carcinoma of pancreas Peutz-Jeghers syndrome Malignant tumor of testis Familial adenomatous polyposis 2 STK11-related disorder	Criteria Provided Conflicting Classifications	CA022150	rs_587782302	14 SubmittersRCV000131186 RCV000168376 RCV000222337 RCV001354464 RCV000765433 RCV002243796 RCV003407552
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)	SNV Germline	Chr5:112840359	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Diffuse midline glioma, H3 K27-altered Gastric cancer not specified Classic or attenuated familial adenomatous polyposis APC-Associated Polyposis Disorders Hereditary cancer	Criteria Provided Conflicting Classifications	CA009730	rs_72541813	20 SubmittersRCV000131191 RCV000211915 RCV000232313 RCV003325188 RCV005359254 RCV001818321 RCV003998088 RCV001157157 RCV003492615
NM_000038.6(APC):c.3205A>G (p.Arg1069Gly)	SNV Germline	Chr5:112838799	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided Classic or attenuated familial adenomatous polyposis Hereditary cancer	Criteria Provided Conflicting Classifications	CA008168	rs_375408871	9 SubmittersRCV000131243 RCV000230602 RCV000758727 RCV003998093 RCV004700448
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp)	SNV Germline	Chr5:112840512	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided not specified Classic or attenuated familial adenomatous polyposis 6 conditions	Criteria Provided Conflicting Classifications	CA009806	rs_373440614	17 SubmittersRCV000131255 RCV000148368 RCV000587871 RCV001175337 RCV003998094 RCV005031641
NM_000038.6(APC):c.4441G>A (p.Val1481Ile)	SNV Germline	Chr5:112840035	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA009548	rs_587782349	3 SubmittersRCV000131289 RCV004562300
NM_000038.6(APC):c.848G>A (p.Arg283Gln)	SNV Germline	Chr5:112815508	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided not specified APC-related disorder Gardner syndrome	Criteria Provided Conflicting Classifications	CA015555	rs_149154604	12 SubmittersRCV000131302 RCV000167872 RCV000211895 RCV000779725 RCV003925279 RCV005359259
NM_001048174.2(MUTYH):c.83A>G (p.Asn28Ser)	SNV Germline	Chr1:45334423	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA012458	rs_563275223	7 SubmittersRCV000131452 RCV000824066 RCV001194163 RCV004719710
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)	SNV Germline	Chr1:45330550	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Condition: not provided Carcinoma of colon	Criteria Provided Conflicting Classifications	CA012925	rs_144111588	16 SubmittersRCV000131561 RCV000231615 RCV000236240 RCV000656913 RCV001353893
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)	SNV Germline	Chr5:112843380	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA014059	rs_138137162	14 SubmittersRCV000131566 RCV000229880 RCV000478677 RCV000656752
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys)	SNV Germline	Chr5:112842273	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1 Colorectal cancer, susceptibility to Condition: not provided APC-related disorder Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1 Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA012371	rs_367905430	15 SubmittersRCV000131588 RCV000211929 RCV000234415 RCV000210106 RCV000590651 RCV004739454 RCV003998109 RCV005359274
NM_000038.6(APC):c.6249A>G (p.Ile2083Met)	SNV Germline	Chr5:112841843	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA011046	rs_374625279	7 SubmittersRCV000131598 RCV000759439 RCV002512548 RCV003998112
NM_000038.6(APC):c.4216C>T (p.Gln1406Ter)	SNV Germline	Chr5:112839810	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA008967	rs_587782518	3 SubmittersRCV000131673 RCV004562301
NM_001048174.2(MUTYH):c.1239G>A (p.Glu413=)	SNV Germline	Chr1:45331420	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA012624	rs_587782564	7 SubmittersRCV000131785 RCV000462220 RCV000579114 RCV005417970
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)	SNV Germline	Chr1:45331529	Pathogenic	Hereditary cancer-predisposing syndrome Carcinoma of colon Familial adenomatous polyposis 2 Condition: not provided B lymphoblastic leukemia lymphoma, no ICD-O subtype Gastric cancer Familial adenomatous polyposis 2	Criteria Provided Multiple Submitters No Conflicts	CA012325	rs_529008617	26 SubmittersRCV000131914 RCV000144633 RCV000191934 RCV000413961 RCV000722033 RCV002492514
NM_000038.6(APC):c.4349G>A (p.Arg1450Gln)	SNV Germline	Chr5:112839943	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009471	rs_587782678	7 SubmittersRCV000132104 RCV000590671 RCV002514750 RCV002265621 RCV003998132
NM_001048174.2(MUTYH):c.263G>A (p.Arg88Gln)	SNV Germline	Chr1:45333414	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Pilomatrixoma Familial adenomatous polyposis 2 Neoplasm of stomach Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA013393	rs_587782683	8 SubmittersRCV000132110 RCV000197990 RCV000515197 RCV000479477 RCV000780501
NM_001048174.2(MUTYH):c.842G>A (p.Arg281His)	SNV Germline	Chr1:45332173	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified	Criteria Provided Conflicting Classifications	CA014653	rs_587782727	5 SubmittersRCV000132221 RCV000640388 RCV005229971
NM_001048174.2(MUTYH):c.420+2T>C	SNV Germline	Chr1:45332916	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2	Criteria Provided Multiple Submitters No Conflicts	CA013687	rs_587782730	4 SubmittersRCV000132227 RCV000530394
NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp)	SNV Germline	Chr1:45333415	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Condition: not provided Carcinoma of colon	Criteria Provided Conflicting Classifications	CA013382	rs_373766973	9 SubmittersRCV000132238 RCV000195451 RCV000212698 RCV000656907 RCV001353576
NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr)	SNV Germline	Chr1:45340238	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 2 Condition: not provided Gastric cancer Familial adenomatous polyposis 2 MUTYH-related disorder	Criteria Provided Conflicting Classifications	CA011733	rs_587782837	11 SubmittersRCV000132425 RCV000212695 RCV000458224 RCV000656906 RCV002483273 RCV004739462
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)	SNV Germline	Chr1:45332440	Pathogenic	Carcinoma of colon Familial adenomatous polyposis 2 Condition: not provided Hereditary cancer-predisposing syndrome Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA014247	rs_587782885	16 SubmittersRCV000144630 RCV000500909 RCV000236829 RCV000132522 RCV003162593
NM_000038.6(APC):c.1139G>A (p.Arg380Gln)	SNV Germline	Chr5:112819171	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Condition: not provided APC-related disorder	Criteria Provided Conflicting Classifications	CA004061	rs_587782886	12 SubmittersRCV000132523 RCV000168435 RCV000722127 RCV000586652 RCV003891672
NM_000038.6(APC):c.3286C>T (p.Gln1096Ter)	SNV Germline	Chr5:112838880	Pathogenic	Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008233	rs_587783029	7 SubmittersRCV000144563 RCV000202095 RCV000563288
NM_000038.6(APC):c.1685C>T (p.Thr562Met)	SNV Germline	Chr5:112828914	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA005437	rs_587783034	9 SubmittersRCV000222854 RCV000485323 RCV000766534 RCV000144570 RCV003998159
NM_000038.6(APC):c.1744-2A>G	SNV Germline	Chr5:112834949	Pathogenic	Familial adenomatous polyposis 1 Carcinoma of colon Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA005882	rs_587783035	9 SubmittersRCV000144573 RCV000500538 RCV001012984 RCV002281962 RCV003321518
NM_000038.6(APC):c.7550A>G (p.Tyr2517Cys)	SNV Germline	Chr5:112843144	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary cancer Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA013809	rs_587783036	12 SubmittersRCV000144574 RCV000572226 RCV000759443 RCV003492634 RCV003998160 RCV004739467
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)	SNV Germline	Chr1:45331676	Pathogenic	Carcinoma of colon Familial adenomatous polyposis 2 Condition: not provided Hereditary cancer-predisposing syndrome Breast carcinoma Familial colorectal cancer Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA012199	rs_587783057	18 SubmittersRCV000144635 RCV000410310 RCV000413062 RCV000569738 RCV001572626 RCV002221498 RCV003162600
NM_000038.6(APC):c.2847G>T (p.Met949Ile)	SNV Germline	Chr5:112838441	Conflicting classifications of pathogenicity	Colorectal adenoma not specified Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided APC-related disorder	Criteria Provided Conflicting Classifications	CA007863	rs_147394539	12 SubmittersRCV000148363 RCV000159544 RCV000168133 RCV000567920 RCV001704072 RCV003917461
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser)	SNV Germline	Chr5:112843372	Conflicting classifications of pathogenicity	Colorectal adenoma Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided Colorectal cancer Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA014033	rs_367676584	10 SubmittersRCV000148361 RCV000215340 RCV000458485 RCV000483957 RCV001199001 RCV003998166
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu)	SNV Germline	Chr1:45332049	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided not specified Gastric cancer Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA014753	rs_558173961	11 SubmittersRCV000213585 RCV000552627 RCV000766300 RCV001844058 RCV005025249
NM_001048174.2(MUTYH):c.834C>G (p.Cys278Trp)	SNV Germline	Chr1:45332181	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA014594	rs_730881834	7 SubmittersRCV000160756 RCV000573806 RCV000474320
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)	SNV Germline	Chr1:45332242	Pathogenic/Likely pathogenic	Condition: not provided Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Gastric cancer Gastric cancer Familial adenomatous polyposis 2	Criteria Provided Multiple Submitters No Conflicts	CA014470	rs_730881833	15 SubmittersRCV000160754 RCV000191933 RCV000221854 RCV003162678 RCV004796056
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=)	SNV Germline	Chr1:45332286	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Condition: not provided MUTYH-related disorder	Criteria Provided Conflicting Classifications	CA014358	rs_730881838	11 SubmittersRCV000160762 RCV000206540 RCV000212708 RCV001091841 RCV004535047
NM_001048174.2(MUTYH):c.635C>T (p.Ala212Val)	SNV Germline	Chr1:45332460	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2 not specified	Criteria Provided Conflicting Classifications	CA014186	rs_369120013	8 SubmittersRCV000160753 RCV000656909 RCV000458598 RCV003987380
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)	SNV Germline	Chr1:45332794	Pathogenic	Condition: not provided Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome not specified MUTYH-related disorder Gastric cancer Familial adenomatous polyposis 2 Familial colorectal cancer type X	Criteria Provided Multiple Submitters No Conflicts	CA013795	rs_143353451	16 SubmittersRCV000160752 RCV000200700 RCV000214896 RCV000508179 RCV004535046 RCV002478487 RCV005359377
NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg)	SNV Germline	Chr1:45333168	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2 Familial adenomatous polyposis 2 Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA013507	rs_730881832	9 SubmittersRCV000160751 RCV000212700 RCV000701601 RCV005394560
NM_001128425.2(MUTYH):c.36+20C>A	SNV Germline	Chr1:45340199	Conflicting classifications of pathogenicity	Condition: not provided Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA013432	rs_540793556	4 SubmittersRCV000160750 RCV000412343 RCV000776104
NM_000038.6(APC):c.288T>A (p.Tyr96Ter)	SNV Germline	Chr5:112767256	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA007872	rs_376213437	8 SubmittersRCV000159585 RCV001016886 RCV003323417 RCV002515106
NM_000038.6(APC):c.296G>A (p.Arg99Gln)	SNV Germline	Chr5:112767264	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA007959	rs_199842850	11 SubmittersRCV000197478 RCV003998427 RCV000491566 RCV000585993
NM_000038.6(APC):c.423-1G>C	SNV Germline	Chr5:112775628	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA009194	rs_397514031	4 SubmittersRCV000202202 RCV002326915 RCV002516422
NM_000038.6(APC):c.450A>G (p.Lys150=)	SNV Germline	Chr5:112775656	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1 Condition: not provided APC-Associated Polyposis Disorders Carcinoma of colon Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009598	rs_116020626	18 SubmittersRCV000159527 RCV000211893 RCV000199795 RCV000759433 RCV001156933 RCV001353868 RCV003998400
NM_000038.6(APC):c.918T>G (p.Ser306Arg)	SNV Germline	Chr5:112815578	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Classic or attenuated familial adenomatous polyposis APC-related disorder Gardner syndrome APC-related attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA015653	rs_730881231	12 SubmittersRCV000159528 RCV000217691 RCV000466236 RCV000779736 RCV003998401 RCV004739486 RCV005359334
NM_000038.6(APC):c.1241G>A (p.Arg414His)	SNV Germline	Chr5:112819273	Conflicting classifications of pathogenicity	Condition: not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome not specified 6 conditions Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA004108	rs_730881233	13 SubmittersRCV000159530 RCV000227001 RCV000568544 RCV000779739 RCV002484993 RCV003998402 RCV004739487
NM_000038.6(APC):c.1291A>G (p.Met431Val)	SNV Germline	Chr5:112819323	Conflicting classifications of pathogenicity	not specified Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA004131	rs_730881235	9 SubmittersRCV000159532 RCV000230899 RCV000579996 RCV000656745 RCV003998404
NM_000038.6(APC):c.1391A>G (p.His464Arg)	SNV Germline	Chr5:112821974	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA004890	rs_730881236	6 SubmittersRCV000159533 RCV000217103 RCV000795734 RCV003998405
NM_000038.6(APC):c.1904G>C (p.Gly635Ala)	SNV Germline	Chr5:112835111	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Carcinoma of colon Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA006287	rs_730881239	8 SubmittersRCV000159537 RCV000491278 RCV000766428 RCV001353861 RCV003998407 RCV004562319
NM_000038.6(APC):c.1987C>T (p.Gln663Ter)	SNV Germline	Chr5:112837581	Pathogenic	Condition: not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007124	rs_730881240	6 SubmittersRCV000159538 RCV004562320 RCV003380497
NM_000038.6(APC):c.2461G>A (p.Val821Ile)	SNV Germline	Chr5:112838055	Conflicting classifications of pathogenicity	Condition: not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA007489	rs_138498551	9 SubmittersRCV000159539 RCV000205053 RCV000572390 RCV000779726 RCV003998408
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser)	SNV Germline	Chr5:112838839	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 not specified APC-related disorder 6 conditions	Criteria Provided Conflicting Classifications	CA008176	rs_730881244	14 SubmittersRCV000159547 RCV000211907 RCV000234536 RCV002307414 RCV004724944 RCV005031669
NM_000038.6(APC):c.3347G>A (p.Gly1116Asp)	SNV Germline	Chr5:112838941	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA008298	rs_730881224	6 SubmittersRCV000159511 RCV001020050 RCV004562314 RCV003998393
NM_000038.6(APC):c.3415A>C (p.Lys1139Gln)	SNV Germline	Chr5:112839009	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Carcinoma of colon Condition: not provided not specified Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA008372	rs_201550951	11 SubmittersRCV000159549 RCV000211910 RCV000586988 RCV001818351 RCV004562323 RCV003998412
NM_000038.6(APC):c.4073C>T (p.Ala1358Val)	SNV Germline	Chr5:112839667	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Colorectal cancer, susceptibility to Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA008903	rs_730881249	10 SubmittersRCV000159553 RCV000235095 RCV000210103 RCV000998414 RCV004562326
NM_000038.6(APC):c.4597A>G (p.Asn1533Asp)	SNV Germline	Chr5:112840191	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA009631	rs_730881226	6 SubmittersRCV000159513 RCV000583326 RCV003998395 RCV003474816
NM_000038.6(APC):c.6099C>G (p.Asp2033Glu)	SNV Germline	Chr5:112841693	Conflicting classifications of pathogenicity	Condition: not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA010908	rs_370532497	8 SubmittersRCV000159563 RCV000167931 RCV000491513 RCV003998416
NM_000038.6(APC):c.6173G>A (p.Gly2058Asp)	SNV Germline	Chr5:112841767	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA010991	rs_150140908	7 SubmittersRCV000218693 RCV000759438 RCV003998396 RCV002516404
NM_000038.6(APC):c.6526T>C (p.Leu2176=)	SNV Germline	Chr5:112842120	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided APC-Associated Polyposis Disorders Familial adenomatous polyposis 1 Carcinoma of colon	Criteria Provided Conflicting Classifications	CA012274	rs_183468041	18 SubmittersRCV000211925 RCV000159522 RCV000587270 RCV000282259 RCV004562317 RCV001356057
NM_000038.6(APC):c.6670A>G (p.Ile2224Val)	SNV Germline	Chr5:112842264	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1 6 conditions	Criteria Provided Conflicting Classifications	CA012361	rs_374597207	9 SubmittersRCV000159566 RCV000575448 RCV002265632 RCV003998418 RCV004562328 RCV005031670
NM_000038.6(APC):c.6694C>G (p.His2232Asp)	SNV Germline	Chr5:112842288	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Classic or attenuated familial adenomatous polyposis not specified	Criteria Provided Conflicting Classifications	CA012407	rs_730881256	11 SubmittersRCV000204441 RCV000216441 RCV000656749 RCV003998419 RCV004689632
NM_000038.6(APC):c.7174C>A (p.Pro2392Thr)	SNV Germline	Chr5:112842768	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Classic or attenuated familial adenomatous polyposis 6 conditions	Criteria Provided Conflicting Classifications	CA012891	rs_730881257	14 SubmittersRCV000159568 RCV000219951 RCV000409928 RCV001192797 RCV003998420 RCV005042307
NM_000038.6(APC):c.7264A>G (p.Thr2422Ala)	SNV Germline	Chr5:112842858	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA012961	rs_730881260	10 SubmittersRCV000159571 RCV000573375 RCV000590001 RCV002516417 RCV003998421
NM_000038.6(APC):c.7588C>T (p.Arg2530Trp)	SNV Germline	Chr5:112843182	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA013892	rs_730881265	8 SubmittersRCV000159576 RCV000211935 RCV000656751 RCV003998423 RCV002516419
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu)	SNV Germline	Chr5:112843701	Conflicting classifications of pathogenicity	Condition: not provided Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders Hereditary cancer-predisposing syndrome not specified Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA014335	rs_730881270	12 SubmittersRCV000159581 RCV000525703 RCV000322812 RCV000575937 RCV002307415 RCV003998426 RCV004739489
NM_001048174.2(MUTYH):c.1538C>T (p.Ala513Val)	SNV Germline	Chr1:45329334	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA013181	rs_751053826	7 SubmittersRCV000164546 RCV000474274 RCV000589735
NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys)	SNV Germline	Chr1:45329389	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome not specified MUTYH-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA013050	rs_147480076	11 SubmittersRCV000229869 RCV000165016 RCV001175587 RCV004528913 RCV000679426
NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=)	SNV Germline	Chr1:45329408	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 2 Condition: not provided MUTYH-related disorder	Criteria Provided Conflicting Classifications	CA012995	rs_143796254	14 SubmittersRCV000163840 RCV000427252 RCV001084408 RCV000586077 RCV004539538
NM_001048174.2(MUTYH):c.1392+2C>T	SNV Germline	Chr1:45331180	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Condition: not provided MUTYH-related disorder	Criteria Provided Conflicting Classifications	CA012892	rs_140288388	16 SubmittersRCV000166725 RCV000470920 RCV000506630 RCV001358548 RCV004739539
NM_001048174.2(MUTYH):c.1258C>G (p.His420Asp)	SNV Germline	Chr1:45331316	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA012643	rs_786202133	4 SubmittersRCV000164793 RCV000659899
NM_001048174.2(MUTYH):c.1167C>T (p.Arg389=)	SNV Germline	Chr1:45331492	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Familial adenomatous polyposis 2 Gastric cancer	Criteria Provided Conflicting Classifications	CA012415	rs_786202141	4 SubmittersRCV000164805 RCV000226921 RCV005396478
NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=)	SNV Germline	Chr1:45331552	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided not specified Familial adenomatous polyposis 2 Gastric cancer	Criteria Provided Conflicting Classifications	CA012294	rs_201412035	10 SubmittersRCV000163226 RCV000205649 RCV001706072 RCV005406861 RCV005394577
NM_001048174.2(MUTYH):c.1103-5C>A	SNV Germline	Chr1:45331561	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA012257	rs_786202228	2 SubmittersRCV000164944 RCV002517618
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)	SNV Germline	Chr1:45331809	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial colorectal cancer type X Familial adenomatous polyposis 2 Familial adenomatous polyposis 2 Gastric cancer	Criteria Provided Conflicting Classifications	CA012034	rs_372673338	15 SubmittersRCV000165812 RCV000255834 RCV000584863 RCV005359515 RCV000459930 RCV005025262
NM_001048174.2(MUTYH):c.953C>G (p.Ser318Trp)	SNV Germline	Chr1:45331810	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2 Gastric cancer not specified	Criteria Provided Conflicting Classifications	CA012006	rs_587778538	13 SubmittersRCV000203957 RCV000165499 RCV000759877 RCV002492662 RCV005055659
NM_001048174.2(MUTYH):c.914-5C>G	SNV Germline	Chr1:45331854	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA014790	rs_786203632	3 SubmittersRCV000167028 RCV000465569
NM_001048174.2(MUTYH):c.901G>T (p.Val301Leu)	SNV Germline	Chr1:45332035	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA014781	rs_147718169	5 SubmittersRCV000164277 RCV000604526 RCV003318556 RCV000541072
NM_001048174.2(MUTYH):c.835C>T (p.Arg279Trp)	SNV Germline	Chr1:45332180	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA014609	rs_759822330	9 SubmittersRCV000165997 RCV000640360 RCV003320586 RCV003441765
NM_001048174.2(MUTYH):c.802C>T (p.Leu268=)	SNV Germline	Chr1:45332213	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA014567	rs_778782508	10 SubmittersRCV000198018 RCV000163056 RCV000679431 RCV003493468
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)	SNV Germline	Chr1:45332215	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2 Carcinoma of colon Breast carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA014557	rs_374950566	25 SubmittersRCV000164625 RCV000235921 RCV000456980 RCV001353603 RCV001554252
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter)	SNV Germline	Chr1:45332300	Pathogenic/Likely pathogenic	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Condition: not provided Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA014333	rs_786203115	10 SubmittersRCV000198325 RCV000166279 RCV003223616 RCV003162709
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)	SNV Germline	Chr1:45332458	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Gastric cancer Familial adenomatous polyposis 2	Criteria Provided Multiple Submitters No Conflicts	CA014196	rs_34126013	18 SubmittersRCV000235834 RCV000164664 RCV005025256 RCV000369240
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=)	SNV Germline	Chr1:45332483	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA014134	rs_780747266	12 SubmittersRCV000163819 RCV000411321 RCV000506665 RCV000757498
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met)	SNV Germline	Chr1:45332621	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA014022	rs_776487884	9 SubmittersRCV000164298 RCV000502295 RCV001358407
NM_001048174.2(MUTYH):c.493-5A>G	SNV Germline	Chr1:45332692	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA013917	rs_758377868	11 SubmittersRCV000162459 RCV000180208 RCV000411665
NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu)	SNV Germline	Chr1:45332794	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA013808	rs_143353451	8 SubmittersRCV000164867 RCV000799235 RCV001770127 RCV003320581
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)	SNV Germline	Chr1:45332795	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Ovarian cancer Condition: not provided Pilomatrixoma	Criteria Provided Multiple Submitters No Conflicts	CA013785	rs_747993448	18 SubmittersRCV000166998 RCV000229525 RCV003153454 RCV000236750 RCV002272151
NM_001048174.2(MUTYH):c.421-2A>C	SNV Germline	Chr1:45332836	Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA013693	rs_786203161	7 SubmittersRCV000166350 RCV000694454 RCV003231350
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)	SNV Germline	Chr1:45332952	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA013620	rs_777184451	9 SubmittersRCV000165108 RCV000226581 RCV001355674
NM_001048174.2(MUTYH):c.378+3G>A	SNV Germline	Chr1:45333094	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA013611	rs_373939052	4 SubmittersRCV000165102 RCV000235270 RCV001850310
NM_001048174.2(MUTYH):c.356A>G (p.Asn119Ser)	SNV Germline	Chr1:45333119	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided Gastric cancer Familial adenomatous polyposis 2 not specified	Criteria Provided Conflicting Classifications	CA013572	rs_771641237	9 SubmittersRCV000165758 RCV000228615 RCV000985860 RCV002485025 RCV003235085
NM_001048174.2(MUTYH):c.325C>T (p.Leu109=)	SNV Germline	Chr1:45333150	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Condition: not provided MUTYH-related disorder	Criteria Provided Conflicting Classifications	CA013540	rs_368963039	8 SubmittersRCV000163347 RCV000233728 RCV000609907 RCV001711327 RCV004535071
NM_001048174.2(MUTYH):c.305-1G>A	SNV Germline	Chr1:45333171	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA013479	rs_372267274	10 SubmittersRCV000166470 RCV000469315 RCV001358068
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)	SNV Germline	Chr1:45333436	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided Carcinoma of colon Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA013370	rs_765123255	14 SubmittersRCV000162761 RCV000230772 RCV000442590 RCV001353971 RCV003162684
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)	SNV Germline	Chr1:45333452	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2 Gastric cancer Familial adenomatous polyposis 2	Criteria Provided Multiple Submitters No Conflicts	CA013324	rs_748170941	14 SubmittersRCV000164326 RCV000523882 RCV000196257 RCV005025253
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)	SNV Germline	Chr1:45333471	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Carcinoma of colon Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA013305	rs_755653922	12 SubmittersRCV000164952 RCV000555612 RCV000612945 RCV001354534 RCV003151751 RCV003153444
NM_001048174.2(MUTYH):c.165A>T (p.Ser55=)	SNV Germline	Chr1:45333512	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA013261	rs_786203971	4 SubmittersRCV000167506 RCV000640408 RCV001753575
NM_001128425.2(MUTYH):c.192C>T (p.Ala64=)	SNV Germline	Chr1:45333569	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA011725	rs_760321509	7 SubmittersRCV000466932 RCV000166419 RCV002307426 RCV004589791
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=)	SNV Germline	Chr1:45334419	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Condition: not provided MUTYH-related disorder	Criteria Provided Conflicting Classifications	CA012520	rs_141679570	12 SubmittersRCV000162631 RCV000227327 RCV000504500 RCV000759159 RCV004544479
NM_001048174.2(MUTYH):c.84C>A (p.Asn28Lys)	SNV Germline	Chr1:45334422	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA012471	rs_200514222	4 SubmittersRCV000167094 RCV001850360
NM_001128425.2(MUTYH):c.13G>C (p.Val5Leu)	SNV Germline	Chr1:45340242	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA012678	rs_786201933	2 SubmittersRCV000164470 RCV001850298
NM_000038.6(APC):c.60C>T (p.Asn20=)	SNV Germline	Chr5:112754950	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis not specified	Criteria Provided Conflicting Classifications	CA010920	rs_780155240	8 SubmittersRCV000166303 RCV001697159 RCV004019982 RCV003995499 RCV001844061
NM_000038.6(APC):c.181G>A (p.Ala61Thr)	SNV Germline	Chr5:112766371	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA006037	rs_786201989	5 SubmittersRCV000164557 RCV003995350 RCV004567246 RCV001697165
NM_000038.6(APC):c.221-2A>G	SNV Germline	Chr5:112767187	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1 Familial multiple polyposis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007277	rs_786201291	7 SubmittersRCV000163246 RCV000480238 RCV003995243 RCV004562337 RCV004700500
NM_000038.6(APC):c.669A>C (p.Gln223His)	SNV Germline	Chr5:112792469	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA012417	rs_769482880	10 SubmittersRCV000163884 RCV000411931 RCV001358755 RCV003126560 RCV003995293
NM_000038.6(APC):c.730-3C>T	SNV Germline	Chr5:112801276	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA013579	rs_786203125	7 SubmittersRCV000166294 RCV000412218 RCV000588450
NM_000038.6(APC):c.759C>G (p.Gly253=)	SNV Germline	Chr5:112801308	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 APC-related disorder	Criteria Provided Conflicting Classifications	CA013925	rs_746850663	9 SubmittersRCV000165035 RCV002281064 RCV004562355 RCV003965208
NM_000038.6(APC):c.835-3T>C	SNV Germline	Chr5:112815492	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA015171	rs_372090940	10 SubmittersRCV000164509 RCV000409101 RCV000432869 RCV001729422
NM_000038.6(APC):c.847C>T (p.Arg283Ter)	SNV Germline/somatic	Chr5:112815507	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome Desmoid disease, hereditary Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach Carcinoma of colon 6 conditions Carcinoma of colon Familial adenomatous polyposis 1 Colorectal cancer	Reviewed By Expert Panel	CA015543	rs_786201856	15 SubmittersRCV000202113 RCV000164351 RCV000501350 RCV000763538 RCV005031679 RCV001353622 RCV002517615 RCV004813067
NM_000038.6(APC):c.994C>T (p.Arg332Ter)	SNV Germline	Chr5:112819026	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial multiple polyposis syndrome Familial adenomatous polyposis 1 6 conditions Inherited polyposis and early onset colorectal cancer - germline testing	Criteria Provided Multiple Submitters No Conflicts	CA016038	rs_775126020	15 SubmittersRCV000164280 RCV000202243 RCV000503333 RCV000460182 RCV002498813 RCV004692773
NM_000038.6(APC):c.1121G>A (p.Arg374Gln)	SNV Germline	Chr5:112819153	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Carcinoma of colon Familial multiple polyposis syndrome Classic or attenuated familial adenomatous polyposis 6 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA004057	rs_141582813	13 SubmittersRCV000544500 RCV000164563 RCV001353563 RCV000239027 RCV003995351 RCV005031681 RCV002478503
NM_000038.6(APC):c.1331A>G (p.His444Arg)	SNV Germline	Chr5:112821914	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis Condition: not provided	Criteria Provided Conflicting Classifications	CA004248	rs_371065509	4 SubmittersRCV000165915 RCV004562362 RCV004804755 RCV005621895
NM_000038.6(APC):c.1722A>G (p.Glu574=)	SNV Germline	Chr5:112828951	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders not specified Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA005478	rs_786201277	7 SubmittersRCV000163224 RCV000317916 RCV000421864 RCV002515127 RCV003995240
NM_000038.6(APC):c.2110G>A (p.Val704Ile)	SNV Germline	Chr5:112837704	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Condition: not provided APC-Associated Polyposis Disorders Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA007204	rs_367804502	12 SubmittersRCV000164801 RCV000198244 RCV000236550 RCV000657054 RCV001155352 RCV003995365
NM_000038.6(APC):c.2205G>A (p.Ala735=)	SNV Germline	Chr5:112837799	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Condition: not provided Carcinoma of colon APC-Associated Polyposis Disorders	Criteria Provided Conflicting Classifications	CA007267	rs_141001261	12 SubmittersRCV000162793 RCV000199939 RCV000429527 RCV000587002 RCV001353912 RCV001155353
NM_000038.6(APC):c.2222A>G (p.Asn741Ser)	SNV Germline	Chr5:112837816	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided not specified Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA007300	rs_150209825	12 SubmittersRCV000163857 RCV000197204 RCV000236573 RCV001193496 RCV003995289 RCV004739513
NM_000038.6(APC):c.2232T>G (p.Ser744=)	SNV Germline	Chr5:112837826	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1 Condition: not provided APC-related disorder	Criteria Provided Conflicting Classifications	CA007308	rs_145751759	13 SubmittersRCV000163199 RCV000439758 RCV000462393 RCV000590422 RCV003917561
NM_000038.6(APC):c.2483C>T (p.Thr828Ile)	SNV Germline	Chr5:112838077	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA007517	rs_786203696	10 SubmittersRCV000167114 RCV000410146 RCV000985291 RCV001420829 RCV003995561
NM_000038.6(APC):c.2805C>G (p.Tyr935Ter)	SNV Germline	Chr5:112838399	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial multiple polyposis syndrome Familial adenomatous polyposis 1 Gastric adenocarcinoma and proximal polyposis of the stomach	Criteria Provided Multiple Submitters No Conflicts	CA007811	rs_137854575	7 SubmittersRCV000165582 RCV000202153 RCV000500049 RCV004562359 RCV003137694
NM_000038.6(APC):c.2971G>T (p.Glu991Ter)	SNV Germline	Chr5:112838565	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA007967	rs_786202995	2 SubmittersRCV000166096 RCV003454411
NM_000038.6(APC):c.3653C>T (p.Thr1218Met)	SNV Germline	Chr5:112839247	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders Condition: not provided Classic or attenuated familial adenomatous polyposis not specified APC-related disorder	Criteria Provided Conflicting Classifications	CA008612	rs_377640390	12 SubmittersRCV000167240 RCV000233583 RCV001154641 RCV000483908 RCV003995576 RCV001553558 RCV004739543
NM_000038.6(APC):c.3909A>G (p.Gln1303=)	SNV Germline	Chr5:112839503	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Condition: not provided APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA008747	rs_746289994	10 SubmittersRCV000163132 RCV000409994 RCV000607365 RCV003477585 RCV003945263 RCV003995236
NM_000038.6(APC):c.3910A>G (p.Ile1304Val)	SNV Germline	Chr5:112839504	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA008754	rs_770157475	5 SubmittersRCV000165668 RCV000689521 RCV003995444
NM_000038.6(APC):c.4334C>T (p.Thr1445Ile)	SNV Germline	Chr5:112839928	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009453	rs_760686348	9 SubmittersRCV000165845 RCV000409886 RCV003320584 RCV003477621 RCV003995457
NM_000038.6(APC):c.4424C>T (p.Ala1475Val)	SNV Germline	Chr5:112840018	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to not specified Condition: not provided Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA009538	rs_375380414	9 SubmittersRCV000165744 RCV000210169 RCV000607446 RCV000985303 RCV003995448 RCV002516489
NM_000038.6(APC):c.4534G>A (p.Asp1512Asn)	SNV Germline	Chr5:112840128	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided APC-Associated Polyposis Disorders Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009616	rs_778699501	8 SubmittersRCV000166273 RCV000236286 RCV001704215 RCV001155477 RCV003765040 RCV003995494
NM_000038.6(APC):c.4621C>T (p.Gln1541Ter)	SNV Germline	Chr5:112840215	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA009662	rs_786201801	3 SubmittersRCV000164276 RCV003335155
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu)	SNV Germline	Chr5:112840699	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided Desmoid disease, hereditary Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach Carcinoma of colon Classic or attenuated familial adenomatous polyposis not specified	Criteria Provided Conflicting Classifications	CA009865	rs_769273526	11 SubmittersRCV000163348 RCV000231340 RCV000758732 RCV000764565 RCV003995246 RCV002267901
NM_000038.6(APC):c.5216A>G (p.Lys1739Arg)	SNV Germline	Chr5:112840810	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Condition: not provided Classic or attenuated familial adenomatous polyposis 6 conditions	Criteria Provided Conflicting Classifications	CA009933	rs_769558291	12 SubmittersRCV000163875 RCV000205541 RCV000589784 RCV003233477 RCV003995292 RCV005042326
NM_000038.6(APC):c.5608G>A (p.Asp1870Asn)	SNV Germline	Chr5:112841202	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA010538	rs_769579396	3 SubmittersRCV000167355 RCV003765047 RCV003995587
NM_000038.6(APC):c.5839A>G (p.Thr1947Ala)	SNV Germline	Chr5:112841433	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided not specified 6 conditions Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA010734	rs_746346292	12 SubmittersRCV000164466 RCV000206414 RCV000483817 RCV000779706 RCV005031680 RCV003995344
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys)	SNV Germline	Chr5:112841506	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Colorectal cancer Condition: not provided Carcinoma of colon Classic or attenuated familial adenomatous polyposis APC-related disorder Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA010787	rs_754691867	14 SubmittersRCV000167000 RCV000455669 RCV000677738 RCV002260627 RCV001358361 RCV003995547 RCV003975238 RCV004562375
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe)	SNV Germline	Chr5:112841711	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1 Condition: not provided Carcinoma of colon APC-related disorder 6 conditions Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA010933	rs_372418435	14 SubmittersRCV000163274 RCV000236184 RCV000232978 RCV000656748 RCV001353588 RCV004739510 RCV005042323 RCV004806124
NM_000038.6(APC):c.6136G>A (p.Ala2046Thr)	SNV Germline	Chr5:112841730	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA010972	rs_770406711	11 SubmittersRCV000164449 RCV000411350 RCV000759436 RCV004739520 RCV003995342
NM_000038.6(APC):c.6446A>C (p.His2149Pro)	SNV Germline	Chr5:112842040	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA011185	rs_749230730	12 SubmittersRCV000164369 RCV000545398 RCV000236978 RCV000679080 RCV003995337
NM_000038.6(APC):c.6709C>T (p.Arg2237Ter)	SNV Germline/somatic	Chr5:112842303	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Familial multiple polyposis syndrome Classic or attenuated familial adenomatous polyposis Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA012440	rs_768922431	10 SubmittersRCV000167356 RCV000237046 RCV002515179 RCV004017447 RCV004806149 RCV004668828
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro)	SNV Germline	Chr5:112842996	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis not specified Condition: not provided APC-related disorder	Criteria Provided Conflicting Classifications	CA013665	rs_375586273	15 SubmittersRCV000163734 RCV000234737 RCV003995277 RCV000779738 RCV001310857 RCV003398835
NM_000038.6(APC):c.7472T>C (p.Met2491Thr)	SNV Germline	Chr5:112843066	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA013705	rs_369075403	12 SubmittersRCV000164068 RCV000226252 RCV000590327 RCV003995309
NM_000038.6(APC):c.7531C>T (p.Leu2511Phe)	SNV Germline	Chr5:112843125	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided 6 conditions Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA013771	rs_72541815	10 SubmittersRCV000166364 RCV000473143 RCV000482783 RCV002478515 RCV003995502
NM_000038.6(APC):c.7574G>A (p.Arg2525His)	SNV Germline	Chr5:112843168	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided not specified Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA013862	rs_762034315	12 SubmittersRCV000164075 RCV000226636 RCV000483633 RCV001582644 RCV003995310 RCV003937504
NM_000038.6(APC):c.7929A>G (p.Leu2643=)	SNV Germline	Chr5:112843523	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders Classic or attenuated familial adenomatous polyposis not specified	Criteria Provided Conflicting Classifications	CA014191	rs_138796072	16 SubmittersRCV000230717 RCV000858816 RCV000164877 RCV001155674 RCV003995372 RCV000441754
NM_000038.6(APC):c.7986G>A (p.Glu2662=)	SNV Germline	Chr5:112843580	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1 APC-related disorder Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA014222	rs_571645304	13 SubmittersRCV000163688 RCV000779708 RCV000234782 RCV003937493 RCV001354670 RCV003995271
NM_000038.6(APC):c.8100T>C (p.Asn2700=)	SNV Germline	Chr5:112843694	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders not specified Classic or attenuated familial adenomatous polyposis Condition: not provided	Criteria Provided Conflicting Classifications	CA014315	rs_761326128	11 SubmittersRCV000163313 RCV000205888 RCV000260617 RCV000602636 RCV003995245 RCV005256571
NM_000038.6(APC):c.8429A>G (p.Asn2810Ser)	SNV Germline	Chr5:112844023	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA015484	rs_758044862	9 SubmittersRCV000165965 RCV000228193 RCV000236023 RCV003995468
NM_001048174.2(MUTYH):c.1486A>G (p.Met496Val)	SNV Germline	Chr1:45329386	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA013059	rs_587780080	6 SubmittersRCV000167910 RCV000571963 RCV001560234 RCV003320589
NM_000038.6(APC):c.647G>A (p.Arg216Gln)	SNV Germline	Chr5:112792447	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Condition: not provided APC-Associated Polyposis Disorders Hereditary cancer-predisposing syndrome Hereditary cancer not specified	Criteria Provided Conflicting Classifications	CA012234	rs_76685252	11 SubmittersRCV000168256 RCV000480784 RCV000364207 RCV000563625 RCV003491922 RCV003987392
NM_000038.6(APC):c.925G>T (p.Gly309Ter)	SNV Germline	Chr5:112815585	Pathogenic	Familial adenomatous polyposis 1	Criteria Provided Single Submitter	CA015663	rs_786204118	1 SubmittersRCV000168066
NM_000038.6(APC):c.1262G>A (p.Trp421Ter)	SNV Germline	Chr5:112819294	Pathogenic	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA004112	rs_559510809	4 SubmittersRCV000168200 RCV002444673 RCV004998363
NM_000038.6(APC):c.2240C>T (p.Ser747Leu)	SNV Germline	Chr5:112837834	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA007315	rs_773020689	9 SubmittersRCV000484713 RCV000218100 RCV002291585 RCV003995610 RCV005361047
NM_000038.6(APC):c.2534G>A (p.Arg845His)	SNV Germline	Chr5:112838128	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA007574	rs_776878597	9 SubmittersRCV000168139 RCV000485635 RCV000569311 RCV003995609
NM_000038.6(APC):c.3314G>A (p.Arg1105Gln)	SNV Germline	Chr5:112838908	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA008260	rs_548176472	6 SubmittersRCV000567203 RCV000998412 RCV003995627 RCV004562386
NM_000038.6(APC):c.3830T>G (p.Leu1277Ter)	SNV Germline	Chr5:112839424	Pathogenic	Familial adenomatous polyposis 1	Criteria Provided Single Submitter	CA008704	rs_786204169	1 SubmittersRCV004567362
NM_000038.6(APC):c.4175C>A (p.Ser1392Ter)	SNV Germline	Chr5:112839769	Pathogenic	Familial adenomatous polyposis 1	Criteria Provided Single Submitter	CA008927	rs_786204170	1 SubmittersRCV000168194
NM_000038.6(APC):c.4765C>T (p.Arg1589Cys)	SNV Germline	Chr5:112840359	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009735	rs_72541813	9 SubmittersRCV000565123 RCV000508130 RCV001589045 RCV004567358 RCV003995599
NM_000038.6(APC):c.5213A>C (p.His1738Pro)	SNV Germline	Chr5:112840807	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA009926	rs_149882057	4 SubmittersRCV001182080 RCV004804779 RCV003765049
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe)	SNV Germline	Chr5:112842787	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Condition: not provided not specified Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA012909	rs_150882838	13 SubmittersRCV000168076 RCV000657134 RCV000486411 RCV000491288 RCV003995605
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter)	SNV Germline/somatic	Chr5:112839942	Pathogenic	Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome Neoplasm APC-Associated Polyposis Disorders	Criteria Provided Multiple Submitters No Conflicts	CA009465	rs_121913332	11 SubmittersRCV000174977 RCV000486553 RCV000494198 RCV000659277 RCV004668832 RCV001824661
NM_001048174.2(MUTYH):c.1390A>T (p.Lys464Ter)	SNV Germline	Chr1:45331184	Pathogenic/Likely pathogenic	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA338021	rs_863224502	3 SubmittersRCV000198593 RCV001184572
NM_001048174.2(MUTYH):c.1171G>C (p.Ala391Pro)	SNV Germline	Chr1:45331488	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2 Gastric cancer	Criteria Provided Conflicting Classifications	CA339462	rs_587780744	5 SubmittersRCV000200655 RCV000220875 RCV001574187 RCV005396615
NM_001048174.2(MUTYH):c.852G>A (p.Val284=)	SNV Germline	Chr1:45332084	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome MUTYH-related disorder Familial adenomatous polyposis 2 Gastric cancer	Criteria Provided Conflicting Classifications	CA059733	rs_751875215	7 SubmittersRCV000199615 RCV000217274 RCV004530193 RCV005396616
NM_001048174.2(MUTYH):c.420+2T>G	SNV Germline	Chr1:45332916	Likely pathogenic	Familial adenomatous polyposis 2	Criteria Provided Single Submitter	CA336154	rs_587782730	1 SubmittersRCV000196093
NM_001048174.2(MUTYH):c.305-2A>G	SNV Germline	Chr1:45333172	Pathogenic/Likely pathogenic	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA337713	rs_863224452	3 SubmittersRCV000198184 RCV002354561
NM_001048174.2(MUTYH):c.305-7C>A	SNV Germline	Chr1:45333177	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Condition: not provided Hereditary cancer-predisposing syndrome MUTYH-related disorder	Criteria Provided Conflicting Classifications	CA335792	rs_863224698	8 SubmittersRCV000195589 RCV000235223 RCV000580780 RCV004530192
NM_001128425.2(MUTYH):c.37G>A (p.Ala13Thr)	SNV Germline	Chr1:45334511	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Carcinoma of colon Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA338910	rs_375349172	7 SubmittersRCV000199845 RCV000502616 RCV000216921 RCV001589079
NM_000038.6(APC):c.309A>G (p.Val103=)	SNV Germline	Chr5:112767277	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA336102	rs_863224279	5 SubmittersRCV001018605 RCV003765264 RCV003477651 RCV003996940
NM_000038.6(APC):c.423G>T (p.Arg141Ser)	SNV Germline	Chr5:112775629	Pathogenic	Familial adenomatous polyposis 1 Carcinoma of colon Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA338613	rs_863224458	5 SubmittersRCV000199388 RCV000501209 RCV001270008
NM_000038.6(APC):c.1072C>T (p.Gln358Ter)	SNV Germline	Chr5:112819104	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA337910	rs_863224455	3 SubmittersRCV000775125 RCV003337243
NM_000038.6(APC):c.1114A>G (p.Asn372Asp)	SNV Germline	Chr5:112819146	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA026723	rs_201478136	5 SubmittersRCV000581511 RCV004562406 RCV002469059
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)	SNV Germline	Chr5:112827986	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary Carcinoma of colon Hereditary cancer	Criteria Provided Conflicting Classifications	CA028603	rs_138098808	11 SubmittersRCV000199835 RCV000217491 RCV000235744 RCV000656746 RCV000764561 RCV005235100
NM_000038.6(APC):c.2090C>T (p.Ala697Val)	SNV Germline	Chr5:112837684	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 not specified Hereditary cancer-predisposing syndrome Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA030702	rs_761733547	13 SubmittersRCV000200684 RCV000484738 RCV000575021 RCV000657015 RCV003996966
NM_000038.6(APC):c.2444A>C (p.Asn815Thr)	SNV Germline	Chr5:112838038	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA032096	rs_762990578	11 SubmittersRCV000197360 RCV000493690 RCV000563002 RCV001155356 RCV001192829 RCV003996969
NM_000038.6(APC):c.2626C>T (p.Arg876Ter)	SNV Germline/somatic	Chr5:112838220	Pathogenic	Hereditary cancer-predisposing syndrome Carcinoma of colon not specified Condition: not provided Familial adenomatous polyposis 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA338207	rs_121913333	17 SubmittersRCV000492041 RCV000500904 RCV001000185 RCV000236362 RCV002288811 RCV004668843
NM_000038.6(APC):c.3299C>T (p.Ser1100Phe)	SNV Germline	Chr5:112838893	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome not specified Classic or attenuated familial adenomatous polyposis Gastric adenocarcinoma and proximal polyposis of the stomach Attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA335915	rs_863224541	9 SubmittersRCV000195761 RCV000235272 RCV000574827 RCV001264460 RCV003996971 RCV005429006
NM_000038.6(APC):c.3436C>T (p.Arg1146Cys)	SNV Germline	Chr5:112839030	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA035367	rs_202168805	10 SubmittersRCV000236811 RCV000491194 RCV001553560 RCV004562408 RCV003996973
NM_000038.6(APC):c.4395T>A (p.Ser1465Arg)	SNV Germline	Chr5:112839989	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 not specified Hereditary cancer-predisposing syndrome Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA038949	rs_779898882	12 SubmittersRCV000198718 RCV000236990 RCV000446409 RCV000766728 RCV003996975
NM_000038.6(APC):c.5304G>A (p.Lys1768=)	SNV Germline	Chr5:112840898	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA339368	rs_863224285	10 SubmittersRCV000570509 RCV000608378 RCV001357058 RCV004562403 RCV003996942
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly)	SNV Germline	Chr5:112843611	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided 6 conditions Familial adenomatous polyposis 1 Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA049665	rs_767286063	9 SubmittersRCV000202229 RCV000572076 RCV000766698 RCV002500621 RCV002515464 RCV005361140
NM_000038.6(APC):c.8213T>C (p.Ile2738Thr)	SNV Germline	Chr5:112843807	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA336116	rs_863224552	7 SubmittersRCV000196029 RCV000564610 RCV000780867 RCV003996981
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)	SNV Germline	Chr5:112844056	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach not specified Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA050869	rs_780049836	11 SubmittersRCV000196318 RCV000478701 RCV000567493 RCV000765792 RCV000779724 RCV003996983 RCV004725054
NM_000038.6(APC):c.95A>G (p.Asn32Ser)	SNV Germline	Chr5:112754985	Conflicting classifications of pathogenicity	not specified Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Neoplasm of stomach Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA051346	rs_539108537	15 SubmittersRCV000202147 RCV000204603 RCV000569857 RCV000656743 RCV000677775 RCV003997044
NM_000038.6(APC):c.221-1G>A	SNV Germline	Chr5:112767188	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279668	rs_863225327	4 SubmittersRCV000201979 RCV000491712 RCV004562414
NM_000038.6(APC):c.288T>G (p.Tyr96Ter)	SNV Germline	Chr5:112767256	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Familial multiple polyposis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA248534	rs_376213437	5 SubmittersRCV000202141 RCV000491545 RCV002517324 RCV003387803
NM_000038.6(APC):c.301G>T (p.Gly101Ter)	SNV Germline	Chr5:112767269	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279710	rs_863225335	5 SubmittersRCV000202070 RCV000570097 RCV002517325
NM_000038.6(APC):c.487C>T (p.Gln163Ter)	SNV Germline	Chr5:112775693	Pathogenic	Condition: not provided Familial multiple polyposis syndrome Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279721	rs_863225362	8 SubmittersRCV000202083 RCV000500940 RCV001023190 RCV002517332
NM_000038.6(APC):c.531+2T>A	SNV Germline	Chr5:112775739	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279737	rs_863225365	5 SubmittersRCV000202121 RCV000491613 RCV001193574 RCV002519591
NM_000038.6(APC):c.531+2T>C	SNV Germline	Chr5:112775739	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279807	rs_863225365	4 SubmittersRCV000202262 RCV000563395 RCV004563120
NM_000038.6(APC):c.541C>T (p.Gln181Ter)	SNV Germline	Chr5:112780799	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279657	rs_863225366	4 SubmittersRCV000201966 RCV002345721 RCV004563121
NM_000038.6(APC):c.645+1G>A	SNV Germline	Chr5:112780904	Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Reviewed By Expert Panel	CA279701	rs_863225370	7 SubmittersRCV000202059 RCV001025281 RCV002517337
NM_000038.6(APC):c.1045C>T (p.Gln349Ter)	SNV Germline	Chr5:112819077	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279782	rs_863225307	3 SubmittersRCV000202206 RCV002399752 RCV004567443
NM_000038.6(APC):c.1297C>T (p.Gln433Ter)	SNV Germline	Chr5:112819329	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279741	rs_863225309	4 SubmittersRCV000202128 RCV002381694 RCV002517319
NM_000038.6(APC):c.1312+1G>A	SNV Germline	Chr5:112819345	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Carcinoma of colon Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279677	rs_863225310	6 SubmittersRCV000202015 RCV000493121 RCV001354196 RCV002517320
NM_000038.6(APC):c.1312+3A>G	SNV Germline	Chr5:112819347	Pathogenic	Condition: not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Carcinoma of colon Carcinoma of colon Desmoid disease, hereditary Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach APC-related disorder Familial multiple polyposis syndrome Classic or attenuated familial adenomatous polyposis	Reviewed By Expert Panel	CA279764	rs_863225311	17 SubmittersRCV000202161 RCV000204247 RCV000490831 RCV000500343 RCV000763540 RCV003422107 RCV003987449 RCV003997041
NM_000038.6(APC):c.1409-1G>T	SNV Germline	Chr5:112827107	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279831	rs_863225313	5 SubmittersRCV000202308 RCV000570454 RCV002519584
NM_000038.6(APC):c.1433T>G (p.Leu478Ter)	SNV Germline	Chr5:112827132	Pathogenic	Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279696	rs_863225314	3 SubmittersRCV000202053 RCV003337245
NM_000038.6(APC):c.1500T>A (p.Tyr500Ter)	SNV Germline	Chr5:112827199	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA248569	rs_387906230	5 SubmittersRCV000202292 RCV001175690 RCV002517321
NM_000038.6(APC):c.1549-1G>A	SNV Germline	Chr5:112827928	Likely pathogenic	Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279777	rs_863225316	3 SubmittersRCV000202184 RCV004562412
NM_000038.6(APC):c.1658G>A (p.Trp553Ter)	SNV Germline	Chr5:112828887	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279734	rs_863225318	7 SubmittersRCV000202102 RCV000572094 RCV003229818
NM_000038.6(APC):c.1959-1G>A	SNV Germline	Chr5:112837552	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279751	rs_863225321	4 SubmittersRCV000202143 RCV002415860 RCV002519586
NM_000038.6(APC):c.3147G>A (p.Trp1049Ter)	SNV Germline	Chr5:112838741	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279705	rs_863225340	5 SubmittersRCV000202067 RCV000218609 RCV004562421
NM_000038.6(APC):c.3688C>T (p.Gln1230Ter)	SNV Germline	Chr5:112839282	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279680	rs_863225344	5 SubmittersRCV000202019 RCV000493802 RCV004562425
NM_000038.6(APC):c.3810T>A (p.Cys1270Ter)	SNV Germline	Chr5:112839404	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome Familial adenomatous polyposis 1 APC-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA279753	rs_863225347	9 SubmittersRCV000202149 RCV000490989 RCV002298521 RCV004562426 RCV003982949
NM_000038.6(APC):c.3815C>G (p.Ser1272Ter)	SNV Germline	Chr5:112839409	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279822	rs_863225348	6 SubmittersRCV000202286 RCV000775141 RCV002517329
NM_000038.6(APC):c.4075A>T (p.Lys1359Ter)	SNV Unknown	Chr5:112839669	Pathogenic	Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Single Submitter	CA279817	rs_863225352	2 SubmittersRCV000202280 RCV004563114
NM_000038.6(APC):c.4495G>T (p.Gly1499Ter)	SNV Germline	Chr5:112840089	Pathogenic	Condition: not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA248507	rs_756912930	5 SubmittersRCV000202036 RCV003335213 RCV003380517 RCV003401091
NM_000038.6(APC):c.4634C>G (p.Ser1545Ter)	SNV Germline	Chr5:112840228	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279684	rs_863225356	3 SubmittersRCV000202021 RCV002327055 RCV004563116
NM_000038.6(APC):c.4645C>T (p.Gln1549Ter)	SNV Germline/somatic	Chr5:112840239	Pathogenic	Condition: not provided Familial adenomatous polyposis 1 Atypical endometrial hyperplasia	Criteria Provided Multiple Submitters No Conflicts	CA279766	rs_863225357	5 SubmittersRCV000202166 RCV002519589 RCV003327380
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter)	SNV Germline	Chr5:112843105	Pathogenic/Likely pathogenic	Condition: not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA248496	rs_755046558	8 SubmittersRCV000201984 RCV002517338 RCV004658989
NM_002528.7(NTHL1):c.685+1G>A	SNV Germline	Chr16:2043566	Pathogenic/Likely pathogenic	Familial adenomatous polyposis 3 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA210446	rs_372946560	6 SubmittersRCV000202319 RCV000807122 RCV003352802
NM_000038.6(APC):c.7573C>T (p.Arg2525Cys)	SNV Germline	Chr5:112843167	Conflicting classifications of pathogenicity	Familial multiple polyposis syndrome not specified Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA048504	rs_774952444	12 SubmittersRCV000202809 RCV000236933 RCV000573374 RCV003997051 RCV000590375 RCV002517343
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)	SNV Germline	Chr1:45330557	Pathogenic/Likely pathogenic	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Condition: not provided MUTYH-related disorder Familial adenomatous polyposis 2 Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA056613	rs_587782228	13 SubmittersRCV000204688 RCV000215469 RCV000479402 RCV004530223 RCV002503805
NM_001048174.2(MUTYH):c.913+3G>A	SNV Germline	Chr1:45332020	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA350688	rs_864622394	4 SubmittersRCV000206689 RCV003477689 RCV000567027
NM_001048174.2(MUTYH):c.317A>T (p.Glu106Val)	SNV Germline	Chr1:45333158	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA350188	rs_864622450	4 SubmittersRCV000206122 RCV000566693
NM_001128425.2(MUTYH):c.161G>A (p.Cys54Tyr)	SNV Germline	Chr1:45333600	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA055629	rs_560905645	9 SubmittersRCV000204226 RCV000220830 RCV000781623 RCV000985858
NM_000038.6(APC):c.362G>T (p.Arg121Ile)	SNV Germline	Chr5:112767330	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA036020	rs_193049694	6 SubmittersRCV000570345 RCV004563134 RCV003997627
NM_000038.6(APC):c.1589T>C (p.Val530Ala)	SNV Germline	Chr5:112827969	Conflicting classifications of pathogenicity	Condition: not provided Familial adenomatous polyposis 1 not specified Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA028518	rs_202199891	12 SubmittersRCV000657022 RCV000206690 RCV000235972 RCV000566249 RCV003997566
NM_000038.6(APC):c.2627G>A (p.Arg876Gln)	SNV Germline	Chr5:112838221	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA032826	rs_373428732	12 SubmittersRCV000206834 RCV000236048 RCV000491164 RCV001193536 RCV003997668
NM_000038.6(APC):c.2642C>T (p.Ser881Phe)	SNV Germline	Chr5:112838236	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary cancer Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA348575	rs_535344579	7 SubmittersRCV000204328 RCV000565056 RCV000478187 RCV003491951 RCV004806195
NM_000038.6(APC):c.3242G>A (p.Ser1081Asn)	SNV Germline	Chr5:112838836	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA349100	rs_374380039	11 SubmittersRCV000204913 RCV000573936 RCV004589876 RCV004739593 RCV003997561
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser)	SNV Germline	Chr5:112838917	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided APC-related disorder Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA035035	rs_151286353	10 SubmittersRCV000571447 RCV001264579 RCV000236966 RCV003967554 RCV004567480
NM_000038.6(APC):c.5712A>G (p.Gln1904=)	SNV Germline	Chr5:112841306	Conflicting classifications of pathogenicity	APC-Associated Polyposis Disorders not specified Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome APC-related disorder	Criteria Provided Conflicting Classifications	CA042729	rs_755851369	7 SubmittersRCV001152939 RCV002465562 RCV003765319 RCV000491966 RCV004739594
NM_000038.6(APC):c.5752A>G (p.Ile1918Val)	SNV Germline	Chr5:112841346	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA042868	rs_776966222	10 SubmittersRCV000574367 RCV000204791 RCV000481360 RCV003417741 RCV003997579
NM_000038.6(APC):c.7143A>C (p.Gln2381His)	SNV Germline	Chr5:112842737	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA047064	rs_756153152	7 SubmittersRCV000236701 RCV000568621 RCV003468948 RCV004739596 RCV003997631
NM_000038.6(APC):c.7577A>G (p.His2526Arg)	SNV Germline	Chr5:112843171	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA048553	rs_750012595	6 SubmittersRCV000206465 RCV000236866 RCV000570828 RCV003997589
NM_000038.6(APC):c.562C>T (p.Gln188Ter)	SNV Germline	Chr5:112780820	Pathogenic	Condition: not provided Colorectal cancer, susceptibility to Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA353493	rs_869312753	4 SubmittersRCV000501976 RCV000210089 RCV004563140 RCV004649098
NM_001048174.2(MUTYH):c.1500C>T (p.Val500=)	SNV Germline	Chr1:45329372	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA10577695	rs_876658222	3 SubmittersRCV000219151 RCV000985857 RCV005055752
NM_001048174.2(MUTYH):c.1434+4A>G	SNV Germline	Chr1:45330512	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA10577696	rs_876658323	4 SubmittersRCV000217104 RCV000820803
NM_001048174.2(MUTYH):c.1434+1G>T	SNV Germline	Chr1:45330515	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2	Criteria Provided Multiple Submitters No Conflicts	CA10577697	rs_876659420	4 SubmittersRCV000223520 RCV001242171
NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter)	SNV Germline	Chr1:45331187	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10577699	rs_876660774	3 SubmittersRCV000219128 RCV001386175 RCV003477769
NM_001048174.2(MUTYH):c.1377C>T (p.Ser459=)	SNV Germline	Chr1:45331197	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10577700	rs_876658316	6 SubmittersRCV000214804 RCV001505755 RCV005406956 RCV004998444
NM_001048174.2(MUTYH):c.1227G>A (p.Arg409=)	SNV Germline	Chr1:45331432	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA055942	rs_199575659	8 SubmittersRCV000222130 RCV000542792 RCV000611753 RCV004998481
NM_001048174.2(MUTYH):c.923C>T (p.Thr308Ile)	SNV Germline	Chr1:45331840	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10577720	rs_876659790	5 SubmittersRCV000222190 RCV000465481 RCV002478802
NM_001048174.2(MUTYH):c.920A>G (p.Asn307Ser)	SNV Germline	Chr1:45331843	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA060122	rs_765808018	5 SubmittersRCV000221955 RCV000461753 RCV001582745
NM_001048174.2(MUTYH):c.877G>A (p.Gly293Arg)	SNV Germline	Chr1:45332059	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided Familial adenomatous polyposis 2 Gastric cancer	Criteria Provided Conflicting Classifications	CA059784	rs_765686051	7 SubmittersRCV000219497 RCV000540135 RCV001551196 RCV005025357
NM_001048174.2(MUTYH):c.797G>A (p.Arg266His)	SNV Germline	Chr1:45332218	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA059467	rs_146044717	8 SubmittersRCV000213855 RCV000457374 RCV000485598 RCV001293539
NM_001048174.2(MUTYH):c.763A>G (p.Met255Val)	SNV Germline	Chr1:45332252	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2 Carcinoma of colon	Criteria Provided Multiple Submitters No Conflicts	CA10577722	rs_876659676	6 SubmittersRCV000216419 RCV000479475 RCV000536194 RCV001355443
NM_001048174.2(MUTYH):c.752A>G (p.Asn251Ser)	SNV Germline	Chr1:45332263	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA10577723	rs_587778534	6 SubmittersRCV000223375 RCV001800559 RCV001220277
NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu)	SNV Germline	Chr1:45332617	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA058472	rs_768553551	9 SubmittersRCV000216464 RCV000542510 RCV001576133
NM_001048174.2(MUTYH):c.544C>T (p.Gln182Ter)	SNV Germline	Chr1:45332636	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2	Criteria Provided Multiple Submitters No Conflicts	CA058460	rs_376561094	6 SubmittersRCV000223123 RCV000426595 RCV000554059
NM_001048174.2(MUTYH):c.420G>A (p.Glu140=)	SNV Germline	Chr1:45332918	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2	Criteria Provided Conflicting Classifications	CA10577733	rs_876658641	5 SubmittersRCV000222177 RCV000471395
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)	SNV Germline	Chr1:45332955	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2 Carcinoma of colon Familial adenomatous polyposis 2 Gastric cancer Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA057931	rs_762307622	12 SubmittersRCV000213856 RCV000235993 RCV000411443 RCV001353489 RCV002500727 RCV003165561
NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter)	SNV Germline	Chr1:45332959	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2	Criteria Provided Multiple Submitters No Conflicts	CA10577735	rs_876660787	6 SubmittersRCV000216618 RCV000485126 RCV000707329
NM_001048174.2(MUTYH):c.305-1G>C	SNV Germline	Chr1:45333171	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Carcinoma of colon Familial adenomatous polyposis 2 Pilomatrixoma Neoplasm of stomach Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10577740	rs_372267274	14 SubmittersRCV000221410 RCV000230931 RCV001353991 RCV000763342 RCV000478994
NM_001048174.2(MUTYH):c.299A>G (p.Tyr100Cys)	SNV Germline	Chr1:45333290	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10577741	rs_876660615	7 SubmittersRCV000218591 RCV000559697 RCV005411382
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg)	SNV Germline	Chr1:45333507	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2 Carcinoma of colon	Criteria Provided Conflicting Classifications	CA057160	rs_558707786	8 SubmittersRCV000220679 RCV000505782 RCV001219416 RCV001354525
NM_001048174.2(MUTYH):c.131C>T (p.Pro44Leu)	SNV Germline	Chr1:45333546	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA056369	rs_759140181	7 SubmittersRCV000219858 RCV000699386 RCV001813772
NM_001048174.2(MUTYH):c.99G>A (p.Lys33=)	SNV Germline	Chr1:45334407	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2 MUTYH-related disorder	Criteria Provided Conflicting Classifications	CA826419	rs_375084663	8 SubmittersRCV000217129 RCV000731866 RCV001087874 RCV004541347
NM_001048174.2(MUTYH):c.-6-5T>G	SNV Germline	Chr1:45334516	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2 not specified	Criteria Provided Conflicting Classifications	CA10577752	rs_876660715	6 SubmittersRCV000219910 RCV000481124 RCV000547282 RCV001192931
NM_001128425.2(MUTYH):c.36+3A>T	SNV Germline	Chr1:45340216	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA089483	rs_759654665	6 SubmittersRCV000220129 RCV000640392 RCV000985859
NM_000038.6(APC):c.220G>T (p.Glu74Ter)	SNV Germline	Chr5:112766410	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Carcinoma of colon Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578284	rs_876658941	5 SubmittersRCV000215333 RCV000254875 RCV000501460 RCV004563160
NM_000038.6(APC):c.221-1G>C	SNV Germline	Chr5:112767188	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578285	rs_863225327	4 SubmittersRCV000213314 RCV003462425
NM_000038.6(APC):c.251G>T (p.Gly84Val)	SNV Germline	Chr5:112767219	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome APC-related disorder Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA032367	rs_143145868	6 SubmittersRCV000220182 RCV003417782 RCV003462427 RCV003997815
NM_000038.6(APC):c.266C>G (p.Ser89Ter)	SNV Germline	Chr5:112767234	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 APC-related attenuated familial adenomatous polyposis	Criteria Provided Multiple Submitters No Conflicts	CA10578287	rs_876658846	5 SubmittersRCV000221332 RCV000767384 RCV004992098
NM_000038.6(APC):c.278T>A (p.Leu93His)	SNV Germline	Chr5:112767246	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary cancer Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA10578288	rs_876658977	3 SubmittersRCV000217948 RCV003491973 RCV004563163
NM_000038.6(APC):c.311C>G (p.Ser104Ter)	SNV Germline	Chr5:112767279	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578290	rs_74953290	8 SubmittersRCV000213087 RCV000519665 RCV000506152 RCV001254064
NM_000038.6(APC):c.384A>G (p.Arg128=)	SNV Germline	Chr5:112767352	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA10578292	rs_876659284	5 SubmittersRCV000213500 RCV000484255 RCV002515633
NM_000038.6(APC):c.481C>T (p.Gln161Ter)	SNV Germline	Chr5:112775687	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Multiple Submitters No Conflicts	CA10578293	rs_876658325	6 SubmittersRCV000221156 RCV001269625 RCV003765401 RCV005361254
NM_000038.6(APC):c.531+1G>C	SNV Germline	Chr5:112775738	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10578295	rs_876659973	7 SubmittersRCV000217536 RCV000411683 RCV000482581
NM_000038.6(APC):c.889A>G (p.Thr297Ala)	SNV Germline	Chr5:112815549	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA10578302	rs_876660572	3 SubmittersRCV000216281 RCV001762498 RCV004563214
NM_000038.6(APC):c.933+1G>A	SNV Germline	Chr5:112815594	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Hepatocellular carcinoma Familial adenomatous polyposis 1 Carcinoma of colon Desmoid disease, hereditary Neoplasm of stomach Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578303	rs_876660765	4 SubmittersRCV000217532 RCV000763539 RCV004563220
NM_000038.6(APC):c.933+5C>A	SNV Germline	Chr5:112815598	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA051240	rs_573528468	7 SubmittersRCV000220507 RCV000417629 RCV001705214 RCV004567560
NM_000038.6(APC):c.1234C>T (p.Gln412Ter)	SNV Germline	Chr5:112819266	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578310	rs_876660802	4 SubmittersRCV000214229 RCV002516175
NM_000038.6(APC):c.1276G>T (p.Ala426Ser)	SNV Germline	Chr5:112819308	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis Desmoid disease, hereditary Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA026974	rs_200598389	8 SubmittersRCV000222204 RCV001571736 RCV004020654 RCV003997839 RCV005361270
NM_000038.6(APC):c.1333C>G (p.Gln445Glu)	SNV Germline	Chr5:112821916	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided 6 conditions Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA10578313	rs_876658802	8 SubmittersRCV000217057 RCV000585258 RCV002494587 RCV003475011
NM_000038.6(APC):c.1342C>G (p.Pro448Ala)	SNV Germline	Chr5:112821925	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA027206	rs_374195067	7 SubmittersRCV000219615 RCV001575306 RCV002516173 RCV003417795 RCV003998591
NM_000038.6(APC):c.1417C>T (p.Gln473Ter)	SNV Germline	Chr5:112827116	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10578316	rs_876658868	4 SubmittersRCV000219498 RCV002519679 RCV004696880
NM_000038.6(APC):c.1531G>T (p.Gly511Ter)	SNV Germline	Chr5:112827230	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578317	rs_876658811	2 SubmittersRCV000220669 RCV003765410
NM_000038.6(APC):c.1553C>T (p.Thr518Met)	SNV Germline	Chr5:112827933	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Hepatocellular carcinoma Carcinoma of colon Neoplasm of stomach Desmoid disease, hereditary Familial adenomatous polyposis 1 Condition: not provided not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA028394	rs_371453363	11 SubmittersRCV000221284 RCV000461223 RCV000764560 RCV001284232 RCV004689682 RCV004804894
NM_000038.6(APC):c.1626+2T>G	SNV Germline	Chr5:112828008	Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Reviewed By Expert Panel	CA10578321	rs_876658858	3 SubmittersRCV000215321 RCV003148685
NM_000038.6(APC):c.1691G>A (p.Arg564Gln)	SNV Germline	Chr5:112828920	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA029022	rs_747418061	9 SubmittersRCV000213578 RCV000779711 RCV001572567 RCV004567640 RCV003998557
NM_000038.6(APC):c.1743+1G>T	SNV Germline	Chr5:112828973	Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578324	rs_761458613	4 SubmittersRCV000217961 RCV004563196
NM_000038.6(APC):c.1743+5C>T	SNV Germline	Chr5:112828977	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA10578325	rs_876658386	4 SubmittersRCV000222937 RCV000482447 RCV000813144
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter)	SNV Germline	Chr5:112835073	Pathogenic	Hereditary cancer-predisposing syndrome Carcinoma of colon Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578327	rs_876658355	7 SubmittersRCV000217597 RCV000504287 RCV000584117 RCV002516171
NM_000038.6(APC):c.1873C>T (p.Gln625Ter)	SNV Germline	Chr5:112835080	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial multiple polyposis syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578329	rs_876659517	6 SubmittersRCV000215115 RCV000520225 RCV001194208 RCV004563184
NM_000038.6(APC):c.1959-2A>G	SNV Germline	Chr5:112837551	Likely pathogenic	Hereditary cancer-predisposing syndrome Carcinoma of colon Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578331	rs_876658214	5 SubmittersRCV000220818 RCV000501512 RCV002518241
NM_000038.6(APC):c.1984C>A (p.Leu662Ile)	SNV Germline	Chr5:112837578	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Condition: not provided Duodenal adenocarcinoma Rectum adenocarcinoma	Criteria Provided Conflicting Classifications	CA030573	rs_756859993	10 SubmittersRCV000214596 RCV000474515 RCV000483692 RCV000657144 RCV000677741 RCV000677742
NM_000038.6(APC):c.1999C>T (p.Gln667Ter)	SNV Germline	Chr5:112837593	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578333	rs_876660130	3 SubmittersRCV000213199 RCV003765431
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)	SNV Germline	Chr5:112838068	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary not specified Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA032224	rs_186641437	9 SubmittersRCV000220641 RCV000485918 RCV000764563 RCV001174911 RCV002515684 RCV004804912
NM_000038.6(APC):c.2485A>G (p.Thr829Ala)	SNV Germline	Chr5:112838079	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial adenomatous polyposis 1 APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA032276	rs_768810807	8 SubmittersRCV000223345 RCV000480119 RCV000766315 RCV002519701 RCV003422123 RCV003997948
NM_000038.6(APC):c.2672T>C (p.Met891Thr)	SNV Germline	Chr5:112838266	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis Condition: not provided	Criteria Provided Conflicting Classifications	CA10578343	rs_876660004	5 SubmittersRCV000220564 RCV002515681 RCV003998003 RCV003477749
NM_000038.6(APC):c.2719G>A (p.Gly907Arg)	SNV Germline	Chr5:112838313	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA033124	rs_771458366	7 SubmittersRCV000216931 RCV000235531 RCV003765426 RCV003997973
NM_000038.6(APC):c.2870A>G (p.Lys957Arg)	SNV Germline	Chr5:112838464	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided Classic or attenuated familial adenomatous polyposis not specified	Criteria Provided Conflicting Classifications	CA033814	rs_777881096	12 SubmittersRCV000220541 RCV000411470 RCV000586497 RCV003997936 RCV004701289
NM_000038.6(APC):c.2993G>T (p.Gly998Val)	SNV Germline	Chr5:112838587	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA034190	rs_759579036	8 SubmittersRCV000216134 RCV000761125 RCV003325472 RCV003998564
NM_000038.6(APC):c.3084T>A (p.Ser1028Arg)	SNV Germline	Chr5:112838678	Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1	Reviewed By Expert Panel	CA10578350	rs_876660265	5 SubmittersRCV000213818 RCV001800574 RCV002515704
NM_000038.6(APC):c.3146G>A (p.Trp1049Ter)	SNV Germline	Chr5:112838740	Pathogenic	Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578351	rs_876658667	4 SubmittersRCV000216288 RCV000508021 RCV003335247
NM_000038.6(APC):c.3161A>C (p.His1054Pro)	SNV Germline	Chr5:112838755	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA034499	rs_777538550	11 SubmittersRCV000217896 RCV000232950 RCV000236039 RCV000657005 RCV003997981
NM_000038.6(APC):c.3211C>T (p.Gln1071Ter)	SNV Germline	Chr5:112838805	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578352	rs_876659539	5 SubmittersRCV000214546 RCV000758728 RCV002515653
NM_000038.6(APC):c.3932T>G (p.Ile1311Ser)	SNV Germline	Chr5:112839526	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA10578361	rs_876659190	4 SubmittersRCV000223153 RCV004563173 RCV004806229
NM_000038.6(APC):c.3964G>A (p.Glu1322Lys)	SNV Germline	Chr5:112839558	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1 6 conditions APC-related disorder	Criteria Provided Conflicting Classifications	CA037222	rs_752926571	10 SubmittersRCV000219449 RCV000485020 RCV001818536 RCV003997998 RCV004563195 RCV005031799 RCV004739616
NM_000038.6(APC):c.4310A>G (p.Lys1437Arg)	SNV Germline	Chr5:112839904	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA038588	rs_745825088	9 SubmittersRCV000220589 RCV000463670 RCV001785522 RCV003320610 RCV003997856
NM_000038.6(APC):c.4376C>G (p.Thr1459Ser)	SNV Germline	Chr5:112839970	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis Condition: not provided	Criteria Provided Conflicting Classifications	CA038928	rs_756048549	7 SubmittersRCV000214073 RCV000461981 RCV003997841 RCV003477717
NM_000038.6(APC):c.4627A>G (p.Lys1543Glu)	SNV Germline	Chr5:112840221	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA10578378	rs_876658995	2 SubmittersRCV000220113 RCV004563164
NM_000038.6(APC):c.4913T>C (p.Met1638Thr)	SNV Germline	Chr5:112840507	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders not specified APC-related disorder Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA040178	rs_201797422	7 SubmittersRCV000213972 RCV000348692 RCV004525836 RCV004725081 RCV004804892 RCV004567582
NM_000038.6(APC):c.5038C>T (p.Gln1680Ter)	SNV Germline	Chr5:112840632	Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial multiple polyposis syndrome Familial adenomatous polyposis 1	Reviewed By Expert Panel	CA10578390	rs_754122018	6 SubmittersRCV000214118 RCV000507363 RCV001260374 RCV003337254
NM_000038.6(APC):c.5162G>A (p.Gly1721Asp)	SNV Germline	Chr5:112840756	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA10578397	rs_876660114	4 SubmittersRCV000221896 RCV004563199 RCV004804914
NM_000038.6(APC):c.5378C>G (p.Ala1793Gly)	SNV Germline	Chr5:112840972	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Condition: not provided 6 conditions Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA041747	rs_764203580	9 SubmittersRCV000218908 RCV000457479 RCV001797685 RCV003126614 RCV005031801 RCV003998563
NM_000038.6(APC):c.5424C>T (p.Asn1808=)	SNV Germline	Chr5:112841018	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided APC-Associated Polyposis Disorders APC-related attenuated familial adenomatous polyposis Gardner syndrome Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA041957	rs_747721259	9 SubmittersRCV000216012 RCV001545827 RCV001152937 RCV005361301 RCV004567579
NM_000038.6(APC):c.5465T>G (p.Val1822Gly)	SNV Germline	Chr5:112841059	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA10578404	rs_459552	6 SubmittersRCV000216852 RCV000589084 RCV004589953 RCV004563161
NM_000038.6(APC):c.5524T>A (p.Ser1842Thr)	SNV Germline	Chr5:112841118	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided APC-Associated Polyposis Disorders Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1 APC-related disorder	Criteria Provided Conflicting Classifications	CA042221	rs_754648125	7 SubmittersRCV000215089 RCV000235925 RCV000271229 RCV003997982 RCV002515673 RCV003947727
NM_000038.6(APC):c.5627G>T (p.Arg1876Met)	SNV Germline	Chr5:112841221	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided 6 conditions Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA042448	rs_773201570	6 SubmittersRCV000217420 RCV000237081 RCV002494584 RCV003997790 RCV004567508
NM_000038.6(APC):c.5918G>A (p.Ser1973Asn)	SNV Germline	Chr5:112841512	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA10578414	rs_4987109	8 SubmittersRCV000218058 RCV003488476 RCV001563151 RCV002515656 RCV003997947
NM_000038.6(APC):c.5944A>T (p.Lys1982Ter)	SNV Germline	Chr5:112841538	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578415	rs_876660665	3 SubmittersRCV000217699 RCV003765441
NM_000038.6(APC):c.6213A>G (p.Ile2071Met)	SNV Germline	Chr5:112841807	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA10578423	rs_876660358	3 SubmittersRCV000217724 RCV002515718
NM_000038.6(APC):c.6383C>T (p.Ala2128Val)	SNV Germline	Chr5:112841977	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 6 conditions Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA044469	rs_753228011	5 SubmittersRCV000213966 RCV001562688 RCV004567629 RCV005031800 RCV004806237
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser)	SNV Germline	Chr5:112842699	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial adenomatous polyposis 1 6 conditions Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA046951	rs_377308875	12 SubmittersRCV000220467 RCV000236554 RCV001280597 RCV002291603 RCV002478806 RCV003998013
NM_000038.6(APC):c.7284A>G (p.Glu2428=)	SNV Germline	Chr5:112842878	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified APC-related disorder Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA10578441	rs_876658194	5 SubmittersRCV000214601 RCV000605613 RCV003407747 RCV004563145
NM_000038.6(APC):c.7471A>G (p.Met2491Val)	SNV Germline	Chr5:112843065	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA048161	rs_375674083	10 SubmittersRCV000232400 RCV000222149 RCV000758743
NM_000038.6(APC):c.7478T>C (p.Leu2493Pro)	SNV Germline	Chr5:112843072	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA048192	rs_769889352	8 SubmittersRCV000214237 RCV000481205 RCV000780839 RCV002519728 RCV004806242
NM_000038.6(APC):c.7495G>C (p.Val2499Leu)	SNV Germline	Chr5:112843089	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary cancer Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA10578444	rs_33941929	8 SubmittersRCV000214829 RCV000758745 RCV003491971 RCV003765411 RCV003997871
NM_000038.6(APC):c.7715C>G (p.Ser2572Ter)	SNV Germline	Chr5:112843309	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578448	rs_876659280	3 SubmittersRCV000222855 RCV000825577 RCV004567568
NM_000038.6(APC):c.8298C>T (p.Ser2766=)	SNV Germline	Chr5:112843892	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders Condition: not provided Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA10578463	rs_876658523	7 SubmittersRCV000215817 RCV001157356 RCV001712099 RCV003997826 RCV004567520
NM_000038.6(APC):c.8514C>G (p.Tyr2838Ter)	SNV Germline	Chr5:112844108	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA10578465	rs_876660375	2 SubmittersRCV000220158 RCV004563209

NM_000038.6(APC):c.1500T>G (p.Tyr500Ter)

SNV
Germline

Chr5:112827199

Pathogenic

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005243

rs_387906230

5 SubmittersRCV000000832 RCV001284231 RCV002390083

NM_000038.6(APC):c.904C>T (p.Arg302Ter)

SNV
Germline/somatic

Chr5:112815564

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Gardner syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, susceptibility to
Familial multiple polyposis syndrome
Neoplasm
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Multiple Submitters
No Conflicts

CA015644

rs_137854568

18 SubmittersRCV000000834 RCV000000835 RCV000164370 RCV000077996 RCV000210154 RCV000499742 RCV005229760 RCV003996069

NM_000038.6(APC):c.839C>G (p.Ser280Ter)

SNV
Germline

Chr5:112815499

Pathogenic

Gardner syndrome
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA015451

rs_137854569

3 SubmittersRCV000000836 RCV000503268 RCV004562179

NM_000038.6(APC):c.2138C>G (p.Ser713Ter)

SNV
Germline

Chr5:112837732

Pathogenic

Gardner syndrome
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007219

rs_137854570

4 SubmittersRCV000000837 RCV000491636 RCV004562180

NM_000038.6(APC):c.4012C>T (p.Gln1338Ter)

SNV
Germline/somatic

Chr5:112839606

Pathogenic

Carcinoma of colon
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008865

rs_121913327

4 SubmittersRCV000000838 RCV000168134

NM_000038.6(APC):c.3199C>T (p.Gln1067Ter)

SNV
Germline/somatic

Chr5:112838793

Pathogenic

Gastric cancer
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008153

rs_137854571

4 SubmittersRCV000000840 RCV001019125 RCV004562181

NM_000038.6(APC):c.1621C>T (p.Gln541Ter)

SNV
Germline

Chr5:112828001

Pathogenic

Brain tumor-polyposis syndrome 2
Familial adenomatous polyposis 1
Carcinoma of colon
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005374

rs_137854572

7 SubmittersRCV000000844 RCV000000843 RCV000503851 RCV000657602 RCV000490845

NM_000038.6(APC):c.1660C>T (p.Arg554Ter)

SNV
Germline/somatic

Chr5:112828889

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Colorectal cancer, susceptibility to
Familial multiple polyposis syndrome
Hepatocellular carcinoma
Neoplasm of stomach
Familial adenomatous polyposis 1
Carcinoma of colon
Desmoid disease, hereditary
Condition: not provided
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA005424

rs_137854573

13 SubmittersRCV000000845 RCV000129303 RCV000210172 RCV000844608 RCV000763541 RCV000482405 RCV003162203

NM_000038.6(APC):c.1690C>T (p.Arg564Ter)

SNV
Germline/somatic

Chr5:112828919

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial multiple polyposis syndrome
Neoplasm
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Multiple Submitters
No Conflicts

CA005451

rs_137854574

18 SubmittersRCV000000846 RCV000493386 RCV000524040 RCV001195432 RCV005229761 RCV003996071

NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)

SNV
Germline

Chr5:112838399

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, susceptibility to
Desmoid disease, hereditary
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
Carcinoma of colon
Familial multiple polyposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007805

rs_137854575

19 SubmittersRCV000000848 RCV000129305 RCV000202012 RCV000210151 RCV000763542 RCV000844610

NM_000038.6(APC):c.470G>A (p.Trp157Ter)

SNV
Germline

Chr5:112775676

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA009701

rs_137854576

3 SubmittersRCV000000852

NM_000038.6(APC):c.643C>T (p.Gln215Ter)

SNV
Germline

Chr5:112780901

Pathogenic

Familial adenomatous polyposis 1
Brain tumor-polyposis syndrome 2
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA011177

rs_137854577

11 SubmittersRCV000000853 RCV000000854 RCV000202265 RCV000507194 RCV000491571 RCV002490286

NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)

SNV
Germline

Chr5:112839514

Conflicting classifications of pathogenicity; association; risk factor

Breast cancer, susceptibility to
Familial adenomatous polyposis 1
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Colorectal cancer, susceptibility to
Familial multiple polyposis syndrome
Carcinoma of colon
Colorectal cancer
Breast carcinoma
APC-Associated Polyposis Disorders
Familial colorectal cancer
Diffuse midline glioma, H3 K27-altered

Criteria Provided
Conflicting Classifications

CA008761

rs_1801155

52 SubmittersRCV000000864 RCV000000865 RCV000020088 RCV000034388 RCV000120049 RCV000115087 RCV000210085 RCV000238802 RCV000722046 RCV001195214 RCV001554302 RCV001535784 RCV001824556 RCV004776267

NM_000038.6(APC):c.1495C>T (p.Arg499Ter)

SNV
Germline/somatic

Chr5:112827194

Pathogenic

Gardner syndrome
Familial adenomatous polyposis 1
Familial multiple polyposis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
APC-Associated Polyposis Disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA005230

rs_137854580

16 SubmittersRCV000000867 RCV000204796 RCV000499412 RCV000491830 RCV000521676 RCV001353679 RCV003483421

NM_000038.6(APC):c.1458T>G (p.Tyr486Ter)

SNV
Germline

Chr5:112827157

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16024500

rs_2229992

2 SubmittersRCV000000868

NM_000038.6(APC):c.2093T>A (p.Leu698Ter)

SNV
Germline

Chr5:112837687

Pathogenic

Gardner syndrome
Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA007187

rs_137854582

2 SubmittersRCV000000875 RCV001310095

NM_000038.6(APC):c.423-1G>A

SNV
Germline

Chr5:112775628

Pathogenic

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA009189

rs_397514031

8 SubmittersRCV000000878 RCV000502154 RCV000491238

NM_000038.6(APC):c.622C>T (p.Gln208Ter)

SNV
Germline

Chr5:112780880

Pathogenic

Gardner syndrome
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA011031

rs_137854583

4 SubmittersRCV000000882 RCV000491262 RCV003335009

NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)

SNV
Germline

Chr1:45332803

Pathogenic/Likely pathogenic

Endometrial carcinoma
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Carcinoma of colon
Gastric cancer
Familial adenomatous polyposis 2
Gastric cancer
MUTYH-related disorder
Inherited polyposis and early onset colorectal cancer - germline testing

Criteria Provided
Multiple Submitters
No Conflicts

CA011761

rs_34612342

62 SubmittersRCV000005613 RCV000005612 RCV000115766 RCV000079502 RCV000121607 RCV000144631 RCV001554314 RCV002476933 RCV004528083 RCV005055057

NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)

SNV
Germline

Chr1:45331556

Pathogenic/Likely pathogenic

Endometrial cancer
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Carcinoma of colon
Familial adenomatous polyposis 2
Neoplasm of stomach
Small intestine carcinoid
Familial adenomatous polyposis 2
Neoplasm of stomach
Pilomatrixoma
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
Ovarian carcinoma
Colon cancer
Breast carcinoma
Familial colorectal cancer
Diffuse midline glioma, H3 K27-altered
Inherited polyposis and early onset colorectal cancer - germline testing
MUTYH-related disorder
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA011561

rs_36053993

73 SubmittersRCV000005615 RCV000005614 RCV000115748 RCV000079501 RCV000121598 RCV000144637 RCV000477907 RCV000493920 RCV000515320 RCV000501239 RCV001262769 RCV001580144 RCV001574076 RCV002051775 RCV004785246 RCV004808548 RCV004528084 RCV005016243

NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)

SNV
Germline

Chr1:45333449

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial colorectal cancer
Carcinoma of colon
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA013334

rs_121908380

18 SubmittersRCV000005617 RCV000163049 RCV000486820 RCV000661934 RCV001353649 RCV002496270

NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)

SNV
Germline

Chr1:45331220

Pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
Familial adenomatous polyposis 2
Gastric cancer
MUTYH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA011650

rs_121908381

21 SubmittersRCV000005618 RCV000222872 RCV000235388 RCV001353602 RCV002496271 RCV003335015

NM_000038.6(APC):c.2438A>G (p.Asn813Ser)

SNV
Germline

Chr5:112838032

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
not specified
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA007470

rs_201522866

12 SubmittersRCV000162586 RCV000034381 RCV004566795 RCV001268977 RCV005357247

NM_000038.6(APC):c.2677G>A (p.Glu893Lys)

SNV
Germline

Chr5:112838271

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA007732

rs_199740875

10 SubmittersRCV000034383 RCV000164189 RCV000409913 RCV001174835 RCV003996151

NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)

SNV
Germline

Chr5:112839073

Conflicting classifications of pathogenicity

Condition: not provided
Colorectal adenoma
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA008452

rs_201004111

19 SubmittersRCV000034385 RCV000148371 RCV000130655 RCV000204291 RCV000235094 RCV003996153 RCV003407396

NM_000038.6(APC):c.379A>G (p.Ser127Gly)

SNV
Germline

Chr5:112767347

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA008675

rs_200089324

12 SubmittersRCV000034386 RCV000167102 RCV000410052 RCV003155048 RCV003996154

NM_000038.6(APC):c.388A>G (p.Ser130Gly)

SNV
Germline

Chr5:112767356

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Familial multiple polyposis syndrome
APC-Associated Polyposis Disorders
APC-related disorder

Criteria Provided
Conflicting Classifications

CA008731

rs_150973053

17 SubmittersRCV000034387 RCV000129715 RCV000122775 RCV000211891 RCV000417265 RCV001155264 RCV003944873

NM_000038.6(APC):c.5225G>A (p.Arg1742His)

SNV
Germline

Chr5:112840819

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
APC-Associated Polyposis Disorders
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009940

rs_199775075

11 SubmittersRCV000034392 RCV000163663 RCV000119236 RCV001151699 RCV003996156

NM_000038.6(APC):c.607C>G (p.Gln203Glu)

SNV
Germline

Chr5:112780865

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
APC-Associated Polyposis Disorders
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Familial multiple polyposis syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA010884

rs_141576417

23 SubmittersRCV000034394 RCV000115109 RCV000120051 RCV001156934 RCV000709878 RCV000757929 RCV004803098 RCV000987552

NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)

SNV
Germline

Chr5:112842318

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1
Carcinoma of colon
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Neoplasm of stomach
Carcinoma of colon
Hepatocellular carcinoma
APC-Associated Polyposis Disorders
APC-related disorder

Criteria Provided
Conflicting Classifications

CA012449

rs_201375478

19 SubmittersRCV000034395 RCV000115114 RCV000211930 RCV000664301 RCV000987580 RCV001353961 RCV000515374 RCV001151801 RCV003944874

NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)

SNV
Germline

Chr5:112842630

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Carcinoma of colon
Hepatocellular carcinoma
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Neoplasm of stomach
Familial adenomatous polyposis 1
APC-Associated Polyposis Disorders

Criteria Provided
Conflicting Classifications

CA012759

rs_200756935

17 SubmittersRCV000034397 RCV000115118 RCV000120030 RCV000515182 RCV001083312 RCV001153053

NM_000038.6(APC):c.7415C>T (p.Ala2472Val)

SNV
Germline

Chr5:112843009

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
APC-Associated Polyposis Disorders

Criteria Provided
Conflicting Classifications

CA013674

rs_200399245

15 SubmittersRCV000034398 RCV000164132 RCV000122799 RCV000235447 RCV000408370

NM_000038.6(APC):c.7766A>G (p.Glu2589Gly)

SNV
Germline

Chr5:112843360

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
not specified

Criteria Provided
Conflicting Classifications

CA014023

rs_200406572

13 SubmittersRCV000034400 RCV000129389 RCV000200515 RCV003996157 RCV004595893

NM_000038.6(APC):c.7888G>A (p.Val2630Ile)

SNV
Germline

Chr5:112843482

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA014160

rs_199688874

15 SubmittersRCV000034402 RCV000115124 RCV000254630 RCV000409244

NM_000038.6(APC):c.1495C>G (p.Arg499Gly)

SNV
Germline

Chr5:112827194

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
not specified
Classic or attenuated familial adenomatous polyposis
6 conditions

Criteria Provided
Conflicting Classifications

CA005217

rs_137854580

12 SubmittersRCV000034403 RCV000472427 RCV000564391 RCV000780856 RCV003996158 RCV005042106

NM_000038.6(APC):c.1604C>T (p.Ser535Phe)

SNV
Germline

Chr5:112827984

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
APC-related disorder
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA005357

rs_75870842

16 SubmittersRCV000144567 RCV000159535 RCV000034404 RCV000035065 RCV003904891 RCV005357248

NM_000038.6(APC):c.1631T>C (p.Ile544Thr)

SNV
Germline

Chr5:112828860

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Carcinoma of colon
APC-Associated Polyposis Disorders
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA005403

rs_144056494

18 SubmittersRCV000034405 RCV000131638 RCV000211900 RCV000987559 RCV001353623 RCV001154528 RCV003996159 RCV004739315

NM_000038.6(APC):c.2297C>T (p.Ala766Val)

SNV
Germline

Chr5:112837891

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
not specified
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA007349

rs_200339830

14 SubmittersRCV000034407 RCV000199077 RCV000562498 RCV000779709 RCV003996160 RCV004739316

NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)

SNV
Germline

Chr5:112838767

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Hereditary cancer
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA008117

rs_148725540

28 SubmittersRCV000034408 RCV000120013 RCV000168362 RCV000115079 RCV000350760 RCV003492324 RCV004806016

NM_000038.6(APC):c.317G>A (p.Arg106His)

SNV
Germline

Chr5:112767285

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA008128

rs_201764637

15 SubmittersRCV000034409 RCV000455267 RCV000410470 RCV000565565 RCV000659270 RCV003996161

NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)

SNV
Germline

Chr5:112839966

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Neoplasm of stomach
Desmoid disease, hereditary
Carcinoma of colon
Hepatocellular carcinoma
Hereditary cancer
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009490

rs_143796828

12 SubmittersRCV000034415 RCV000196865 RCV000159555 RCV000515179 RCV003492325 RCV003996164

NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)

SNV
Germline

Chr5:112840986

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Desmoid disease, hereditary
APC-related disorder

Criteria Provided
Conflicting Classifications

CA010373

rs_200794097

14 SubmittersRCV000035077 RCV000034417 RCV000167996 RCV000491791 RCV005364907 RCV004739317

NM_000038.6(APC):c.6873A>T (p.Gln2291His)

SNV
Germline

Chr5:112842467

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
APC-Associated Polyposis Disorders
Carcinoma of colon
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA012603

rs_148878262

22 SubmittersRCV000034419 RCV000131637 RCV000168325 RCV000211931 RCV001151804 RCV001353490 RCV004739318 RCV003996165

NM_000038.6(APC):c.695G>A (p.Arg232Gln)

SNV
Germline

Chr5:112792495

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA012709

rs_201727026

10 SubmittersRCV000034420 RCV000472572 RCV000490876 RCV003996166

NM_000038.6(APC):c.7717A>G (p.Ile2573Val)

SNV
Germline

Chr5:112843311

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
not specified
Colorectal adenoma
Hereditary cancer-predisposing syndrome
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA013990

rs_145444830

17 SubmittersRCV000034421 RCV000122803 RCV000236063 RCV000148373 RCV000163980 RCV005357250

NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)

SNV
Germline

Chr1:45331485

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 2
not specified
Hereditary cancer-predisposing syndrome
MUTYH-related disorder
Familial colorectal cancer type X
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA011605

rs_144079536

22 SubmittersRCV000034669 RCV000123143 RCV000212714 RCV000115755 RCV004528162 RCV005357255 RCV001353918

NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)

SNV
Germline

Chr1:45331467

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Carcinoma of colon
not specified
Hereditary cancer
MUTYH-related disorder

Criteria Provided
Conflicting Classifications

CA011618

rs_150792276

25 SubmittersRCV000034670 RCV000115756 RCV000119122 RCV000144640 RCV000212715 RCV003492335 RCV004528163

NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)

SNV
Germline

Chr1:45334495

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA011771

rs_79777494

18 SubmittersRCV000034676 RCV000121605 RCV000129344 RCV000123151 RCV001353745

NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)

SNV
Germline

Chr1:45332446

Pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial colorectal cancer
Familial adenomatous polyposis 2
Gastric cancer
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA011806

rs_200495564

15 SubmittersRCV000034678 RCV000129829 RCV000482239 RCV000722047 RCV002496519 RCV003162293

NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)

SNV
Germline

Chr1:45334474

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 2
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA011829

rs_75321043

19 SubmittersRCV000034680 RCV000129347 RCV000121606 RCV000123155 RCV001353637

NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)

SNV
Germline

Chr1:45332278

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
not specified
Gastric cancer
Familial adenomatous polyposis 2
MUTYH-related disorder

Criteria Provided
Conflicting Classifications

CA011841

rs_149866955

21 SubmittersRCV000034681 RCV000123156 RCV000129219 RCV000613933 RCV005025089 RCV004739320

NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)

SNV
Germline

Chr1:45332174

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Hereditary cancer
Familial colorectal cancer type X
MUTYH-related disorder
Gastric cancer
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA011853

rs_138089183

24 SubmittersRCV000034682 RCV000131155 RCV000198445 RCV000212709 RCV003492336 RCV005357256 RCV004528164 RCV005016322

NM_001048174.2(MUTYH):c.850-2A>G

SNV
Germline

Chr1:45332088

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Gastric cancer
Carcinoma of colon
MUTYH-related disorder

Criteria Provided
Conflicting Classifications

CA011869

rs_77542170

19 SubmittersRCV000034683 RCV000212712 RCV000122431 RCV000129053 RCV001334797 RCV001357924 RCV004534727

NM_000038.6(APC):c.694C>T (p.Arg232Ter)

SNV
Germline/somatic

Chr5:112792494

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Condition: not provided
Familial adenomatous polyposis 1
Neoplasm of stomach
Desmoid disease, hereditary
Carcinoma of colon
Hepatocellular carcinoma
Neoplasm

Reviewed By Expert Panel

CA012693

rs_397515734

18 SubmittersRCV000035081 RCV000491782 RCV000844606 RCV000486263 RCV000763537 RCV004668751

NM_000038.6(APC):c.2510C>G (p.Ser837Ter)

SNV
Germline

Chr5:112838104

Pathogenic

Familial colorectal cancer
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007554

rs_79512956

3 SubmittersRCV000073620 RCV002426625 RCV004562237

NM_000038.6(APC):c.311C>A (p.Ser104Ter)

SNV
Unknown

Chr5:112767279

Pathogenic

Familial colorectal cancer
Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA008053

rs_74953290

2 SubmittersRCV000073865 RCV003337231

NM_000038.6(APC):c.1005A>G (p.Leu335=)

SNV
Germline

Chr5:112819037

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA004030

rs_3797704

12 SubmittersRCV000077980 RCV000491005 RCV000723617 RCV001353629 RCV003764753 RCV003997193

NM_000038.6(APC):c.1659G>A (p.Trp553Ter)

SNV
Germline

Chr5:112828888

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA005417

rs_398123116

4 SubmittersRCV000174655 RCV001012589 RCV004562244

NM_000038.6(APC):c.2365C>T (p.Gln789Ter)

SNV
Germline/somatic

Chr5:112837959

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA007382

rs_398123117

6 SubmittersRCV000490954 RCV000657603 RCV004562245 RCV005229885

NM_000038.6(APC):c.3982C>T (p.Gln1328Ter)

SNV
Germline

Chr5:112839576

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Carcinoma of colon
APC-related disorder
6 conditions
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008851

rs_398123121

10 SubmittersRCV000077990 RCV000570934 RCV000501536 RCV003415842 RCV005031562 RCV004562246

NM_000038.6(APC):c.5363G>A (p.Arg1788His)

SNV
Germline

Chr5:112840957

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
APC-Associated Polyposis Disorders
Condition: not provided
Desmoid disease, hereditary
Carcinoma of colon
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach

Criteria Provided
Conflicting Classifications

CA010335

rs_201472075

12 SubmittersRCV000159559 RCV000211922 RCV000232274 RCV000393057 RCV000590729 RCV000764566

NM_000038.6(APC):c.1213C>T (p.Arg405Ter)

SNV
Germline

Chr5:112819245

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
APC-related disorder
Familial multiple polyposis syndrome
Inherited polyposis and early onset colorectal cancer - germline testing

Criteria Provided
Multiple Submitters
No Conflicts

CA004094

rs_587779780

19 SubmittersRCV000115066 RCV000234357 RCV000202096 RCV003925108 RCV003479005 RCV005055068

NM_000038.6(APC):c.2413C>T (p.Arg805Ter)

SNV
Germline/somatic

Chr5:112838007

Pathogenic

Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Condition: not provided
Desmoid disease, hereditary
APC-related attenuated familial adenomatous polyposis
Gastric adenocarcinoma and proximal polyposis of the stomach
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
APC-related disorder
Familial adenomatous polyposis 1
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA007452

rs_587779783

14 SubmittersRCV000115073 RCV000501097 RCV001270020 RCV001292808 RCV001824606 RCV003997211 RCV003935094 RCV004562255 RCV004668779

NM_000038.6(APC):c.3088A>T (p.Lys1030Ter)

SNV
Germline

Chr5:112838682

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008039

rs_587779786

3 SubmittersRCV000115077 RCV003764809

NM_000038.6(APC):c.3368A>C (p.Gln1123Pro)

SNV
Germline

Chr5:112838962

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA008326

rs_587779789

9 SubmittersRCV000115081 RCV000569678 RCV001251414 RCV003997214 RCV004562256

NM_000038.6(APC):c.3378C>G (p.Ser1126Arg)

SNV
Germline

Chr5:112838972

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Condition: not provided
APC-Associated Polyposis Disorders

Criteria Provided
Conflicting Classifications

CA008342

rs_149353082

15 SubmittersRCV000120024 RCV000411300 RCV000565031 RCV000677784 RCV000985246 RCV001154639

NM_000038.6(APC):c.3472A>T (p.Arg1158Ter)

SNV
Germline

Chr5:112839066

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008436

rs_587779790

4 SubmittersRCV000115085 RCV003278666 RCV004562257

NM_000038.6(APC):c.3632T>C (p.Met1211Thr)

SNV
Germline

Chr5:112839226

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
6 conditions

Criteria Provided
Conflicting Classifications

CA008581

rs_575268622

7 SubmittersRCV000115086 RCV000772714 RCV000766434 RCV003764810 RCV003997215 RCV005031602

NM_000038.6(APC):c.3935G>C (p.Gly1312Ala)

SNV
Germline

Chr5:112839529

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA008783

rs_587779791

4 SubmittersRCV000115088 RCV000562223 RCV003764811

NM_000038.6(APC):c.4360A>G (p.Lys1454Glu)

SNV
Germline

Chr5:112839954

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal adenoma
not specified
Familial multiple polyposis syndrome
APC-Associated Polyposis Disorders
Condition: not provided
Familial adenomatous polyposis 1
Familial colorectal cancer

Criteria Provided
Conflicting Classifications

CA009483

rs_111866410

18 SubmittersRCV000115092 RCV000148365 RCV000200964 RCV000238996 RCV000264340 RCV000586737 RCV000987572 RCV001270348

NM_000038.6(APC):c.4709A>G (p.Asp1570Gly)

SNV
Germline

Chr5:112840303

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
APC-related disorder
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009695

rs_373419559

7 SubmittersRCV000115095 RCV000575957 RCV003935095 RCV004562259 RCV003997218

NM_000038.6(APC):c.4766G>A (p.Arg1589His)

SNV
Germline

Chr5:112840360

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA009743

rs_374048423

9 SubmittersRCV000115096 RCV000758729 RCV003493442 RCV003997219 RCV002514577

NM_000038.6(APC):c.5017G>A (p.Glu1673Lys)

SNV
Germline

Chr5:112840611

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer
APC-related disorder
Classic or attenuated familial adenomatous polyposis
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA009832

rs_587779796

12 SubmittersRCV000219975 RCV000410427 RCV000758730 RCV003492449 RCV003952545 RCV003997220 RCV001355446

NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)

SNV
Germline

Chr5:112840620

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial multiple polyposis syndrome
Condition: not provided
Colorectal cancer
Familial adenomatous polyposis 1
APC-related disorder
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA009838

rs_370560998

18 SubmittersRCV000115100 RCV000120016 RCV000210376 RCV000587987 RCV000735965 RCV004562262 RCV004739382 RCV001353642

NM_000038.6(APC):c.531+5G>A

SNV
Germline

Chr5:112775742

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA010191

rs_587779798

4 SubmittersRCV000115103 RCV002345412 RCV003337233

NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)

SNV
Germline

Chr5:112841122

Conflicting classifications of pathogenicity

not specified
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Desmoid disease, hereditary
Diffuse midline glioma, H3 K27-altered
6 conditions

Criteria Provided
Conflicting Classifications

CA010490

rs_368080169

20 SubmittersRCV000115104 RCV000202997 RCV000148372 RCV000572635 RCV000679068 RCV005359059 RCV003315229 RCV005042204

NM_000038.6(APC):c.5635G>T (p.Ala1879Ser)

SNV
Germline

Chr5:112841229

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA010547

rs_587779799

13 SubmittersRCV000115105 RCV000204622 RCV000759434 RCV000575966 RCV003997223

NM_000038.6(APC):c.5758C>G (p.Arg1920Gly)

SNV
Germline

Chr5:112841352

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ovarian cancer
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA010637

rs_587779800

7 SubmittersRCV000115106 RCV000562980 RCV003153365 RCV003474709 RCV003997224

NM_000038.6(APC):c.646C>T (p.Arg216Ter)

SNV
Germline/somatic

Chr5:112792446

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hepatocellular carcinoma
Neoplasm of stomach
Familial adenomatous polyposis 1
Carcinoma of colon
Desmoid disease, hereditary
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
6 conditions
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA012198

rs_62619935

16 SubmittersRCV000115111 RCV000223521 RCV000763536 RCV002281931 RCV003460798 RCV003997226 RCV004796021 RCV004668780

NM_000038.6(APC):c.6473C>G (p.Pro2158Arg)

SNV
Germline

Chr5:112842067

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Condition: not provided
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA012210

rs_587779804

13 SubmittersRCV000115112 RCV000122792 RCV000235096 RCV000587692 RCV003997227 RCV003398710

NM_000038.6(APC):c.6691A>T (p.Ile2231Phe)

SNV
Germline

Chr5:112842285

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA012398

rs_534228737

7 SubmittersRCV000115113 RCV000573892 RCV003997228 RCV004562265

NM_000038.6(APC):c.6857C>T (p.Ala2286Val)

SNV
Germline

Chr5:112842451

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Familial colorectal cancer
Condition: not provided
APC-related disorder
Classic or attenuated familial adenomatous polyposis
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA012589

rs_200587641

18 SubmittersRCV000115116 RCV000120028 RCV000122796 RCV000501432 RCV003477493 RCV004739383 RCV004806060 RCV003492450

NM_000038.6(APC):c.7088A>G (p.Lys2363Arg)

SNV
Germline

Chr5:112842682

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA012825

rs_587779806

5 SubmittersRCV000115119 RCV001026018 RCV003997229 RCV004562266

NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)

SNV
Germline

Chr5:112842993

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Condition: not provided
Colorectal cancer
Carcinoma of colon
Hereditary cancer
APC-related disorder

Criteria Provided
Conflicting Classifications

CA013653

rs_372305287

20 SubmittersRCV000115120 RCV000120031 RCV000148360 RCV000590816 RCV000735966 RCV001353987 RCV004700415 RCV004739384

NM_000038.6(APC):c.7570A>G (p.Lys2524Glu)

SNV
Germline

Chr5:112843164

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA013850

rs_143060722

10 SubmittersRCV000115122 RCV000409766 RCV000211934 RCV001201308 RCV003997230

NM_000038.6(APC):c.8261G>A (p.Ser2754Asn)

SNV
Germline

Chr5:112843855

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
not specified
APC-related disorder
Desmoid disease, hereditary
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA014491

rs_369721828

15 SubmittersRCV000115128 RCV000197863 RCV000590250 RCV000722129 RCV003952546 RCV005359061 RCV003997232

NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu)

SNV
Germline

Chr2:214728894

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Familial adenomatous polyposis 2
BARD1-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA331819

rs_149262370

13 SubmittersRCV000115626 RCV000204656 RCV000590177 RCV001355765 RCV003153369 RCV005600671 RCV005055583

NM_001048174.2(MUTYH):c.1486A>T (p.Met496Leu)

SNV
Germline

Chr1:45329386

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA011670

rs_587780080

6 SubmittersRCV000115751 RCV000212722 RCV000233496

NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln)

SNV
Germline

Chr1:45334492

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
not specified
Gastric cancer
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA011787

rs_587780081

14 SubmittersRCV000115752 RCV000230254 RCV000212697 RCV001194162 RCV005025179

NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter)

SNV
Germline

Chr1:45331835

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA011953

rs_587780082

13 SubmittersRCV000115753 RCV000212713 RCV000465024 RCV002498495

NM_001048174.2(MUTYH):c.1409A>G (p.Gln470Arg)

SNV
Germline

Chr1:45330541

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2
Pilomatrixoma
Familial adenomatous polyposis 2
Neoplasm of stomach

Criteria Provided
Conflicting Classifications

CA012941

rs_587780085

10 SubmittersRCV000115760 RCV000212721 RCV000640383 RCV000765173

NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln)

SNV
Germline

Chr1:45329400

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA013025

rs_369410616

10 SubmittersRCV000115761 RCV000123146 RCV000216371 RCV001731381

NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)

SNV
Germline

Chr1:45334493

Pathogenic/Likely pathogenic

Condition: not provided
Carcinoma of colon
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Pilomatrixoma
Familial adenomatous polyposis 2
Neoplasm of stomach
Gastric cancer
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA013854

rs_587780088

12 SubmittersRCV000115767 RCV000144639 RCV000206117 RCV000447652 RCV000763343 RCV005394393 RCV003162540

NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln)

SNV
Germline

Chr1:45332767

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
Pilomatrixoma
Neoplasm of stomach
Familial adenomatous polyposis 2
not specified

Criteria Provided
Conflicting Classifications

CA013903

rs_369677603

13 SubmittersRCV000115768 RCV000168022 RCV000212702 RCV000765176 RCV001192928

NM_001048174.2(MUTYH):c.914-9C>T

SNV
Germline

Chr1:45331858

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Carcinoma of colon
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014799

rs_3219488

16 SubmittersRCV000126894 RCV000448544 RCV000986302 RCV001353610 RCV000590480

NM_000038.6(APC):c.1441G>A (p.Val481Met)

SNV
Germline

Chr5:112827140

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA005150

rs_587780542

14 SubmittersRCV000119171 RCV000164862 RCV000585957 RCV002469015 RCV003997301

NM_000038.6(APC):c.689G>A (p.Arg230His)

SNV
Germline

Chr5:112792489

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA012635

rs_587780545

9 SubmittersRCV000119182 RCV000589003 RCV000579594 RCV005365007

NM_000038.6(APC):c.6525A>G (p.Thr2175=)

SNV
Germline

Chr5:112842119

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
APC-Associated Polyposis Disorders
Condition: not provided
APC-related disorder
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA012255

rs_200151646

14 SubmittersRCV000159521 RCV000254629 RCV000374754 RCV001310856 RCV003915184 RCV004567033 RCV003997303

NM_000038.6(APC):c.3374T>C (p.Val1125Ala)

SNV
Germline

Chr5:112838968

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
not specified
APC-Associated Polyposis Disorders
Neoplasm of the liver
Condition: not provided
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA008333

rs_377278397

16 SubmittersRCV000119206 RCV000130570 RCV000235422 RCV000368182 RCV000677781 RCV000588540 RCV001354303

NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)

SNV
Germline

Chr1:45333449

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA011752

rs_121908380

28 SubmittersRCV000119223 RCV000126890 RCV000177119 RCV000513902 RCV001353596

NM_000038.6(APC):c.4237A>G (p.Met1413Val)

SNV
Germline

Chr5:112839831

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Colorectal adenoma
Condition: not provided
APC-related disorder
Desmoid disease, hereditary

Criteria Provided
Conflicting Classifications

CA009368

rs_141519952

17 SubmittersRCV000120015 RCV000122777 RCV000131786 RCV000148358 RCV000589855 RCV003915187 RCV005359126

NM_000038.6(APC):c.7621A>G (p.Ile2541Val)

SNV
Germline

Chr5:112843215

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA013946

rs_587778033

12 SubmittersRCV000120020 RCV000565915 RCV000589511 RCV004562269

NM_000038.6(APC):c.8273A>G (p.Glu2758Gly)

SNV
Germline

Chr5:112843867

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA014512

rs_371616945

13 SubmittersRCV000120021 RCV000222148 RCV000409341 RCV000767111 RCV003997328

NM_000038.6(APC):c.3875C>T (p.Thr1292Met)

SNV
Germline

Chr5:112839469

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA008722

rs_371113837

14 SubmittersRCV000120026 RCV000129039 RCV000198586 RCV000657042 RCV005359127

NM_000038.6(APC):c.6754C>G (p.Pro2252Ala)

SNV
Germline

Chr5:112842348

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA012481

rs_587778035

5 SubmittersRCV000120027 RCV005384653 RCV003764835

NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)

SNV
Germline

Chr5:112843084

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Condition: not provided
Familial adenomatous polyposis 1
Desmoid disease, hereditary

Criteria Provided
Conflicting Classifications

CA013717

rs_141010008

20 SubmittersRCV000120032 RCV000131590 RCV001153055 RCV000587624 RCV004562271 RCV005359128

NM_000038.6(APC):c.7832C>T (p.Thr2611Ile)

SNV
Germline

Chr5:112843426

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1
Colon adenocarcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA014100

rs_587778037

12 SubmittersRCV000120033 RCV000230402 RCV000677760 RCV000774673 RCV000586315 RCV003997330

NM_000038.6(APC):c.3007G>A (p.Asp1003Asn)

SNV
Germline

Chr5:112838601

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA007992

rs_564314108

10 SubmittersRCV000120035 RCV000568678 RCV001775597 RCV004019666 RCV005359129 RCV003997331

NM_000038.6(APC):c.6907G>A (p.Gly2303Arg)

SNV
Germline

Chr5:112842501

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA012645

rs_544549596

13 SubmittersRCV000120043 RCV000546435 RCV000574195 RCV001356898 RCV003997334

NM_000038.6(APC):c.8146G>C (p.Val2716Leu)

SNV
Germline

Chr5:112843740

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA014405

rs_587778044

7 SubmittersRCV000120045 RCV000166038 RCV000767040 RCV002515816 RCV003997336

NM_000038.6(APC):c.8332G>T (p.Ala2778Ser)

SNV
Germline

Chr5:112843926

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Neoplasm of the liver
Hepatocellular carcinoma
Intrahepatic cholangiocarcinoma
Condition: not provided
APC-related disorder
Familial adenomatous polyposis 1
Desmoid disease, hereditary

Criteria Provided
Conflicting Classifications

CA014561

rs_587778046

12 SubmittersRCV000120047 RCV000163521 RCV000199434 RCV000677785 RCV000677786 RCV000677787 RCV001704030 RCV003952585 RCV005359131

NM_000038.6(APC):c.385G>C (p.Glu129Gln)

SNV
Germline

Chr5:112767353

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Desmoid disease, hereditary
APC-related disorder

Criteria Provided
Conflicting Classifications

CA008713

rs_376628500

15 SubmittersRCV000120050 RCV000196705 RCV000216893 RCV000589545 RCV005359132 RCV004739410

NM_001048174.2(MUTYH):c.752A>C (p.Asn251Thr)

SNV
Germline

Chr1:45332263

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014438

rs_587778534

9 SubmittersRCV000121590 RCV000491219 RCV000410208 RCV000985864

NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)

SNV
Germline

Chr1:45332035

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
Pilomatrixoma
Neoplasm of stomach
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA014772

rs_147718169

18 SubmittersRCV000121592 RCV000129011 RCV000205715 RCV000656910 RCV000515294

NM_001048174.2(MUTYH):c.953C>T (p.Ser318Leu)

SNV
Germline

Chr1:45331810

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA012017

rs_587778538

11 SubmittersRCV000121595 RCV000123137 RCV000216934 RCV001582593

NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)

SNV
Germline

Chr1:45330526

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
Hereditary cancer
MUTYH-related disorder
Gastric cancer
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA012960

rs_3219494

17 SubmittersRCV000121600 RCV000130413 RCV000195990 RCV000585961 RCV003492527 RCV004528833 RCV002498570

NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)

SNV
Germline

Chr1:45329409

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA012986

rs_587778542

10 SubmittersRCV000121602 RCV000131522 RCV000457983 RCV000656914

NM_000038.6(APC):c.2593C>T (p.Pro865Ser)

SNV
Germline

Chr5:112838187

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
APC-Associated Polyposis Disorders
Condition: not provided
Gardner syndrome
APC-related attenuated familial adenomatous polyposis
not specified
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA007632

rs_192620988

18 SubmittersRCV000122764 RCV000131163 RCV000238728 RCV000348086 RCV000587302 RCV005359147 RCV002228418 RCV003492529

NM_000038.6(APC):c.263G>A (p.Arg88Gln)

SNV
Germline

Chr5:112767231

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA007680

rs_587780592

7 SubmittersRCV000122766 RCV000413883 RCV000566722

NM_000038.6(APC):c.2658G>T (p.Gln886His)

SNV
Germline

Chr5:112838252

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
not specified
Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
APC-Associated Polyposis Disorders
Classic or attenuated familial adenomatous polyposis
Gastric adenocarcinoma and proximal polyposis of the stomach

Criteria Provided
Conflicting Classifications

CA007712

rs_587780593

12 SubmittersRCV000122768 RCV000485846 RCV000574171 RCV000664308 RCV001157044 RCV003997374 RCV003325185

NM_000038.6(APC):c.3628C>T (p.His1210Tyr)

SNV
Germline

Chr5:112839222

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA008571

rs_145181563

9 SubmittersRCV000129238 RCV001357972 RCV002515908 RCV003997376

NM_000038.6(APC):c.4249A>C (p.Ile1417Leu)

SNV
Germline

Chr5:112839843

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
not specified

Criteria Provided
Conflicting Classifications

CA009397

rs_200166878

9 SubmittersRCV000122779 RCV000235379 RCV000575531 RCV003997378 RCV001193569

NM_000038.6(APC):c.4333A>G (p.Thr1445Ala)

SNV
Germline

Chr5:112839927

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009444

rs_587780597

9 SubmittersRCV000122780 RCV000567758 RCV001284708

NM_000038.6(APC):c.4525C>T (p.Leu1509=)

SNV
Germline

Chr5:112840119

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009609

rs_572839648

7 SubmittersRCV001022639 RCV001284712 RCV003764852 RCV003997379

NM_000038.6(APC):c.5009C>T (p.Ala1670Val)

SNV
Germline

Chr5:112840603

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA009818

rs_202228932

17 SubmittersRCV000122783 RCV000128987 RCV000236885 RCV000586353 RCV001353632

NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)

SNV
Germline

Chr5:112840734

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
APC-related disorder

Criteria Provided
Conflicting Classifications

CA009886

rs_148275069

17 SubmittersRCV000122784 RCV000479916 RCV000587086 RCV000129088 RCV001157159 RCV003389701

NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)

SNV
Germline

Chr5:112841395

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
not specified
Colorectal cancer, susceptibility to
Familial multiple polyposis syndrome
Condition: not provided
APC-Associated Polyposis Disorders
Carcinoma of colon
Desmoid disease, hereditary
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
APC-related disorder
Hereditary cancer
Classic or attenuated familial adenomatous polyposis
6 conditions

Criteria Provided
Conflicting Classifications

CA010706

rs_587780600

19 SubmittersRCV000122787 RCV000159562 RCV000211923 RCV000210078 RCV000210900 RCV000656747 RCV001155575 RCV000764567 RCV003398739 RCV005235024 RCV005359149 RCV005031631

NM_000038.6(APC):c.6985A>G (p.Ile2329Val)

SNV
Germline

Chr5:112842579

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal adenoma
not specified
Familial adenomatous polyposis 1
Condition: not provided
APC-Associated Polyposis Disorders
Ovarian cancer
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA012738

rs_146048493

16 SubmittersRCV000131625 RCV000148359 RCV000211933 RCV000987581 RCV001719892 RCV001151806 RCV003153405 RCV004806072 RCV003905173

NM_000038.6(APC):c.7625A>G (p.Asn2542Ser)

SNV
Germline

Chr5:112843219

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA013956

rs_151163793

11 SubmittersRCV000122802 RCV000235882 RCV000766452 RCV000575243 RCV003997387

NM_000038.6(APC):c.777G>T (p.Arg259=)

SNV
Germline

Chr5:112801326

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
APC-Associated Polyposis Disorders
Carcinoma of colon
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA014042

rs_147704593

14 SubmittersRCV000123678 RCV000759445 RCV000211894 RCV001151508 RCV001353450 RCV003997388 RCV004019702

NM_000038.6(APC):c.8162G>A (p.Arg2721His)

SNV
Germline

Chr5:112843756

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA014419

rs_587780606

8 SubmittersRCV000218426 RCV000479454 RCV003997389 RCV003474735

NM_000038.6(APC):c.8266A>G (p.Ile2756Val)

SNV
Germline

Chr5:112843860

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Colorectal adenoma
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
APC-Associated Polyposis Disorders
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA014501

rs_146115809

17 SubmittersRCV000122809 RCV000148374 RCV000587542 RCV000493019 RCV001549270 RCV001157355 RCV005365010 RCV003153406

NM_000038.6(APC):c.8524T>G (p.Ser2842Ala)

SNV
Germline

Chr5:112844118

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA015593

rs_587780610

7 SubmittersRCV000122813 RCV001017958 RCV003997392 RCV003415925

NM_000038.6(APC):c.883A>G (p.Ser295Gly)

SNV
Germline

Chr5:112815543

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Ovarian cancer
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA015623

rs_587780611

8 SubmittersRCV000213708 RCV001192830 RCV001778740 RCV003153407 RCV004567057

NM_001048174.2(MUTYH):c.1102+9A>T

SNV
Germline

Chr1:45331652

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA012236

rs_587780742

15 SubmittersRCV000123140 RCV000129212 RCV000431410 RCV000589767

NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr)

SNV
Germline

Chr1:45331488

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Pilomatrixoma
Neoplasm of stomach
Familial adenomatous polyposis 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA012424

rs_587780744

13 SubmittersRCV000123142 RCV000130485 RCV000515285 RCV000590647 RCV001175350

NM_001048174.2(MUTYH):c.184G>A (p.Val62Ile)

SNV
Germline

Chr1:45333493

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA013287

rs_375526246

5 SubmittersRCV000123148 RCV000213878

NM_001048174.2(MUTYH):c.229G>A (p.Asp77Asn)

SNV
Germline

Chr1:45333448

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA013355

rs_587780746

16 SubmittersRCV000131617 RCV000123149 RCV000609799 RCV000759161

NM_001128425.2(MUTYH):c.38C>T (p.Ala13Val)

SNV
Germline

Chr1:45334510

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
not specified
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Conflicting Classifications

CA013492

rs_587780747

10 SubmittersRCV000131635 RCV000123150 RCV000485844 RCV001260346 RCV005394451

NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)

SNV
Germline

Chr1:45332479

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Gastric cancer
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA014145

rs_200165598

20 SubmittersRCV000123153 RCV000212704 RCV000131773 RCV000586141 RCV005016424

NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)

SNV
Germline

Chr1:45332443

Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Pilomatrixoma
Gastric cancer
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA014236

rs_587780749

16 SubmittersRCV000123154 RCV000131615 RCV000212707 RCV001292933 RCV005025203

NM_001048174.2(MUTYH):c.849+3A>C

SNV
Germline

Chr1:45332163

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Colon cancer
MUTYH-related disorder
Carcinoma of colon
Gastric cancer
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA014676

rs_587780751

28 SubmittersRCV000123158 RCV000129539 RCV000212711 RCV000626760 RCV004542929 RCV001353438 RCV005016425

NM_001128425.2(MUTYH):c.42C>T (p.Ile14=)

SNV
Germline

Chr1:45334506

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Carcinoma of colon
Condition: not provided

Criteria Provided
Conflicting Classifications

CA011900

rs_202240122

11 SubmittersRCV000126888 RCV000204527 RCV000212696 RCV001355457 RCV001800419

NM_001048174.2(MUTYH):c.116-54C>T

SNV
Germline

Chr1:45333615

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA013081

rs_367908623

6 SubmittersRCV000409930 RCV000579849 RCV000126889

NM_001048174.2(MUTYH):c.421-4A>G

SNV
Germline

Chr1:45332838

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA013701

rs_201678305

15 SubmittersRCV000129020 RCV000196799 RCV000212701 RCV000759163

NM_001048174.2(MUTYH):c.1166G>A (p.Arg389His)

SNV
Germline

Chr1:45331493

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
not specified
Gastric cancer
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA012406

rs_373803765

8 SubmittersRCV000128948 RCV000461545 RCV001582599 RCV003235050 RCV002478383

NM_000038.6(APC):c.7468G>A (p.Asp2490Asn)

SNV
Germline

Chr5:112843062

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Familial adenomatous polyposis 1
Condition: not provided
not specified
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA013697

rs_538230198

13 SubmittersRCV000128974 RCV000481415 RCV000409539 RCV000656750 RCV001731385 RCV003407537 RCV003997468

NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter)

SNV
Germline

Chr1:45333166

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA013516

rs_587781295

7 SubmittersRCV000128998 RCV000521741 RCV001068416

NM_001048174.2(MUTYH):c.397G>C (p.Asp133His)

SNV
Germline

Chr1:45332941

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Condition: not provided
MUTYH-related disorder

Criteria Provided
Conflicting Classifications

CA013648

rs_564930066

16 SubmittersRCV000129002 RCV000204817 RCV000481844 RCV000656908 RCV004532541

NM_001048174.2(MUTYH):c.1219C>T (p.His407Tyr)

SNV
Germline

Chr1:45331440

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2
not specified

Criteria Provided
Conflicting Classifications

CA012561

rs_141432759

8 SubmittersRCV000129005 RCV000587968 RCV000410796 RCV004525829

NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter)

SNV
Germline

Chr1:45333472

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA013297

rs_138775799

12 SubmittersRCV000129018 RCV000235267 RCV000471769 RCV005394466

NM_000038.6(APC):c.6977G>A (p.Arg2326Gln)

SNV
Germline

Chr5:112842571

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
APC-related attenuated familial adenomatous polyposis
Gastric adenocarcinoma and proximal polyposis of the stomach
not specified

Criteria Provided
Conflicting Classifications

CA012730

rs_531178000

13 SubmittersRCV000129062 RCV000480098 RCV003325186 RCV003997477 RCV001824638 RCV002271411

NM_001048174.2(MUTYH):c.1102+1G>A

SNV
Germline

Chr1:45331660

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
MUTYH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA012227

rs_587781337

9 SubmittersRCV000129098 RCV000503838 RCV001353653 RCV004532544

NM_001048174.2(MUTYH):c.856C>T (p.Gln286Ter)

SNV
Germline

Chr1:45332080

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA014709

rs_587781338

5 SubmittersRCV000129103 RCV000527702 RCV000478448

NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)

SNV
Germline

Chr1:45332445

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
Pilomatrixoma
Neoplasm of stomach
Familial adenomatous polyposis 2
Breast carcinoma
Carcinoma of colon
Diffuse midline glioma, H3 K27-altered
MUTYH-related disorder
Gastric cancer
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA014226

rs_140342925

28 SubmittersRCV000129105 RCV000196778 RCV000212706 RCV000515198 RCV001262379 RCV001353906 RCV003313780 RCV004532545 RCV005016430

NM_000038.6(APC):c.4055T>C (p.Val1352Ala)

SNV
Germline

Chr5:112839649

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
Familial adenomatous polyposis 1
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA008875

rs_528724202

9 SubmittersRCV000129128 RCV001704052 RCV003153412 RCV000646425 RCV000483615 RCV003997481

NM_000038.6(APC):c.5257G>C (p.Ala1753Pro)

SNV
Germline

Chr5:112840851

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009970

rs_587781350

8 SubmittersRCV000129133 RCV002514711 RCV003997484

NM_000038.6(APC):c.1895T>C (p.Ile632Thr)

SNV
Germline

Chr5:112835102

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA006270

rs_587781360

8 SubmittersRCV000129152 RCV000211901 RCV001778746 RCV002514712 RCV003997485

NM_000038.6(APC):c.637C>T (p.Arg213Ter)

SNV
Germline/somatic

Chr5:112780895

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Neoplasm of stomach
Desmoid disease, hereditary
Carcinoma of colon
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Familial multiple polyposis syndrome
Carcinoma of colon
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA011131

rs_587781392

11 SubmittersRCV000129233 RCV000202175 RCV000763535 RCV002512529 RCV000825611 RCV001353439 RCV004668789

NM_000038.6(APC):c.8146G>A (p.Val2716Met)

SNV
Germline

Chr5:112843740

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014393

rs_587778044

6 SubmittersRCV000129235 RCV000206635 RCV003148656

NM_000038.6(APC):c.5290C>G (p.Gln1764Glu)

SNV
Germline

Chr5:112840884

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Colorectal cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010025

rs_529543591

8 SubmittersRCV000129346 RCV000206391 RCV000677788 RCV004589623

NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)

SNV
Germline

Chr5:112843977

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal adenoma
not specified
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015437

rs_369264968

15 SubmittersRCV000129383 RCV000148362 RCV000235766 RCV000410318 RCV000657075

NM_000038.6(APC):c.2780C>G (p.Ala927Gly)

SNV
Germline

Chr5:112838374

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Condition: not provided
not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA007779

rs_587781500

10 SubmittersRCV000129473 RCV003997504 RCV000483264 RCV000779714 RCV002514719

NM_001048174.2(MUTYH):c.836G>A (p.Arg279Gln)

SNV
Germline

Chr1:45332179

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2
not specified

Criteria Provided
Conflicting Classifications

CA014631

rs_140156029

9 SubmittersRCV000129507 RCV000586807 RCV000467096 RCV000484904

NM_000038.6(APC):c.5879C>T (p.Pro1960Leu)

SNV
Germline

Chr5:112841473

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
APC-Associated Polyposis Disorders
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA010760

rs_587781546

13 SubmittersRCV000129560 RCV000411270 RCV000985310 RCV001155576 RCV003997510

NM_000038.6(APC):c.4072G>A (p.Ala1358Thr)

SNV
Germline

Chr5:112839666

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Condition: not provided
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA008897

rs_139618756

15 SubmittersRCV000129585 RCV000167896 RCV000211912 RCV000588058 RCV004739432 RCV003997513

NM_000038.6(APC):c.854A>G (p.Asp285Gly)

SNV
Germline

Chr5:112815514

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
6 conditions
Classic or attenuated familial adenomatous polyposis
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA015607

rs_201093383

10 SubmittersRCV000129720 RCV000211896 RCV000229223 RCV002478388 RCV003997520 RCV005359212

NM_001048174.2(MUTYH):c.1103-2A>G

SNV
Germline

Chr1:45331558

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Familial adenomatous polyposis 2
Condition: not provided
Gastric cancer
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA012245

rs_587781628

15 SubmittersRCV000129730 RCV000172819 RCV000338621 RCV000480885 RCV002478389

NM_000038.6(APC):c.3824G>C (p.Ser1275Thr)

SNV
Germline

Chr5:112839418

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
not specified
APC-related disorder

Criteria Provided
Conflicting Classifications

CA008695

rs_587781637

11 SubmittersRCV000129750 RCV000211911 RCV000412401 RCV003997521 RCV001818303 RCV003407543

NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)

SNV
Germline

Chr5:112843983

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
APC-Associated Polyposis Disorders
Condition: not provided
Hepatocellular carcinoma
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Neoplasm of stomach
Carcinoma of colon
not specified
Desmoid disease, hereditary

Criteria Provided
Conflicting Classifications

CA015444

rs_147287751

17 SubmittersRCV000129949 RCV000198030 RCV000283075 RCV000656753 RCV000515282 RCV002267871 RCV005359221

NM_000038.6(APC):c.220+2T>A

SNV
Germline

Chr5:112766412

Pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Condition: not provided
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA007244

rs_587781809

10 SubmittersRCV000130080 RCV000503701 RCV000202191 RCV005415550 RCV004562290

NM_000038.6(APC):c.4478C>T (p.Thr1493Met)

SNV
Germline

Chr5:112840072

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009574

rs_374892194

12 SubmittersRCV000130087 RCV000228695 RCV000590777 RCV003997547

NM_000038.6(APC):c.7858T>A (p.Phe2620Ile)

SNV
Germline

Chr5:112843452

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA014111

rs_587781816

11 SubmittersRCV000130090 RCV000195856 RCV000485276 RCV001797633 RCV003997549

NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp)

SNV
Germline

Chr1:45332791

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
Colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA013822

rs_587781864

10 SubmittersRCV000130180 RCV000456187 RCV000519177 RCV004698338

NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr)

SNV
Germline

Chr1:45331241

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial colorectal cancer type X
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Conflicting Classifications

CA012742

rs_192816572

16 SubmittersRCV000198237 RCV000130207 RCV000212718 RCV000656912 RCV005359229 RCV002505107

NM_000038.6(APC):c.6639G>A (p.Met2213Ile)

SNV
Germline

Chr5:112842233

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Hepatocellular carcinoma
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Neoplasm of stomach
Carcinoma of colon
APC-Associated Polyposis Disorders
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA012330

rs_35540155

12 SubmittersRCV000130211 RCV000409211 RCV000484737 RCV000765788 RCV001157265 RCV002222403 RCV005359230

NM_000038.6(APC):c.6782C>T (p.Pro2261Leu)

SNV
Germline

Chr5:112842376

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA012518

rs_376494248

11 SubmittersRCV000130294 RCV000255155 RCV000410458 RCV001192912 RCV003998052

NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)

SNV
Germline

Chr5:112839219

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
APC-Associated Polyposis Disorders
not specified
Hereditary cancer
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA008564

rs_201185479

14 SubmittersRCV000130302 RCV000198440 RCV000236652 RCV001154640 RCV003479014 RCV003492599 RCV003998054 RCV004739443

NM_000038.6(APC):c.8276G>A (p.Arg2759His)

SNV
Germline

Chr5:112843870

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Neoplasm of stomach
Desmoid disease, hereditary
Carcinoma of colon
Hepatocellular carcinoma
APC-related disorder
Familial adenomatous polyposis 1
Condition: not provided
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA014525

rs_538289470

10 SubmittersRCV000130304 RCV000765791 RCV003430706 RCV003764867 RCV001549810 RCV002469020 RCV003998055

NM_000038.6(APC):c.3426T>A (p.Asn1142Lys)

SNV
Germline

Chr5:112839020

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA008381

rs_375478525

6 SubmittersRCV000130415 RCV000235983 RCV003998057 RCV004562294

NM_001048174.2(MUTYH):c.1172C>A (p.Ala391Asp)

SNV
Germline

Chr1:45331487

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA012438

rs_369299948

11 SubmittersRCV000130546 RCV000408991 RCV000759155 RCV003987370

NM_001128425.2(MUTYH):c.158-2A>G

SNV
Germline

Chr1:45333605

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA011716

rs_587782066

3 SubmittersRCV000130550 RCV000792075

NM_000038.6(APC):c.646C>G (p.Arg216Gly)

SNV
Germline

Chr5:112792446

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
6 conditions

Criteria Provided
Conflicting Classifications

CA012188

rs_62619935

3 SubmittersRCV000130641 RCV003764868 RCV005031639

NM_000038.6(APC):c.449A>G (p.Lys150Arg)

SNV
Germline

Chr5:112775655

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Colorectal adenoma
not specified
Condition: not provided
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009591

rs_371085910

17 SubmittersRCV000130643 RCV000206082 RCV000148370 RCV000211892 RCV000656744 RCV004739446 RCV003998072

NM_000038.6(APC):c.5690A>C (p.His1897Pro)

SNV
Germline

Chr5:112841284

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
APC-related disorder

Criteria Provided
Conflicting Classifications

CA010592

rs_112610898

13 SubmittersRCV000130647 RCV000198116 RCV000586043 RCV003905232

NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln)

SNV
Germline

Chr1:45331433

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA012591

rs_587782120

9 SubmittersRCV000130651 RCV000234150 RCV000587516 RCV001290443

NM_001048174.2(MUTYH):c.882C>G (p.Ser294Arg)

SNV
Germline

Chr1:45332054

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014745

rs_138833473

6 SubmittersRCV000130715 RCV000410968 RCV001564902

NM_001048174.2(MUTYH):c.367G>A (p.Gly123Arg)

SNV
Germline

Chr1:45333108

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA013601

rs_587782165

3 SubmittersRCV000130757 RCV000688220

NM_000038.6(APC):c.3691C>G (p.Leu1231Val)

SNV
Germline

Chr5:112839285

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA008636

rs_573020080

6 SubmittersRCV000130799 RCV000484966 RCV002514736 RCV003998080

NM_000038.6(APC):c.6637A>G (p.Met2213Val)

SNV
Germline

Chr5:112842231

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer
APC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA012319

rs_186926737

11 SubmittersRCV000130848 RCV000409644 RCV000236813 RCV003492605 RCV003905234 RCV001174857

NM_001048174.2(MUTYH):c.517A>G (p.Met173Val)

SNV
Germline

Chr1:45332663

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA013944

rs_587782258

2 SubmittersRCV000130971 RCV003998085

NM_000038.6(APC):c.423-3T>A

SNV
Germline

Chr5:112775626

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA009307

rs_587782293

9 SubmittersRCV000131175 RCV000686573 RCV001353717

NM_000455.5(STK11):c.1012G>A (p.Val338Met)

SNV
Germline

Chr19:1223076

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
Generalized juvenile polyposis/juvenile polyposis coli
Carcinoma of pancreas
Peutz-Jeghers syndrome
Malignant tumor of testis
Familial adenomatous polyposis 2
STK11-related disorder

Criteria Provided
Conflicting Classifications

CA022150

rs_587782302

14 SubmittersRCV000131186 RCV000168376 RCV000222337 RCV001354464 RCV000765433 RCV002243796 RCV003407552

NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)

SNV
Germline

Chr5:112840359

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Diffuse midline glioma, H3 K27-altered
Gastric cancer
not specified
Classic or attenuated familial adenomatous polyposis
APC-Associated Polyposis Disorders
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA009730

rs_72541813

20 SubmittersRCV000131191 RCV000211915 RCV000232313 RCV003325188 RCV005359254 RCV001818321 RCV003998088 RCV001157157 RCV003492615

NM_000038.6(APC):c.3205A>G (p.Arg1069Gly)

SNV
Germline

Chr5:112838799

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA008168

rs_375408871

9 SubmittersRCV000131243 RCV000230602 RCV000758727 RCV003998093 RCV004700448

NM_000038.6(APC):c.4918C>T (p.Arg1640Trp)

SNV
Germline

Chr5:112840512

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
not specified
Classic or attenuated familial adenomatous polyposis
6 conditions

Criteria Provided
Conflicting Classifications

CA009806

rs_373440614

17 SubmittersRCV000131255 RCV000148368 RCV000587871 RCV001175337 RCV003998094 RCV005031641

NM_000038.6(APC):c.4441G>A (p.Val1481Ile)

SNV
Germline

Chr5:112840035

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA009548

rs_587782349

3 SubmittersRCV000131289 RCV004562300

NM_000038.6(APC):c.848G>A (p.Arg283Gln)

SNV
Germline

Chr5:112815508

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
not specified
APC-related disorder
Gardner syndrome

Criteria Provided
Conflicting Classifications

CA015555

rs_149154604

12 SubmittersRCV000131302 RCV000167872 RCV000211895 RCV000779725 RCV003925279 RCV005359259

NM_001048174.2(MUTYH):c.83A>G (p.Asn28Ser)

SNV
Germline

Chr1:45334423

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA012458

rs_563275223

7 SubmittersRCV000131452 RCV000824066 RCV001194163 RCV004719710

NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)

SNV
Germline

Chr1:45330550

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Condition: not provided
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA012925

rs_144111588

16 SubmittersRCV000131561 RCV000231615 RCV000236240 RCV000656913 RCV001353893

NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)

SNV
Germline

Chr5:112843380

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014059

rs_138137162

14 SubmittersRCV000131566 RCV000229880 RCV000478677 RCV000656752

NM_000038.6(APC):c.6679G>T (p.Gly2227Cys)

SNV
Germline

Chr5:112842273

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Colorectal cancer, susceptibility to
Condition: not provided
APC-related disorder
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
Desmoid disease, hereditary

Criteria Provided
Conflicting Classifications

CA012371

rs_367905430

15 SubmittersRCV000131588 RCV000211929 RCV000234415 RCV000210106 RCV000590651 RCV004739454 RCV003998109 RCV005359274

NM_000038.6(APC):c.6249A>G (p.Ile2083Met)

SNV
Germline

Chr5:112841843

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA011046

rs_374625279

7 SubmittersRCV000131598 RCV000759439 RCV002512548 RCV003998112

NM_000038.6(APC):c.4216C>T (p.Gln1406Ter)

SNV
Germline

Chr5:112839810

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008967

rs_587782518

3 SubmittersRCV000131673 RCV004562301

NM_001048174.2(MUTYH):c.1239G>A (p.Glu413=)

SNV
Germline

Chr1:45331420

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA012624

rs_587782564

7 SubmittersRCV000131785 RCV000462220 RCV000579114 RCV005417970

NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)

SNV
Germline

Chr1:45331529

Pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Familial adenomatous polyposis 2
Condition: not provided
B lymphoblastic leukemia lymphoma, no ICD-O subtype
Gastric cancer
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA012325

rs_529008617

26 SubmittersRCV000131914 RCV000144633 RCV000191934 RCV000413961 RCV000722033 RCV002492514

NM_000038.6(APC):c.4349G>A (p.Arg1450Gln)

SNV
Germline

Chr5:112839943

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009471

rs_587782678

7 SubmittersRCV000132104 RCV000590671 RCV002514750 RCV002265621 RCV003998132

NM_001048174.2(MUTYH):c.263G>A (p.Arg88Gln)

SNV
Germline

Chr1:45333414

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Pilomatrixoma
Familial adenomatous polyposis 2
Neoplasm of stomach
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA013393

rs_587782683

8 SubmittersRCV000132110 RCV000197990 RCV000515197 RCV000479477 RCV000780501

NM_001048174.2(MUTYH):c.842G>A (p.Arg281His)

SNV
Germline

Chr1:45332173

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified

Criteria Provided
Conflicting Classifications

CA014653

rs_587782727

5 SubmittersRCV000132221 RCV000640388 RCV005229971

NM_001048174.2(MUTYH):c.420+2T>C

SNV
Germline

Chr1:45332916

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA013687

rs_587782730

4 SubmittersRCV000132227 RCV000530394

NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp)

SNV
Germline

Chr1:45333415

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Condition: not provided
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA013382

rs_373766973

9 SubmittersRCV000132238 RCV000195451 RCV000212698 RCV000656907 RCV001353576

NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr)

SNV
Germline

Chr1:45340238

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 2
Condition: not provided
Gastric cancer
Familial adenomatous polyposis 2
MUTYH-related disorder

Criteria Provided
Conflicting Classifications

CA011733

rs_587782837

11 SubmittersRCV000132425 RCV000212695 RCV000458224 RCV000656906 RCV002483273 RCV004739462

NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)

SNV
Germline

Chr1:45332440

Pathogenic

Carcinoma of colon
Familial adenomatous polyposis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA014247

rs_587782885

16 SubmittersRCV000144630 RCV000500909 RCV000236829 RCV000132522 RCV003162593

NM_000038.6(APC):c.1139G>A (p.Arg380Gln)

SNV
Germline

Chr5:112819171

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Condition: not provided
APC-related disorder

Criteria Provided
Conflicting Classifications

CA004061

rs_587782886

12 SubmittersRCV000132523 RCV000168435 RCV000722127 RCV000586652 RCV003891672

NM_000038.6(APC):c.3286C>T (p.Gln1096Ter)

SNV
Germline

Chr5:112838880

Pathogenic

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008233

rs_587783029

7 SubmittersRCV000144563 RCV000202095 RCV000563288

NM_000038.6(APC):c.1685C>T (p.Thr562Met)

SNV
Germline

Chr5:112828914

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA005437

rs_587783034

9 SubmittersRCV000222854 RCV000485323 RCV000766534 RCV000144570 RCV003998159

NM_000038.6(APC):c.1744-2A>G

SNV
Germline

Chr5:112834949

Pathogenic

Familial adenomatous polyposis 1
Carcinoma of colon
Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA005882

rs_587783035

9 SubmittersRCV000144573 RCV000500538 RCV001012984 RCV002281962 RCV003321518

NM_000038.6(APC):c.7550A>G (p.Tyr2517Cys)

SNV
Germline

Chr5:112843144

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA013809

rs_587783036

12 SubmittersRCV000144574 RCV000572226 RCV000759443 RCV003492634 RCV003998160 RCV004739467

NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)

SNV
Germline

Chr1:45331676

Pathogenic

Carcinoma of colon
Familial adenomatous polyposis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast carcinoma
Familial colorectal cancer
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA012199

rs_587783057

18 SubmittersRCV000144635 RCV000410310 RCV000413062 RCV000569738 RCV001572626 RCV002221498 RCV003162600

NM_000038.6(APC):c.2847G>T (p.Met949Ile)

SNV
Germline

Chr5:112838441

Conflicting classifications of pathogenicity

Colorectal adenoma
not specified
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
APC-related disorder

Criteria Provided
Conflicting Classifications

CA007863

rs_147394539

12 SubmittersRCV000148363 RCV000159544 RCV000168133 RCV000567920 RCV001704072 RCV003917461

NM_000038.6(APC):c.7778A>G (p.Asn2593Ser)

SNV
Germline

Chr5:112843372

Conflicting classifications of pathogenicity

Colorectal adenoma
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Colorectal cancer
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA014033

rs_367676584

10 SubmittersRCV000148361 RCV000215340 RCV000458485 RCV000483957 RCV001199001 RCV003998166

NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu)

SNV
Germline

Chr1:45332049

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
not specified
Gastric cancer
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA014753

rs_558173961

11 SubmittersRCV000213585 RCV000552627 RCV000766300 RCV001844058 RCV005025249

NM_001048174.2(MUTYH):c.834C>G (p.Cys278Trp)

SNV
Germline

Chr1:45332181

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA014594

rs_730881834

7 SubmittersRCV000160756 RCV000573806 RCV000474320

NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)

SNV
Germline

Chr1:45332242

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Gastric cancer
Gastric cancer
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA014470

rs_730881833

15 SubmittersRCV000160754 RCV000191933 RCV000221854 RCV003162678 RCV004796056

NM_001048174.2(MUTYH):c.729C>T (p.Asp243=)

SNV
Germline

Chr1:45332286

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Condition: not provided
MUTYH-related disorder

Criteria Provided
Conflicting Classifications

CA014358

rs_730881838

11 SubmittersRCV000160762 RCV000206540 RCV000212708 RCV001091841 RCV004535047

NM_001048174.2(MUTYH):c.635C>T (p.Ala212Val)

SNV
Germline

Chr1:45332460

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2
not specified

Criteria Provided
Conflicting Classifications

CA014186

rs_369120013

8 SubmittersRCV000160753 RCV000656909 RCV000458598 RCV003987380

NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)

SNV
Germline

Chr1:45332794

Pathogenic

Condition: not provided
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
not specified
MUTYH-related disorder
Gastric cancer
Familial adenomatous polyposis 2
Familial colorectal cancer type X

Criteria Provided
Multiple Submitters
No Conflicts

CA013795

rs_143353451

16 SubmittersRCV000160752 RCV000200700 RCV000214896 RCV000508179 RCV004535046 RCV002478487 RCV005359377

NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg)

SNV
Germline

Chr1:45333168

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA013507

rs_730881832

9 SubmittersRCV000160751 RCV000212700 RCV000701601 RCV005394560

NM_001128425.2(MUTYH):c.36+20C>A

SNV
Germline

Chr1:45340199

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA013432

rs_540793556

4 SubmittersRCV000160750 RCV000412343 RCV000776104

NM_000038.6(APC):c.288T>A (p.Tyr96Ter)

SNV
Germline

Chr5:112767256

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007872

rs_376213437

8 SubmittersRCV000159585 RCV001016886 RCV003323417 RCV002515106

NM_000038.6(APC):c.296G>A (p.Arg99Gln)

SNV
Germline

Chr5:112767264

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA007959

rs_199842850

11 SubmittersRCV000197478 RCV003998427 RCV000491566 RCV000585993

NM_000038.6(APC):c.423-1G>C

SNV
Germline

Chr5:112775628

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA009194

rs_397514031

4 SubmittersRCV000202202 RCV002326915 RCV002516422

NM_000038.6(APC):c.450A>G (p.Lys150=)

SNV
Germline

Chr5:112775656

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Condition: not provided
APC-Associated Polyposis Disorders
Carcinoma of colon
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009598

rs_116020626

18 SubmittersRCV000159527 RCV000211893 RCV000199795 RCV000759433 RCV001156933 RCV001353868 RCV003998400

NM_000038.6(APC):c.918T>G (p.Ser306Arg)

SNV
Germline

Chr5:112815578

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Classic or attenuated familial adenomatous polyposis
APC-related disorder
Gardner syndrome
APC-related attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA015653

rs_730881231

12 SubmittersRCV000159528 RCV000217691 RCV000466236 RCV000779736 RCV003998401 RCV004739486 RCV005359334

NM_000038.6(APC):c.1241G>A (p.Arg414His)

SNV
Germline

Chr5:112819273

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
not specified
6 conditions
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA004108

rs_730881233

13 SubmittersRCV000159530 RCV000227001 RCV000568544 RCV000779739 RCV002484993 RCV003998402 RCV004739487

NM_000038.6(APC):c.1291A>G (p.Met431Val)

SNV
Germline

Chr5:112819323

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA004131

rs_730881235

9 SubmittersRCV000159532 RCV000230899 RCV000579996 RCV000656745 RCV003998404

NM_000038.6(APC):c.1391A>G (p.His464Arg)

SNV
Germline

Chr5:112821974

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA004890

rs_730881236

6 SubmittersRCV000159533 RCV000217103 RCV000795734 RCV003998405

NM_000038.6(APC):c.1904G>C (p.Gly635Ala)

SNV
Germline

Chr5:112835111

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA006287

rs_730881239

8 SubmittersRCV000159537 RCV000491278 RCV000766428 RCV001353861 RCV003998407 RCV004562319

NM_000038.6(APC):c.1987C>T (p.Gln663Ter)

SNV
Germline

Chr5:112837581

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007124

rs_730881240

6 SubmittersRCV000159538 RCV004562320 RCV003380497

NM_000038.6(APC):c.2461G>A (p.Val821Ile)

SNV
Germline

Chr5:112838055

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA007489

rs_138498551

9 SubmittersRCV000159539 RCV000205053 RCV000572390 RCV000779726 RCV003998408

NM_000038.6(APC):c.3245C>G (p.Thr1082Ser)

SNV
Germline

Chr5:112838839

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
not specified
APC-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA008176

rs_730881244

14 SubmittersRCV000159547 RCV000211907 RCV000234536 RCV002307414 RCV004724944 RCV005031669

NM_000038.6(APC):c.3347G>A (p.Gly1116Asp)

SNV
Germline

Chr5:112838941

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA008298

rs_730881224

6 SubmittersRCV000159511 RCV001020050 RCV004562314 RCV003998393

NM_000038.6(APC):c.3415A>C (p.Lys1139Gln)

SNV
Germline

Chr5:112839009

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Condition: not provided
not specified
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA008372

rs_201550951

11 SubmittersRCV000159549 RCV000211910 RCV000586988 RCV001818351 RCV004562323 RCV003998412

NM_000038.6(APC):c.4073C>T (p.Ala1358Val)

SNV
Germline

Chr5:112839667

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Colorectal cancer, susceptibility to
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA008903

rs_730881249

10 SubmittersRCV000159553 RCV000235095 RCV000210103 RCV000998414 RCV004562326

NM_000038.6(APC):c.4597A>G (p.Asn1533Asp)

SNV
Germline

Chr5:112840191

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA009631

rs_730881226

6 SubmittersRCV000159513 RCV000583326 RCV003998395 RCV003474816

NM_000038.6(APC):c.6099C>G (p.Asp2033Glu)

SNV
Germline

Chr5:112841693

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA010908

rs_370532497

8 SubmittersRCV000159563 RCV000167931 RCV000491513 RCV003998416

NM_000038.6(APC):c.6173G>A (p.Gly2058Asp)

SNV
Germline

Chr5:112841767

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA010991

rs_150140908

7 SubmittersRCV000218693 RCV000759438 RCV003998396 RCV002516404

NM_000038.6(APC):c.6526T>C (p.Leu2176=)

SNV
Germline

Chr5:112842120

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
APC-Associated Polyposis Disorders
Familial adenomatous polyposis 1
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA012274

rs_183468041

18 SubmittersRCV000211925 RCV000159522 RCV000587270 RCV000282259 RCV004562317 RCV001356057

NM_000038.6(APC):c.6670A>G (p.Ile2224Val)

SNV
Germline

Chr5:112842264

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
6 conditions

Criteria Provided
Conflicting Classifications

CA012361

rs_374597207

9 SubmittersRCV000159566 RCV000575448 RCV002265632 RCV003998418 RCV004562328 RCV005031670

NM_000038.6(APC):c.6694C>G (p.His2232Asp)

SNV
Germline

Chr5:112842288

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis
not specified

Criteria Provided
Conflicting Classifications

CA012407

rs_730881256

11 SubmittersRCV000204441 RCV000216441 RCV000656749 RCV003998419 RCV004689632

NM_000038.6(APC):c.7174C>A (p.Pro2392Thr)

SNV
Germline

Chr5:112842768

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Classic or attenuated familial adenomatous polyposis
6 conditions

Criteria Provided
Conflicting Classifications

CA012891

rs_730881257

14 SubmittersRCV000159568 RCV000219951 RCV000409928 RCV001192797 RCV003998420 RCV005042307

NM_000038.6(APC):c.7264A>G (p.Thr2422Ala)

SNV
Germline

Chr5:112842858

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA012961

rs_730881260

10 SubmittersRCV000159571 RCV000573375 RCV000590001 RCV002516417 RCV003998421

NM_000038.6(APC):c.7588C>T (p.Arg2530Trp)

SNV
Germline

Chr5:112843182

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA013892

rs_730881265

8 SubmittersRCV000159576 RCV000211935 RCV000656751 RCV003998423 RCV002516419

NM_000038.6(APC):c.8107A>G (p.Lys2703Glu)

SNV
Germline

Chr5:112843701

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
APC-Associated Polyposis Disorders
Hereditary cancer-predisposing syndrome
not specified
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA014335

rs_730881270

12 SubmittersRCV000159581 RCV000525703 RCV000322812 RCV000575937 RCV002307415 RCV003998426 RCV004739489

NM_001048174.2(MUTYH):c.1538C>T (p.Ala513Val)

SNV
Germline

Chr1:45329334

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA013181

rs_751053826

7 SubmittersRCV000164546 RCV000474274 RCV000589735

NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys)

SNV
Germline

Chr1:45329389

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
not specified
MUTYH-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA013050

rs_147480076

11 SubmittersRCV000229869 RCV000165016 RCV001175587 RCV004528913 RCV000679426

NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=)

SNV
Germline

Chr1:45329408

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 2
Condition: not provided
MUTYH-related disorder

Criteria Provided
Conflicting Classifications

CA012995

rs_143796254

14 SubmittersRCV000163840 RCV000427252 RCV001084408 RCV000586077 RCV004539538

NM_001048174.2(MUTYH):c.1392+2C>T

SNV
Germline

Chr1:45331180

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Condition: not provided
MUTYH-related disorder

Criteria Provided
Conflicting Classifications

CA012892

rs_140288388

16 SubmittersRCV000166725 RCV000470920 RCV000506630 RCV001358548 RCV004739539

NM_001048174.2(MUTYH):c.1258C>G (p.His420Asp)

SNV
Germline

Chr1:45331316

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA012643

rs_786202133

4 SubmittersRCV000164793 RCV000659899

NM_001048174.2(MUTYH):c.1167C>T (p.Arg389=)

SNV
Germline

Chr1:45331492

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Conflicting Classifications

CA012415

rs_786202141

4 SubmittersRCV000164805 RCV000226921 RCV005396478

NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=)

SNV
Germline

Chr1:45331552

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
not specified
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Conflicting Classifications

CA012294

rs_201412035

10 SubmittersRCV000163226 RCV000205649 RCV001706072 RCV005406861 RCV005394577

NM_001048174.2(MUTYH):c.1103-5C>A

SNV
Germline

Chr1:45331561

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA012257

rs_786202228

2 SubmittersRCV000164944 RCV002517618

NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)

SNV
Germline

Chr1:45331809

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial colorectal cancer type X
Familial adenomatous polyposis 2
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Conflicting Classifications

CA012034

rs_372673338

15 SubmittersRCV000165812 RCV000255834 RCV000584863 RCV005359515 RCV000459930 RCV005025262

NM_001048174.2(MUTYH):c.953C>G (p.Ser318Trp)

SNV
Germline

Chr1:45331810

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2
Gastric cancer
not specified

Criteria Provided
Conflicting Classifications

CA012006

rs_587778538

13 SubmittersRCV000203957 RCV000165499 RCV000759877 RCV002492662 RCV005055659

NM_001048174.2(MUTYH):c.914-5C>G

SNV
Germline

Chr1:45331854

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA014790

rs_786203632

3 SubmittersRCV000167028 RCV000465569

NM_001048174.2(MUTYH):c.901G>T (p.Val301Leu)

SNV
Germline

Chr1:45332035

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA014781

rs_147718169

5 SubmittersRCV000164277 RCV000604526 RCV003318556 RCV000541072

NM_001048174.2(MUTYH):c.835C>T (p.Arg279Trp)

SNV
Germline

Chr1:45332180

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014609

rs_759822330

9 SubmittersRCV000165997 RCV000640360 RCV003320586 RCV003441765

NM_001048174.2(MUTYH):c.802C>T (p.Leu268=)

SNV
Germline

Chr1:45332213

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA014567

rs_778782508

10 SubmittersRCV000198018 RCV000163056 RCV000679431 RCV003493468

NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)

SNV
Germline

Chr1:45332215

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2
Carcinoma of colon
Breast carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA014557

rs_374950566

25 SubmittersRCV000164625 RCV000235921 RCV000456980 RCV001353603 RCV001554252

NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter)

SNV
Germline

Chr1:45332300

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA014333

rs_786203115

10 SubmittersRCV000198325 RCV000166279 RCV003223616 RCV003162709

NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)

SNV
Germline

Chr1:45332458

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Gastric cancer
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA014196

rs_34126013

18 SubmittersRCV000235834 RCV000164664 RCV005025256 RCV000369240

NM_001048174.2(MUTYH):c.612C>T (p.Thr204=)

SNV
Germline

Chr1:45332483

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014134

rs_780747266

12 SubmittersRCV000163819 RCV000411321 RCV000506665 RCV000757498

NM_001048174.2(MUTYH):c.559G>A (p.Val187Met)

SNV
Germline

Chr1:45332621

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA014022

rs_776487884

9 SubmittersRCV000164298 RCV000502295 RCV001358407

NM_001048174.2(MUTYH):c.493-5A>G

SNV
Germline

Chr1:45332692

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA013917

rs_758377868

11 SubmittersRCV000162459 RCV000180208 RCV000411665

NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu)

SNV
Germline

Chr1:45332794

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA013808

rs_143353451

8 SubmittersRCV000164867 RCV000799235 RCV001770127 RCV003320581

NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)

SNV
Germline

Chr1:45332795

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Ovarian cancer
Condition: not provided
Pilomatrixoma

Criteria Provided
Multiple Submitters
No Conflicts

CA013785

rs_747993448

18 SubmittersRCV000166998 RCV000229525 RCV003153454 RCV000236750 RCV002272151

NM_001048174.2(MUTYH):c.421-2A>C

SNV
Germline

Chr1:45332836

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA013693

rs_786203161

7 SubmittersRCV000166350 RCV000694454 RCV003231350

NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)

SNV
Germline

Chr1:45332952

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA013620

rs_777184451

9 SubmittersRCV000165108 RCV000226581 RCV001355674

NM_001048174.2(MUTYH):c.378+3G>A

SNV
Germline

Chr1:45333094

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA013611

rs_373939052

4 SubmittersRCV000165102 RCV000235270 RCV001850310

NM_001048174.2(MUTYH):c.356A>G (p.Asn119Ser)

SNV
Germline

Chr1:45333119

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
Gastric cancer
Familial adenomatous polyposis 2
not specified

Criteria Provided
Conflicting Classifications

CA013572

rs_771641237

9 SubmittersRCV000165758 RCV000228615 RCV000985860 RCV002485025 RCV003235085

NM_001048174.2(MUTYH):c.325C>T (p.Leu109=)

SNV
Germline

Chr1:45333150

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Condition: not provided
MUTYH-related disorder

Criteria Provided
Conflicting Classifications

CA013540

rs_368963039

8 SubmittersRCV000163347 RCV000233728 RCV000609907 RCV001711327 RCV004535071

NM_001048174.2(MUTYH):c.305-1G>A

SNV
Germline

Chr1:45333171

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA013479

rs_372267274

10 SubmittersRCV000166470 RCV000469315 RCV001358068

NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)

SNV
Germline

Chr1:45333436

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
Carcinoma of colon
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA013370

rs_765123255

14 SubmittersRCV000162761 RCV000230772 RCV000442590 RCV001353971 RCV003162684

NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)

SNV
Germline

Chr1:45333452

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2
Gastric cancer
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA013324

rs_748170941

14 SubmittersRCV000164326 RCV000523882 RCV000196257 RCV005025253

NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)

SNV
Germline

Chr1:45333471

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Carcinoma of colon
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA013305

rs_755653922

12 SubmittersRCV000164952 RCV000555612 RCV000612945 RCV001354534 RCV003151751 RCV003153444

NM_001048174.2(MUTYH):c.165A>T (p.Ser55=)

SNV
Germline

Chr1:45333512

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA013261

rs_786203971

4 SubmittersRCV000167506 RCV000640408 RCV001753575

NM_001128425.2(MUTYH):c.192C>T (p.Ala64=)

SNV
Germline

Chr1:45333569

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA011725

rs_760321509

7 SubmittersRCV000466932 RCV000166419 RCV002307426 RCV004589791

NM_001048174.2(MUTYH):c.87C>T (p.Asn29=)

SNV
Germline

Chr1:45334419

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Condition: not provided
MUTYH-related disorder

Criteria Provided
Conflicting Classifications

CA012520

rs_141679570

12 SubmittersRCV000162631 RCV000227327 RCV000504500 RCV000759159 RCV004544479

NM_001048174.2(MUTYH):c.84C>A (p.Asn28Lys)

SNV
Germline

Chr1:45334422

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA012471

rs_200514222

4 SubmittersRCV000167094 RCV001850360

NM_001128425.2(MUTYH):c.13G>C (p.Val5Leu)

SNV
Germline

Chr1:45340242

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA012678

rs_786201933

2 SubmittersRCV000164470 RCV001850298

NM_000038.6(APC):c.60C>T (p.Asn20=)

SNV
Germline

Chr5:112754950

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
not specified

Criteria Provided
Conflicting Classifications

CA010920

rs_780155240

8 SubmittersRCV000166303 RCV001697159 RCV004019982 RCV003995499 RCV001844061

NM_000038.6(APC):c.181G>A (p.Ala61Thr)

SNV
Germline

Chr5:112766371

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA006037

rs_786201989

5 SubmittersRCV000164557 RCV003995350 RCV004567246 RCV001697165

NM_000038.6(APC):c.221-2A>G

SNV
Germline

Chr5:112767187

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
Familial multiple polyposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007277

rs_786201291

7 SubmittersRCV000163246 RCV000480238 RCV003995243 RCV004562337 RCV004700500

NM_000038.6(APC):c.669A>C (p.Gln223His)

SNV
Germline

Chr5:112792469

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA012417

rs_769482880

10 SubmittersRCV000163884 RCV000411931 RCV001358755 RCV003126560 RCV003995293

NM_000038.6(APC):c.730-3C>T

SNV
Germline

Chr5:112801276

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA013579

rs_786203125

7 SubmittersRCV000166294 RCV000412218 RCV000588450

NM_000038.6(APC):c.759C>G (p.Gly253=)

SNV
Germline

Chr5:112801308

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
APC-related disorder

Criteria Provided
Conflicting Classifications

CA013925

rs_746850663

9 SubmittersRCV000165035 RCV002281064 RCV004562355 RCV003965208

NM_000038.6(APC):c.835-3T>C

SNV
Germline

Chr5:112815492

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015171

rs_372090940

10 SubmittersRCV000164509 RCV000409101 RCV000432869 RCV001729422

NM_000038.6(APC):c.847C>T (p.Arg283Ter)

SNV
Germline/somatic

Chr5:112815507

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Desmoid disease, hereditary
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
Carcinoma of colon
6 conditions
Carcinoma of colon
Familial adenomatous polyposis 1
Colorectal cancer

Reviewed By Expert Panel

CA015543

rs_786201856

15 SubmittersRCV000202113 RCV000164351 RCV000501350 RCV000763538 RCV005031679 RCV001353622 RCV002517615 RCV004813067

NM_000038.6(APC):c.994C>T (p.Arg332Ter)

SNV
Germline

Chr5:112819026

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1
6 conditions
Inherited polyposis and early onset colorectal cancer - germline testing

Criteria Provided
Multiple Submitters
No Conflicts

CA016038

rs_775126020

15 SubmittersRCV000164280 RCV000202243 RCV000503333 RCV000460182 RCV002498813 RCV004692773

NM_000038.6(APC):c.1121G>A (p.Arg374Gln)

SNV
Germline

Chr5:112819153

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Familial multiple polyposis syndrome
Classic or attenuated familial adenomatous polyposis
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA004057

rs_141582813

13 SubmittersRCV000544500 RCV000164563 RCV001353563 RCV000239027 RCV003995351 RCV005031681 RCV002478503

NM_000038.6(APC):c.1331A>G (p.His444Arg)

SNV
Germline

Chr5:112821914

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA004248

rs_371065509

4 SubmittersRCV000165915 RCV004562362 RCV004804755 RCV005621895

NM_000038.6(APC):c.1722A>G (p.Glu574=)

SNV
Germline

Chr5:112828951

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
not specified
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA005478

rs_786201277

7 SubmittersRCV000163224 RCV000317916 RCV000421864 RCV002515127 RCV003995240

NM_000038.6(APC):c.2110G>A (p.Val704Ile)

SNV
Germline

Chr5:112837704

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Condition: not provided
APC-Associated Polyposis Disorders
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA007204

rs_367804502

12 SubmittersRCV000164801 RCV000198244 RCV000236550 RCV000657054 RCV001155352 RCV003995365

NM_000038.6(APC):c.2205G>A (p.Ala735=)

SNV
Germline

Chr5:112837799

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Condition: not provided
Carcinoma of colon
APC-Associated Polyposis Disorders

Criteria Provided
Conflicting Classifications

CA007267

rs_141001261

12 SubmittersRCV000162793 RCV000199939 RCV000429527 RCV000587002 RCV001353912 RCV001155353

NM_000038.6(APC):c.2222A>G (p.Asn741Ser)

SNV
Germline

Chr5:112837816

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
not specified
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA007300

rs_150209825

12 SubmittersRCV000163857 RCV000197204 RCV000236573 RCV001193496 RCV003995289 RCV004739513

NM_000038.6(APC):c.2232T>G (p.Ser744=)

SNV
Germline

Chr5:112837826

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Condition: not provided
APC-related disorder

Criteria Provided
Conflicting Classifications

CA007308

rs_145751759

13 SubmittersRCV000163199 RCV000439758 RCV000462393 RCV000590422 RCV003917561

NM_000038.6(APC):c.2483C>T (p.Thr828Ile)

SNV
Germline

Chr5:112838077

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA007517

rs_786203696

10 SubmittersRCV000167114 RCV000410146 RCV000985291 RCV001420829 RCV003995561

NM_000038.6(APC):c.2805C>G (p.Tyr935Ter)

SNV
Germline

Chr5:112838399

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1
Gastric adenocarcinoma and proximal polyposis of the stomach

Criteria Provided
Multiple Submitters
No Conflicts

CA007811

rs_137854575

7 SubmittersRCV000165582 RCV000202153 RCV000500049 RCV004562359 RCV003137694

NM_000038.6(APC):c.2971G>T (p.Glu991Ter)

SNV
Germline

Chr5:112838565

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007967

rs_786202995

2 SubmittersRCV000166096 RCV003454411

NM_000038.6(APC):c.3653C>T (p.Thr1218Met)

SNV
Germline

Chr5:112839247

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
APC-Associated Polyposis Disorders
Condition: not provided
Classic or attenuated familial adenomatous polyposis
not specified
APC-related disorder

Criteria Provided
Conflicting Classifications

CA008612

rs_377640390

12 SubmittersRCV000167240 RCV000233583 RCV001154641 RCV000483908 RCV003995576 RCV001553558 RCV004739543

NM_000038.6(APC):c.3909A>G (p.Gln1303=)

SNV
Germline

Chr5:112839503

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Condition: not provided
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA008747

rs_746289994

10 SubmittersRCV000163132 RCV000409994 RCV000607365 RCV003477585 RCV003945263 RCV003995236

NM_000038.6(APC):c.3910A>G (p.Ile1304Val)

SNV
Germline

Chr5:112839504

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA008754

rs_770157475

5 SubmittersRCV000165668 RCV000689521 RCV003995444

NM_000038.6(APC):c.4334C>T (p.Thr1445Ile)

SNV
Germline

Chr5:112839928

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009453

rs_760686348

9 SubmittersRCV000165845 RCV000409886 RCV003320584 RCV003477621 RCV003995457

NM_000038.6(APC):c.4424C>T (p.Ala1475Val)

SNV
Germline

Chr5:112840018

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, susceptibility to
not specified
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA009538

rs_375380414

9 SubmittersRCV000165744 RCV000210169 RCV000607446 RCV000985303 RCV003995448 RCV002516489

NM_000038.6(APC):c.4534G>A (p.Asp1512Asn)

SNV
Germline

Chr5:112840128

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
APC-Associated Polyposis Disorders
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009616

rs_778699501

8 SubmittersRCV000166273 RCV000236286 RCV001704215 RCV001155477 RCV003765040 RCV003995494

NM_000038.6(APC):c.4621C>T (p.Gln1541Ter)

SNV
Germline

Chr5:112840215

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA009662

rs_786201801

3 SubmittersRCV000164276 RCV003335155

NM_000038.6(APC):c.5105G>A (p.Gly1702Glu)

SNV
Germline

Chr5:112840699

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Desmoid disease, hereditary
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
Carcinoma of colon
Classic or attenuated familial adenomatous polyposis
not specified

Criteria Provided
Conflicting Classifications

CA009865

rs_769273526

11 SubmittersRCV000163348 RCV000231340 RCV000758732 RCV000764565 RCV003995246 RCV002267901

NM_000038.6(APC):c.5216A>G (p.Lys1739Arg)

SNV
Germline

Chr5:112840810

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Condition: not provided
Classic or attenuated familial adenomatous polyposis
6 conditions

Criteria Provided
Conflicting Classifications

CA009933

rs_769558291

12 SubmittersRCV000163875 RCV000205541 RCV000589784 RCV003233477 RCV003995292 RCV005042326

NM_000038.6(APC):c.5608G>A (p.Asp1870Asn)

SNV
Germline

Chr5:112841202

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA010538

rs_769579396

3 SubmittersRCV000167355 RCV003765047 RCV003995587

NM_000038.6(APC):c.5839A>G (p.Thr1947Ala)

SNV
Germline

Chr5:112841433

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
not specified
6 conditions
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA010734

rs_746346292

12 SubmittersRCV000164466 RCV000206414 RCV000483817 RCV000779706 RCV005031680 RCV003995344

NM_000038.6(APC):c.5912C>G (p.Ser1971Cys)

SNV
Germline

Chr5:112841506

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Colorectal cancer
Condition: not provided
Carcinoma of colon
Classic or attenuated familial adenomatous polyposis
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA010787

rs_754691867

14 SubmittersRCV000167000 RCV000455669 RCV000677738 RCV002260627 RCV001358361 RCV003995547 RCV003975238 RCV004562375

NM_000038.6(APC):c.6117G>T (p.Leu2039Phe)

SNV
Germline

Chr5:112841711

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Condition: not provided
Carcinoma of colon
APC-related disorder
6 conditions
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA010933

rs_372418435

14 SubmittersRCV000163274 RCV000236184 RCV000232978 RCV000656748 RCV001353588 RCV004739510 RCV005042323 RCV004806124

NM_000038.6(APC):c.6136G>A (p.Ala2046Thr)

SNV
Germline

Chr5:112841730

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA010972

rs_770406711

11 SubmittersRCV000164449 RCV000411350 RCV000759436 RCV004739520 RCV003995342

NM_000038.6(APC):c.6446A>C (p.His2149Pro)

SNV
Germline

Chr5:112842040

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA011185

rs_749230730

12 SubmittersRCV000164369 RCV000545398 RCV000236978 RCV000679080 RCV003995337

NM_000038.6(APC):c.6709C>T (p.Arg2237Ter)

SNV
Germline/somatic

Chr5:112842303

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Familial multiple polyposis syndrome
Classic or attenuated familial adenomatous polyposis
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA012440

rs_768922431

10 SubmittersRCV000167356 RCV000237046 RCV002515179 RCV004017447 RCV004806149 RCV004668828

NM_000038.6(APC):c.7402T>C (p.Ser2468Pro)

SNV
Germline

Chr5:112842996

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
not specified
Condition: not provided
APC-related disorder

Criteria Provided
Conflicting Classifications

CA013665

rs_375586273

15 SubmittersRCV000163734 RCV000234737 RCV003995277 RCV000779738 RCV001310857 RCV003398835

NM_000038.6(APC):c.7472T>C (p.Met2491Thr)

SNV
Germline

Chr5:112843066

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA013705

rs_369075403

12 SubmittersRCV000164068 RCV000226252 RCV000590327 RCV003995309

NM_000038.6(APC):c.7531C>T (p.Leu2511Phe)

SNV
Germline

Chr5:112843125

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
6 conditions
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA013771

rs_72541815

10 SubmittersRCV000166364 RCV000473143 RCV000482783 RCV002478515 RCV003995502

NM_000038.6(APC):c.7574G>A (p.Arg2525His)

SNV
Germline

Chr5:112843168

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
not specified
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA013862

rs_762034315

12 SubmittersRCV000164075 RCV000226636 RCV000483633 RCV001582644 RCV003995310 RCV003937504

NM_000038.6(APC):c.7929A>G (p.Leu2643=)

SNV
Germline

Chr5:112843523

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Classic or attenuated familial adenomatous polyposis
not specified

Criteria Provided
Conflicting Classifications

CA014191

rs_138796072

16 SubmittersRCV000230717 RCV000858816 RCV000164877 RCV001155674 RCV003995372 RCV000441754

NM_000038.6(APC):c.7986G>A (p.Glu2662=)

SNV
Germline

Chr5:112843580

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
APC-related disorder
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA014222

rs_571645304

13 SubmittersRCV000163688 RCV000779708 RCV000234782 RCV003937493 RCV001354670 RCV003995271

NM_000038.6(APC):c.8100T>C (p.Asn2700=)

SNV
Germline

Chr5:112843694

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
APC-Associated Polyposis Disorders
not specified
Classic or attenuated familial adenomatous polyposis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014315

rs_761326128

11 SubmittersRCV000163313 RCV000205888 RCV000260617 RCV000602636 RCV003995245 RCV005256571

NM_000038.6(APC):c.8429A>G (p.Asn2810Ser)

SNV
Germline

Chr5:112844023

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA015484

rs_758044862

9 SubmittersRCV000165965 RCV000228193 RCV000236023 RCV003995468

NM_001048174.2(MUTYH):c.1486A>G (p.Met496Val)

SNV
Germline

Chr1:45329386

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA013059

rs_587780080

6 SubmittersRCV000167910 RCV000571963 RCV001560234 RCV003320589

NM_000038.6(APC):c.647G>A (p.Arg216Gln)

SNV
Germline

Chr5:112792447

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
APC-Associated Polyposis Disorders
Hereditary cancer-predisposing syndrome
Hereditary cancer
not specified

Criteria Provided
Conflicting Classifications

CA012234

rs_76685252

11 SubmittersRCV000168256 RCV000480784 RCV000364207 RCV000563625 RCV003491922 RCV003987392

NM_000038.6(APC):c.925G>T (p.Gly309Ter)

SNV
Germline

Chr5:112815585

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA015663

rs_786204118

1 SubmittersRCV000168066

NM_000038.6(APC):c.1262G>A (p.Trp421Ter)

SNV
Germline

Chr5:112819294

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA004112

rs_559510809

4 SubmittersRCV000168200 RCV002444673 RCV004998363

NM_000038.6(APC):c.2240C>T (p.Ser747Leu)

SNV
Germline

Chr5:112837834

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Desmoid disease, hereditary

Criteria Provided
Conflicting Classifications

CA007315

rs_773020689

9 SubmittersRCV000484713 RCV000218100 RCV002291585 RCV003995610 RCV005361047

NM_000038.6(APC):c.2534G>A (p.Arg845His)

SNV
Germline

Chr5:112838128

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA007574

rs_776878597

9 SubmittersRCV000168139 RCV000485635 RCV000569311 RCV003995609

NM_000038.6(APC):c.3314G>A (p.Arg1105Gln)

SNV
Germline

Chr5:112838908

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA008260

rs_548176472

6 SubmittersRCV000567203 RCV000998412 RCV003995627 RCV004562386

NM_000038.6(APC):c.3830T>G (p.Leu1277Ter)

SNV
Germline

Chr5:112839424

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA008704

rs_786204169

1 SubmittersRCV004567362

NM_000038.6(APC):c.4175C>A (p.Ser1392Ter)

SNV
Germline

Chr5:112839769

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA008927

rs_786204170

1 SubmittersRCV000168194

NM_000038.6(APC):c.4765C>T (p.Arg1589Cys)

SNV
Germline

Chr5:112840359

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009735

rs_72541813

9 SubmittersRCV000565123 RCV000508130 RCV001589045 RCV004567358 RCV003995599

NM_000038.6(APC):c.5213A>C (p.His1738Pro)

SNV
Germline

Chr5:112840807

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA009926

rs_149882057

4 SubmittersRCV001182080 RCV004804779 RCV003765049

NM_000038.6(APC):c.7193C>T (p.Ser2398Phe)

SNV
Germline

Chr5:112842787

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA012909

rs_150882838

13 SubmittersRCV000168076 RCV000657134 RCV000486411 RCV000491288 RCV003995605

NM_000038.6(APC):c.4348C>T (p.Arg1450Ter)

SNV
Germline/somatic

Chr5:112839942

Pathogenic

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Neoplasm
APC-Associated Polyposis Disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA009465

rs_121913332

11 SubmittersRCV000174977 RCV000486553 RCV000494198 RCV000659277 RCV004668832 RCV001824661

NM_001048174.2(MUTYH):c.1390A>T (p.Lys464Ter)

SNV
Germline

Chr1:45331184

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA338021

rs_863224502

3 SubmittersRCV000198593 RCV001184572

NM_001048174.2(MUTYH):c.1171G>C (p.Ala391Pro)

SNV
Germline

Chr1:45331488

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Conflicting Classifications

CA339462

rs_587780744

5 SubmittersRCV000200655 RCV000220875 RCV001574187 RCV005396615

NM_001048174.2(MUTYH):c.852G>A (p.Val284=)

SNV
Germline

Chr1:45332084

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
MUTYH-related disorder
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Conflicting Classifications

CA059733

rs_751875215

7 SubmittersRCV000199615 RCV000217274 RCV004530193 RCV005396616

NM_001048174.2(MUTYH):c.420+2T>G

SNV
Germline

Chr1:45332916

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA336154

rs_587782730

1 SubmittersRCV000196093

NM_001048174.2(MUTYH):c.305-2A>G

SNV
Germline

Chr1:45333172

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA337713

rs_863224452

3 SubmittersRCV000198184 RCV002354561

NM_001048174.2(MUTYH):c.305-7C>A

SNV
Germline

Chr1:45333177

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
MUTYH-related disorder

Criteria Provided
Conflicting Classifications

CA335792

rs_863224698

8 SubmittersRCV000195589 RCV000235223 RCV000580780 RCV004530192

NM_001128425.2(MUTYH):c.37G>A (p.Ala13Thr)

SNV
Germline

Chr1:45334511

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Carcinoma of colon
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338910

rs_375349172

7 SubmittersRCV000199845 RCV000502616 RCV000216921 RCV001589079

NM_000038.6(APC):c.309A>G (p.Val103=)

SNV
Germline

Chr5:112767277

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA336102

rs_863224279

5 SubmittersRCV001018605 RCV003765264 RCV003477651 RCV003996940

NM_000038.6(APC):c.423G>T (p.Arg141Ser)

SNV
Germline

Chr5:112775629

Pathogenic

Familial adenomatous polyposis 1
Carcinoma of colon
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA338613

rs_863224458

5 SubmittersRCV000199388 RCV000501209 RCV001270008

NM_000038.6(APC):c.1072C>T (p.Gln358Ter)

SNV
Germline

Chr5:112819104

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA337910

rs_863224455

3 SubmittersRCV000775125 RCV003337243

NM_000038.6(APC):c.1114A>G (p.Asn372Asp)

SNV
Germline

Chr5:112819146

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA026723

rs_201478136

5 SubmittersRCV000581511 RCV004562406 RCV002469059

NM_000038.6(APC):c.1606G>A (p.Glu536Lys)

SNV
Germline

Chr5:112827986

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
Desmoid disease, hereditary
Carcinoma of colon
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA028603

rs_138098808

11 SubmittersRCV000199835 RCV000217491 RCV000235744 RCV000656746 RCV000764561 RCV005235100

NM_000038.6(APC):c.2090C>T (p.Ala697Val)

SNV
Germline

Chr5:112837684

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA030702

rs_761733547

13 SubmittersRCV000200684 RCV000484738 RCV000575021 RCV000657015 RCV003996966

NM_000038.6(APC):c.2444A>C (p.Asn815Thr)

SNV
Germline

Chr5:112838038

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA032096

rs_762990578

11 SubmittersRCV000197360 RCV000493690 RCV000563002 RCV001155356 RCV001192829 RCV003996969

NM_000038.6(APC):c.2626C>T (p.Arg876Ter)

SNV
Germline/somatic

Chr5:112838220

Pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
not specified
Condition: not provided
Familial adenomatous polyposis 1
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA338207

rs_121913333

17 SubmittersRCV000492041 RCV000500904 RCV001000185 RCV000236362 RCV002288811 RCV004668843

NM_000038.6(APC):c.3299C>T (p.Ser1100Phe)

SNV
Germline

Chr5:112838893

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Classic or attenuated familial adenomatous polyposis
Gastric adenocarcinoma and proximal polyposis of the stomach
Attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA335915

rs_863224541

9 SubmittersRCV000195761 RCV000235272 RCV000574827 RCV001264460 RCV003996971 RCV005429006

NM_000038.6(APC):c.3436C>T (p.Arg1146Cys)

SNV
Germline

Chr5:112839030

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA035367

rs_202168805

10 SubmittersRCV000236811 RCV000491194 RCV001553560 RCV004562408 RCV003996973

NM_000038.6(APC):c.4395T>A (p.Ser1465Arg)

SNV
Germline

Chr5:112839989

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA038949

rs_779898882

12 SubmittersRCV000198718 RCV000236990 RCV000446409 RCV000766728 RCV003996975

NM_000038.6(APC):c.5304G>A (p.Lys1768=)

SNV
Germline

Chr5:112840898

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA339368

rs_863224285

10 SubmittersRCV000570509 RCV000608378 RCV001357058 RCV004562403 RCV003996942

NM_000038.6(APC):c.8017A>G (p.Arg2673Gly)

SNV
Germline

Chr5:112843611

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
6 conditions
Familial adenomatous polyposis 1
Desmoid disease, hereditary

Criteria Provided
Conflicting Classifications

CA049665

rs_767286063

9 SubmittersRCV000202229 RCV000572076 RCV000766698 RCV002500621 RCV002515464 RCV005361140

NM_000038.6(APC):c.8213T>C (p.Ile2738Thr)

SNV
Germline

Chr5:112843807

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA336116

rs_863224552

7 SubmittersRCV000196029 RCV000564610 RCV000780867 RCV003996981

NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)

SNV
Germline

Chr5:112844056

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Desmoid disease, hereditary
Carcinoma of colon
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
not specified
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA050869

rs_780049836

11 SubmittersRCV000196318 RCV000478701 RCV000567493 RCV000765792 RCV000779724 RCV003996983 RCV004725054

NM_000038.6(APC):c.95A>G (p.Asn32Ser)

SNV
Germline

Chr5:112754985

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Neoplasm of stomach
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA051346

rs_539108537

15 SubmittersRCV000202147 RCV000204603 RCV000569857 RCV000656743 RCV000677775 RCV003997044

NM_000038.6(APC):c.221-1G>A

SNV
Germline

Chr5:112767188

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279668

rs_863225327

4 SubmittersRCV000201979 RCV000491712 RCV004562414

NM_000038.6(APC):c.288T>G (p.Tyr96Ter)

SNV
Germline

Chr5:112767256

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Familial multiple polyposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA248534

rs_376213437

5 SubmittersRCV000202141 RCV000491545 RCV002517324 RCV003387803

NM_000038.6(APC):c.301G>T (p.Gly101Ter)

SNV
Germline

Chr5:112767269

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279710

rs_863225335

5 SubmittersRCV000202070 RCV000570097 RCV002517325

NM_000038.6(APC):c.487C>T (p.Gln163Ter)

SNV
Germline

Chr5:112775693

Pathogenic

Condition: not provided
Familial multiple polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279721

rs_863225362

8 SubmittersRCV000202083 RCV000500940 RCV001023190 RCV002517332

NM_000038.6(APC):c.531+2T>A

SNV
Germline

Chr5:112775739

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279737

rs_863225365

5 SubmittersRCV000202121 RCV000491613 RCV001193574 RCV002519591

NM_000038.6(APC):c.531+2T>C

SNV
Germline

Chr5:112775739

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279807

rs_863225365

4 SubmittersRCV000202262 RCV000563395 RCV004563120

NM_000038.6(APC):c.541C>T (p.Gln181Ter)

SNV
Germline

Chr5:112780799

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279657

rs_863225366

4 SubmittersRCV000201966 RCV002345721 RCV004563121

NM_000038.6(APC):c.645+1G>A

SNV
Germline

Chr5:112780904

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA279701

rs_863225370

7 SubmittersRCV000202059 RCV001025281 RCV002517337

NM_000038.6(APC):c.1045C>T (p.Gln349Ter)

SNV
Germline

Chr5:112819077

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279782

rs_863225307

3 SubmittersRCV000202206 RCV002399752 RCV004567443

NM_000038.6(APC):c.1297C>T (p.Gln433Ter)

SNV
Germline

Chr5:112819329

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279741

rs_863225309

4 SubmittersRCV000202128 RCV002381694 RCV002517319

NM_000038.6(APC):c.1312+1G>A

SNV
Germline

Chr5:112819345

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279677

rs_863225310

6 SubmittersRCV000202015 RCV000493121 RCV001354196 RCV002517320

NM_000038.6(APC):c.1312+3A>G

SNV
Germline

Chr5:112819347

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Carcinoma of colon
Desmoid disease, hereditary
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
APC-related disorder
Familial multiple polyposis syndrome
Classic or attenuated familial adenomatous polyposis

Reviewed By Expert Panel

CA279764

rs_863225311

17 SubmittersRCV000202161 RCV000204247 RCV000490831 RCV000500343 RCV000763540 RCV003422107 RCV003987449 RCV003997041

NM_000038.6(APC):c.1409-1G>T

SNV
Germline

Chr5:112827107

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279831

rs_863225313

5 SubmittersRCV000202308 RCV000570454 RCV002519584

NM_000038.6(APC):c.1433T>G (p.Leu478Ter)

SNV
Germline

Chr5:112827132

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279696

rs_863225314

3 SubmittersRCV000202053 RCV003337245

NM_000038.6(APC):c.1500T>A (p.Tyr500Ter)

SNV
Germline

Chr5:112827199

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA248569

rs_387906230

5 SubmittersRCV000202292 RCV001175690 RCV002517321

NM_000038.6(APC):c.1549-1G>A

SNV
Germline

Chr5:112827928

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279777

rs_863225316

3 SubmittersRCV000202184 RCV004562412

NM_000038.6(APC):c.1658G>A (p.Trp553Ter)

SNV
Germline

Chr5:112828887

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279734

rs_863225318

7 SubmittersRCV000202102 RCV000572094 RCV003229818

NM_000038.6(APC):c.1959-1G>A

SNV
Germline

Chr5:112837552

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279751

rs_863225321

4 SubmittersRCV000202143 RCV002415860 RCV002519586

NM_000038.6(APC):c.3147G>A (p.Trp1049Ter)

SNV
Germline

Chr5:112838741

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279705

rs_863225340

5 SubmittersRCV000202067 RCV000218609 RCV004562421

NM_000038.6(APC):c.3688C>T (p.Gln1230Ter)

SNV
Germline

Chr5:112839282

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279680

rs_863225344

5 SubmittersRCV000202019 RCV000493802 RCV004562425

NM_000038.6(APC):c.3810T>A (p.Cys1270Ter)

SNV
Germline

Chr5:112839404

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1
APC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA279753

rs_863225347

9 SubmittersRCV000202149 RCV000490989 RCV002298521 RCV004562426 RCV003982949

NM_000038.6(APC):c.3815C>G (p.Ser1272Ter)

SNV
Germline

Chr5:112839409

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279822

rs_863225348

6 SubmittersRCV000202286 RCV000775141 RCV002517329

NM_000038.6(APC):c.4075A>T (p.Lys1359Ter)

SNV
Unknown

Chr5:112839669

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA279817

rs_863225352

2 SubmittersRCV000202280 RCV004563114

NM_000038.6(APC):c.4495G>T (p.Gly1499Ter)

SNV
Germline

Chr5:112840089

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA248507

rs_756912930

5 SubmittersRCV000202036 RCV003335213 RCV003380517 RCV003401091

NM_000038.6(APC):c.4634C>G (p.Ser1545Ter)

SNV
Germline

Chr5:112840228

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279684

rs_863225356

3 SubmittersRCV000202021 RCV002327055 RCV004563116

NM_000038.6(APC):c.4645C>T (p.Gln1549Ter)

SNV
Germline/somatic

Chr5:112840239

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1
Atypical endometrial hyperplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA279766

rs_863225357

5 SubmittersRCV000202166 RCV002519589 RCV003327380

NM_000038.6(APC):c.7511G>A (p.Trp2504Ter)

SNV
Germline

Chr5:112843105

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA248496

rs_755046558

8 SubmittersRCV000201984 RCV002517338 RCV004658989

NM_002528.7(NTHL1):c.685+1G>A

SNV
Germline

Chr16:2043566

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA210446

rs_372946560

6 SubmittersRCV000202319 RCV000807122 RCV003352802

NM_000038.6(APC):c.7573C>T (p.Arg2525Cys)

SNV
Germline

Chr5:112843167

Conflicting classifications of pathogenicity

Familial multiple polyposis syndrome
not specified
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA048504

rs_774952444

12 SubmittersRCV000202809 RCV000236933 RCV000573374 RCV003997051 RCV000590375 RCV002517343

NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)

SNV
Germline

Chr1:45330557

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
MUTYH-related disorder
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA056613

rs_587782228

13 SubmittersRCV000204688 RCV000215469 RCV000479402 RCV004530223 RCV002503805

NM_001048174.2(MUTYH):c.913+3G>A

SNV
Germline

Chr1:45332020

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350688

rs_864622394

4 SubmittersRCV000206689 RCV003477689 RCV000567027

NM_001048174.2(MUTYH):c.317A>T (p.Glu106Val)

SNV
Germline

Chr1:45333158

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350188

rs_864622450

4 SubmittersRCV000206122 RCV000566693

NM_001128425.2(MUTYH):c.161G>A (p.Cys54Tyr)

SNV
Germline

Chr1:45333600

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA055629

rs_560905645

9 SubmittersRCV000204226 RCV000220830 RCV000781623 RCV000985858

NM_000038.6(APC):c.362G>T (p.Arg121Ile)

SNV
Germline

Chr5:112767330

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA036020

rs_193049694

6 SubmittersRCV000570345 RCV004563134 RCV003997627

NM_000038.6(APC):c.1589T>C (p.Val530Ala)

SNV
Germline

Chr5:112827969

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
not specified
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA028518

rs_202199891

12 SubmittersRCV000657022 RCV000206690 RCV000235972 RCV000566249 RCV003997566

NM_000038.6(APC):c.2627G>A (p.Arg876Gln)

SNV
Germline

Chr5:112838221

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA032826

rs_373428732

12 SubmittersRCV000206834 RCV000236048 RCV000491164 RCV001193536 RCV003997668

NM_000038.6(APC):c.2642C>T (p.Ser881Phe)

SNV
Germline

Chr5:112838236

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA348575

rs_535344579

7 SubmittersRCV000204328 RCV000565056 RCV000478187 RCV003491951 RCV004806195

NM_000038.6(APC):c.3242G>A (p.Ser1081Asn)

SNV
Germline

Chr5:112838836

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA349100

rs_374380039

11 SubmittersRCV000204913 RCV000573936 RCV004589876 RCV004739593 RCV003997561

NM_000038.6(APC):c.3323A>G (p.Asn1108Ser)

SNV
Germline

Chr5:112838917

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA035035

rs_151286353

10 SubmittersRCV000571447 RCV001264579 RCV000236966 RCV003967554 RCV004567480

NM_000038.6(APC):c.5712A>G (p.Gln1904=)

SNV
Germline

Chr5:112841306

Conflicting classifications of pathogenicity

APC-Associated Polyposis Disorders
not specified
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
APC-related disorder

Criteria Provided
Conflicting Classifications

CA042729

rs_755851369

7 SubmittersRCV001152939 RCV002465562 RCV003765319 RCV000491966 RCV004739594

NM_000038.6(APC):c.5752A>G (p.Ile1918Val)

SNV
Germline

Chr5:112841346

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA042868

rs_776966222

10 SubmittersRCV000574367 RCV000204791 RCV000481360 RCV003417741 RCV003997579

NM_000038.6(APC):c.7143A>C (p.Gln2381His)

SNV
Germline

Chr5:112842737

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA047064

rs_756153152

7 SubmittersRCV000236701 RCV000568621 RCV003468948 RCV004739596 RCV003997631

NM_000038.6(APC):c.7577A>G (p.His2526Arg)

SNV
Germline

Chr5:112843171

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA048553

rs_750012595

6 SubmittersRCV000206465 RCV000236866 RCV000570828 RCV003997589

NM_000038.6(APC):c.562C>T (p.Gln188Ter)

SNV
Germline

Chr5:112780820

Pathogenic

Condition: not provided
Colorectal cancer, susceptibility to
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA353493

rs_869312753

4 SubmittersRCV000501976 RCV000210089 RCV004563140 RCV004649098

NM_001048174.2(MUTYH):c.1500C>T (p.Val500=)

SNV
Germline

Chr1:45329372

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA10577695

rs_876658222

3 SubmittersRCV000219151 RCV000985857 RCV005055752

NM_001048174.2(MUTYH):c.1434+4A>G

SNV
Germline

Chr1:45330512

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA10577696

rs_876658323

4 SubmittersRCV000217104 RCV000820803

NM_001048174.2(MUTYH):c.1434+1G>T

SNV
Germline

Chr1:45330515

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10577697

rs_876659420

4 SubmittersRCV000223520 RCV001242171

NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter)

SNV
Germline

Chr1:45331187

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10577699

rs_876660774

3 SubmittersRCV000219128 RCV001386175 RCV003477769

NM_001048174.2(MUTYH):c.1377C>T (p.Ser459=)

SNV
Germline

Chr1:45331197

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10577700

rs_876658316

6 SubmittersRCV000214804 RCV001505755 RCV005406956 RCV004998444

NM_001048174.2(MUTYH):c.1227G>A (p.Arg409=)

SNV
Germline

Chr1:45331432

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA055942

rs_199575659

8 SubmittersRCV000222130 RCV000542792 RCV000611753 RCV004998481

NM_001048174.2(MUTYH):c.923C>T (p.Thr308Ile)

SNV
Germline

Chr1:45331840

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10577720

rs_876659790

5 SubmittersRCV000222190 RCV000465481 RCV002478802

NM_001048174.2(MUTYH):c.920A>G (p.Asn307Ser)

SNV
Germline

Chr1:45331843

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA060122

rs_765808018

5 SubmittersRCV000221955 RCV000461753 RCV001582745

NM_001048174.2(MUTYH):c.877G>A (p.Gly293Arg)

SNV
Germline

Chr1:45332059

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Conflicting Classifications

CA059784

rs_765686051

7 SubmittersRCV000219497 RCV000540135 RCV001551196 RCV005025357

NM_001048174.2(MUTYH):c.797G>A (p.Arg266His)

SNV
Germline

Chr1:45332218

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA059467

rs_146044717

8 SubmittersRCV000213855 RCV000457374 RCV000485598 RCV001293539

NM_001048174.2(MUTYH):c.763A>G (p.Met255Val)

SNV
Germline

Chr1:45332252

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2
Carcinoma of colon

Criteria Provided
Multiple Submitters
No Conflicts

CA10577722

rs_876659676

6 SubmittersRCV000216419 RCV000479475 RCV000536194 RCV001355443

NM_001048174.2(MUTYH):c.752A>G (p.Asn251Ser)

SNV
Germline

Chr1:45332263

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA10577723

rs_587778534

6 SubmittersRCV000223375 RCV001800559 RCV001220277

NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu)

SNV
Germline

Chr1:45332617

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA058472

rs_768553551

9 SubmittersRCV000216464 RCV000542510 RCV001576133

NM_001048174.2(MUTYH):c.544C>T (p.Gln182Ter)

SNV
Germline

Chr1:45332636

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA058460

rs_376561094

6 SubmittersRCV000223123 RCV000426595 RCV000554059

NM_001048174.2(MUTYH):c.420G>A (p.Glu140=)

SNV
Germline

Chr1:45332918

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA10577733

rs_876658641

5 SubmittersRCV000222177 RCV000471395

NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)

SNV
Germline

Chr1:45332955

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2
Carcinoma of colon
Familial adenomatous polyposis 2
Gastric cancer
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA057931

rs_762307622

12 SubmittersRCV000213856 RCV000235993 RCV000411443 RCV001353489 RCV002500727 RCV003165561

NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter)

SNV
Germline

Chr1:45332959

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10577735

rs_876660787

6 SubmittersRCV000216618 RCV000485126 RCV000707329

NM_001048174.2(MUTYH):c.305-1G>C

SNV
Germline

Chr1:45333171

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Carcinoma of colon
Familial adenomatous polyposis 2
Pilomatrixoma
Neoplasm of stomach
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10577740

rs_372267274

14 SubmittersRCV000221410 RCV000230931 RCV001353991 RCV000763342 RCV000478994

NM_001048174.2(MUTYH):c.299A>G (p.Tyr100Cys)

SNV
Germline

Chr1:45333290

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10577741

rs_876660615

7 SubmittersRCV000218591 RCV000559697 RCV005411382

NM_001048174.2(MUTYH):c.170A>G (p.His57Arg)

SNV
Germline

Chr1:45333507

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA057160

rs_558707786

8 SubmittersRCV000220679 RCV000505782 RCV001219416 RCV001354525

NM_001048174.2(MUTYH):c.131C>T (p.Pro44Leu)

SNV
Germline

Chr1:45333546

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA056369

rs_759140181

7 SubmittersRCV000219858 RCV000699386 RCV001813772

NM_001048174.2(MUTYH):c.99G>A (p.Lys33=)

SNV
Germline

Chr1:45334407

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2
MUTYH-related disorder

Criteria Provided
Conflicting Classifications

CA826419

rs_375084663

8 SubmittersRCV000217129 RCV000731866 RCV001087874 RCV004541347

NM_001048174.2(MUTYH):c.-6-5T>G

SNV
Germline

Chr1:45334516

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2
not specified

Criteria Provided
Conflicting Classifications

CA10577752

rs_876660715

6 SubmittersRCV000219910 RCV000481124 RCV000547282 RCV001192931

NM_001128425.2(MUTYH):c.36+3A>T

SNV
Germline

Chr1:45340216

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA089483

rs_759654665

6 SubmittersRCV000220129 RCV000640392 RCV000985859

NM_000038.6(APC):c.220G>T (p.Glu74Ter)

SNV
Germline

Chr5:112766410

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578284

rs_876658941

5 SubmittersRCV000215333 RCV000254875 RCV000501460 RCV004563160

NM_000038.6(APC):c.221-1G>C

SNV
Germline

Chr5:112767188

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578285

rs_863225327

4 SubmittersRCV000213314 RCV003462425

NM_000038.6(APC):c.251G>T (p.Gly84Val)

SNV
Germline

Chr5:112767219

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
APC-related disorder
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA032367

rs_143145868

6 SubmittersRCV000220182 RCV003417782 RCV003462427 RCV003997815

NM_000038.6(APC):c.266C>G (p.Ser89Ter)

SNV
Germline

Chr5:112767234

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
APC-related attenuated familial adenomatous polyposis

Criteria Provided
Multiple Submitters
No Conflicts

CA10578287

rs_876658846

5 SubmittersRCV000221332 RCV000767384 RCV004992098

NM_000038.6(APC):c.278T>A (p.Leu93His)

SNV
Germline

Chr5:112767246

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary cancer
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10578288

rs_876658977

3 SubmittersRCV000217948 RCV003491973 RCV004563163

NM_000038.6(APC):c.311C>G (p.Ser104Ter)

SNV
Germline

Chr5:112767279

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578290

rs_74953290

8 SubmittersRCV000213087 RCV000519665 RCV000506152 RCV001254064

NM_000038.6(APC):c.384A>G (p.Arg128=)

SNV
Germline

Chr5:112767352

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10578292

rs_876659284

5 SubmittersRCV000213500 RCV000484255 RCV002515633

NM_000038.6(APC):c.481C>T (p.Gln161Ter)

SNV
Germline

Chr5:112775687

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Multiple Submitters
No Conflicts

CA10578293

rs_876658325

6 SubmittersRCV000221156 RCV001269625 RCV003765401 RCV005361254

NM_000038.6(APC):c.531+1G>C

SNV
Germline

Chr5:112775738

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10578295

rs_876659973

7 SubmittersRCV000217536 RCV000411683 RCV000482581

NM_000038.6(APC):c.889A>G (p.Thr297Ala)

SNV
Germline

Chr5:112815549

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10578302

rs_876660572

3 SubmittersRCV000216281 RCV001762498 RCV004563214

NM_000038.6(APC):c.933+1G>A

SNV
Germline

Chr5:112815594

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Carcinoma of colon
Desmoid disease, hereditary
Neoplasm of stomach
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578303

rs_876660765

4 SubmittersRCV000217532 RCV000763539 RCV004563220

NM_000038.6(APC):c.933+5C>A

SNV
Germline

Chr5:112815598

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA051240

rs_573528468

7 SubmittersRCV000220507 RCV000417629 RCV001705214 RCV004567560

NM_000038.6(APC):c.1234C>T (p.Gln412Ter)

SNV
Germline

Chr5:112819266

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578310

rs_876660802

4 SubmittersRCV000214229 RCV002516175

NM_000038.6(APC):c.1276G>T (p.Ala426Ser)

SNV
Germline

Chr5:112819308

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA026974

rs_200598389

8 SubmittersRCV000222204 RCV001571736 RCV004020654 RCV003997839 RCV005361270

NM_000038.6(APC):c.1333C>G (p.Gln445Glu)

SNV
Germline

Chr5:112821916

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
6 conditions
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10578313

rs_876658802

8 SubmittersRCV000217057 RCV000585258 RCV002494587 RCV003475011

NM_000038.6(APC):c.1342C>G (p.Pro448Ala)

SNV
Germline

Chr5:112821925

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA027206

rs_374195067

7 SubmittersRCV000219615 RCV001575306 RCV002516173 RCV003417795 RCV003998591

NM_000038.6(APC):c.1417C>T (p.Gln473Ter)

SNV
Germline

Chr5:112827116

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10578316

rs_876658868

4 SubmittersRCV000219498 RCV002519679 RCV004696880

NM_000038.6(APC):c.1531G>T (p.Gly511Ter)

SNV
Germline

Chr5:112827230

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578317

rs_876658811

2 SubmittersRCV000220669 RCV003765410

NM_000038.6(APC):c.1553C>T (p.Thr518Met)

SNV
Germline

Chr5:112827933

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Hepatocellular carcinoma
Carcinoma of colon
Neoplasm of stomach
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Condition: not provided
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA028394

rs_371453363

11 SubmittersRCV000221284 RCV000461223 RCV000764560 RCV001284232 RCV004689682 RCV004804894

NM_000038.6(APC):c.1626+2T>G

SNV
Germline

Chr5:112828008

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA10578321

rs_876658858

3 SubmittersRCV000215321 RCV003148685

NM_000038.6(APC):c.1691G>A (p.Arg564Gln)

SNV
Germline

Chr5:112828920

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA029022

rs_747418061

9 SubmittersRCV000213578 RCV000779711 RCV001572567 RCV004567640 RCV003998557

NM_000038.6(APC):c.1743+1G>T

SNV
Germline

Chr5:112828973

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578324

rs_761458613

4 SubmittersRCV000217961 RCV004563196

NM_000038.6(APC):c.1743+5C>T

SNV
Germline

Chr5:112828977

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10578325

rs_876658386

4 SubmittersRCV000222937 RCV000482447 RCV000813144

NM_000038.6(APC):c.1866C>A (p.Tyr622Ter)

SNV
Germline

Chr5:112835073

Pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578327

rs_876658355

7 SubmittersRCV000217597 RCV000504287 RCV000584117 RCV002516171

NM_000038.6(APC):c.1873C>T (p.Gln625Ter)

SNV
Germline

Chr5:112835080

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578329

rs_876659517

6 SubmittersRCV000215115 RCV000520225 RCV001194208 RCV004563184

NM_000038.6(APC):c.1959-2A>G

SNV
Germline

Chr5:112837551

Likely pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578331

rs_876658214

5 SubmittersRCV000220818 RCV000501512 RCV002518241

NM_000038.6(APC):c.1984C>A (p.Leu662Ile)

SNV
Germline

Chr5:112837578

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Condition: not provided
Duodenal adenocarcinoma
Rectum adenocarcinoma

Criteria Provided
Conflicting Classifications

CA030573

rs_756859993

10 SubmittersRCV000214596 RCV000474515 RCV000483692 RCV000657144 RCV000677741 RCV000677742

NM_000038.6(APC):c.1999C>T (p.Gln667Ter)

SNV
Germline

Chr5:112837593

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578333

rs_876660130

3 SubmittersRCV000213199 RCV003765431

NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)

SNV
Germline

Chr5:112838068

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
Desmoid disease, hereditary
not specified
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA032224

rs_186641437

9 SubmittersRCV000220641 RCV000485918 RCV000764563 RCV001174911 RCV002515684 RCV004804912

NM_000038.6(APC):c.2485A>G (p.Thr829Ala)

SNV
Germline

Chr5:112838079

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial adenomatous polyposis 1
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA032276

rs_768810807

8 SubmittersRCV000223345 RCV000480119 RCV000766315 RCV002519701 RCV003422123 RCV003997948

NM_000038.6(APC):c.2672T>C (p.Met891Thr)

SNV
Germline

Chr5:112838266

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10578343

rs_876660004

5 SubmittersRCV000220564 RCV002515681 RCV003998003 RCV003477749

NM_000038.6(APC):c.2719G>A (p.Gly907Arg)

SNV
Germline

Chr5:112838313

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA033124

rs_771458366

7 SubmittersRCV000216931 RCV000235531 RCV003765426 RCV003997973

NM_000038.6(APC):c.2870A>G (p.Lys957Arg)

SNV
Germline

Chr5:112838464

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis
not specified

Criteria Provided
Conflicting Classifications

CA033814

rs_777881096

12 SubmittersRCV000220541 RCV000411470 RCV000586497 RCV003997936 RCV004701289

NM_000038.6(APC):c.2993G>T (p.Gly998Val)

SNV
Germline

Chr5:112838587

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA034190

rs_759579036

8 SubmittersRCV000216134 RCV000761125 RCV003325472 RCV003998564

NM_000038.6(APC):c.3084T>A (p.Ser1028Arg)

SNV
Germline

Chr5:112838678

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA10578350

rs_876660265

5 SubmittersRCV000213818 RCV001800574 RCV002515704

NM_000038.6(APC):c.3146G>A (p.Trp1049Ter)

SNV
Germline

Chr5:112838740

Pathogenic

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578351

rs_876658667

4 SubmittersRCV000216288 RCV000508021 RCV003335247

NM_000038.6(APC):c.3161A>C (p.His1054Pro)

SNV
Germline

Chr5:112838755

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA034499

rs_777538550

11 SubmittersRCV000217896 RCV000232950 RCV000236039 RCV000657005 RCV003997981

NM_000038.6(APC):c.3211C>T (p.Gln1071Ter)

SNV
Germline

Chr5:112838805

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578352

rs_876659539

5 SubmittersRCV000214546 RCV000758728 RCV002515653

NM_000038.6(APC):c.3932T>G (p.Ile1311Ser)

SNV
Germline

Chr5:112839526

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA10578361

rs_876659190

4 SubmittersRCV000223153 RCV004563173 RCV004806229

NM_000038.6(APC):c.3964G>A (p.Glu1322Lys)

SNV
Germline

Chr5:112839558

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
6 conditions
APC-related disorder

Criteria Provided
Conflicting Classifications

CA037222

rs_752926571

10 SubmittersRCV000219449 RCV000485020 RCV001818536 RCV003997998 RCV004563195 RCV005031799 RCV004739616

NM_000038.6(APC):c.4310A>G (p.Lys1437Arg)

SNV
Germline

Chr5:112839904

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA038588

rs_745825088

9 SubmittersRCV000220589 RCV000463670 RCV001785522 RCV003320610 RCV003997856

NM_000038.6(APC):c.4376C>G (p.Thr1459Ser)

SNV
Germline

Chr5:112839970

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA038928

rs_756048549

7 SubmittersRCV000214073 RCV000461981 RCV003997841 RCV003477717

NM_000038.6(APC):c.4627A>G (p.Lys1543Glu)

SNV
Germline

Chr5:112840221

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10578378

rs_876658995

2 SubmittersRCV000220113 RCV004563164

NM_000038.6(APC):c.4913T>C (p.Met1638Thr)

SNV
Germline

Chr5:112840507

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
not specified
APC-related disorder
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA040178

rs_201797422

7 SubmittersRCV000213972 RCV000348692 RCV004525836 RCV004725081 RCV004804892 RCV004567582

NM_000038.6(APC):c.5038C>T (p.Gln1680Ter)

SNV
Germline

Chr5:112840632

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA10578390

rs_754122018

6 SubmittersRCV000214118 RCV000507363 RCV001260374 RCV003337254

NM_000038.6(APC):c.5162G>A (p.Gly1721Asp)

SNV
Germline

Chr5:112840756

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA10578397

rs_876660114

4 SubmittersRCV000221896 RCV004563199 RCV004804914

NM_000038.6(APC):c.5378C>G (p.Ala1793Gly)

SNV
Germline

Chr5:112840972

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Condition: not provided
6 conditions
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA041747

rs_764203580

9 SubmittersRCV000218908 RCV000457479 RCV001797685 RCV003126614 RCV005031801 RCV003998563

NM_000038.6(APC):c.5424C>T (p.Asn1808=)

SNV
Germline

Chr5:112841018

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
APC-Associated Polyposis Disorders
APC-related attenuated familial adenomatous polyposis
Gardner syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA041957

rs_747721259

9 SubmittersRCV000216012 RCV001545827 RCV001152937 RCV005361301 RCV004567579

NM_000038.6(APC):c.5465T>G (p.Val1822Gly)

SNV
Germline

Chr5:112841059

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10578404

rs_459552

6 SubmittersRCV000216852 RCV000589084 RCV004589953 RCV004563161

NM_000038.6(APC):c.5524T>A (p.Ser1842Thr)

SNV
Germline

Chr5:112841118

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
APC-Associated Polyposis Disorders
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
APC-related disorder

Criteria Provided
Conflicting Classifications

CA042221

rs_754648125

7 SubmittersRCV000215089 RCV000235925 RCV000271229 RCV003997982 RCV002515673 RCV003947727

NM_000038.6(APC):c.5627G>T (p.Arg1876Met)

SNV
Germline

Chr5:112841221

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
6 conditions
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA042448

rs_773201570

6 SubmittersRCV000217420 RCV000237081 RCV002494584 RCV003997790 RCV004567508

NM_000038.6(APC):c.5918G>A (p.Ser1973Asn)

SNV
Germline

Chr5:112841512

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA10578414

rs_4987109

8 SubmittersRCV000218058 RCV003488476 RCV001563151 RCV002515656 RCV003997947

NM_000038.6(APC):c.5944A>T (p.Lys1982Ter)

SNV
Germline

Chr5:112841538

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578415

rs_876660665

3 SubmittersRCV000217699 RCV003765441

NM_000038.6(APC):c.6213A>G (p.Ile2071Met)

SNV
Germline

Chr5:112841807

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10578423

rs_876660358

3 SubmittersRCV000217724 RCV002515718

NM_000038.6(APC):c.6383C>T (p.Ala2128Val)

SNV
Germline

Chr5:112841977

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
6 conditions
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA044469

rs_753228011

5 SubmittersRCV000213966 RCV001562688 RCV004567629 RCV005031800 RCV004806237

NM_000038.6(APC):c.7105C>T (p.Pro2369Ser)

SNV
Germline

Chr5:112842699

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial adenomatous polyposis 1
6 conditions
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA046951

rs_377308875

12 SubmittersRCV000220467 RCV000236554 RCV001280597 RCV002291603 RCV002478806 RCV003998013

NM_000038.6(APC):c.7284A>G (p.Glu2428=)

SNV
Germline

Chr5:112842878

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10578441

rs_876658194

5 SubmittersRCV000214601 RCV000605613 RCV003407747 RCV004563145

NM_000038.6(APC):c.7471A>G (p.Met2491Val)

SNV
Germline

Chr5:112843065

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA048161

rs_375674083

10 SubmittersRCV000232400 RCV000222149 RCV000758743

NM_000038.6(APC):c.7478T>C (p.Leu2493Pro)

SNV
Germline

Chr5:112843072

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA048192

rs_769889352

8 SubmittersRCV000214237 RCV000481205 RCV000780839 RCV002519728 RCV004806242

NM_000038.6(APC):c.7495G>C (p.Val2499Leu)

SNV
Germline

Chr5:112843089

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA10578444

rs_33941929

8 SubmittersRCV000214829 RCV000758745 RCV003491971 RCV003765411 RCV003997871

NM_000038.6(APC):c.7715C>G (p.Ser2572Ter)

SNV
Germline

Chr5:112843309

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578448

rs_876659280

3 SubmittersRCV000222855 RCV000825577 RCV004567568

NM_000038.6(APC):c.8298C>T (p.Ser2766=)

SNV
Germline

Chr5:112843892

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10578463

rs_876658523

7 SubmittersRCV000215817 RCV001157356 RCV001712099 RCV003997826 RCV004567520

NM_000038.6(APC):c.8514C>G (p.Tyr2838Ter)

SNV
Germline

Chr5:112844108

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10578465

rs_876660375

2 SubmittersRCV000220158 RCV004563209

NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter)

SNV
Germline

Chr1:45331223

Pathogenic

Familial adenomatous polyposis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
MUTYH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10581802

rs_376790729

11 SubmittersRCV000234544 RCV000487112 RCV000571910 RCV004532861

NM_001048174.2(MUTYH):c.606+1G>T

SNV
Germline

Chr1:45332573

Likely pathogenic

Familial adenomatous polyposis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10581808

rs_878854193

4 SubmittersRCV000230698 RCV000482610 RCV002372265

NM_001048174.2(MUTYH):c.381G>A (p.Lys127=)

SNV
Germline

Chr1:45332957

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10581811

rs_878854190

6 SubmittersRCV000231393 RCV000425622 RCV001022864

NM_001128425.2(MUTYH):c.179A>G (p.Glu60Gly)

SNV
Germline

Chr1:45333582

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA10581813

rs_878854187

5 SubmittersRCV000231159 RCV000567365 RCV005365182

NM_001048174.2(MUTYH):c.116-46A>G

SNV
Germline

Chr1:45333607

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA055652

rs_748362676

3 SubmittersRCV000227274 RCV000562716

NM_001128425.2(MUTYH):c.31C>G (p.Leu11Val)

SNV
Germline

Chr1:45340224

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10581815

rs_878854188

3 SubmittersRCV000227994 RCV001019150

NM_000038.6(APC):c.277C>G (p.Leu93Val)

SNV
Germline

Chr5:112767245

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA033407

rs_201567345

14 SubmittersRCV000233150 RCV000491761 RCV000657055 RCV001818550 RCV003998663 RCV004739625

NM_000038.6(APC):c.448A>T (p.Lys150Ter)

SNV
Germline

Chr5:112775654

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10582275

rs_878853444

2 SubmittersRCV000657600 RCV004563238

NM_000038.6(APC):c.757G>A (p.Gly253Ser)

SNV
Germline

Chr5:112801306

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Colon cancer
not specified
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA048563

rs_772806807

14 SubmittersRCV000229496 RCV000562662 RCV001156936 RCV000677749 RCV001193538 RCV003477779 RCV005361364

NM_000038.6(APC):c.764A>G (p.His255Arg)

SNV
Germline

Chr5:112801313

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
APC-related disorder
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA048853

rs_530670052

10 SubmittersRCV000574604 RCV001192799 RCV001699072 RCV003401163 RCV003998691 RCV004563264

NM_000038.6(APC):c.1483A>G (p.Ile495Val)

SNV
Germline

Chr5:112827182

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA027893

rs_372047677

5 SubmittersRCV000492015 RCV003114392 RCV003998657 RCV004567691

NM_000038.6(APC):c.1743+1G>A

SNV
Germline

Chr5:112828973

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
APC-related disorder
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Multiple Submitters
No Conflicts

CA029187

rs_761458613

7 SubmittersRCV000484492 RCV002399804 RCV003401162 RCV002519767 RCV004804940

NM_000038.6(APC):c.2026A>G (p.Ile676Val)

SNV
Germline

Chr5:112837620

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA030596

rs_745529713

9 SubmittersRCV000574116 RCV000679050 RCV002267974 RCV002516262 RCV003998658

NM_000038.6(APC):c.2492T>C (p.Leu831Ser)

SNV
Germline

Chr5:112838086

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10582297

rs_878853427

4 SubmittersRCV002429085 RCV003998660 RCV004567692 RCV004725096

NM_000038.6(APC):c.2795C>G (p.Ser932Ter)

SNV
Germline

Chr5:112838389

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10582301

rs_878853432

2 SubmittersRCV004563231

NM_000038.6(APC):c.3340C>T (p.Arg1114Ter)

SNV
Germline/somatic

Chr5:112838934

Pathogenic

Familial multiple polyposis syndrome
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Familial adenomatous polyposis 1
Neoplasm
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10582306

rs_121913331

14 SubmittersRCV000501152 RCV000491362 RCV001353812 RCV002516270 RCV004668862 RCV001723814

NM_000038.6(APC):c.3391C>T (p.Gln1131Ter)

SNV
Germline

Chr5:112838985

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10582307

rs_878853438

4 SubmittersRCV000430422 RCV000491908 RCV004563234

NM_000038.6(APC):c.4963A>G (p.Thr1655Ala)

SNV
Germline

Chr5:112840557

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis
6 conditions
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10582320

rs_759441332

14 SubmittersRCV000233240 RCV000567766 RCV000590193 RCV003998672 RCV002487042 RCV005365172

NM_000038.6(APC):c.4987G>T (p.Glu1663Ter)

SNV
Germline

Chr5:112840581

Pathogenic/Likely pathogenic

Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10582321

rs_758987855

3 SubmittersRCV002229613 RCV004563243

NM_000038.6(APC):c.5179T>C (p.Cys1727Arg)

SNV
Germline

Chr5:112840773

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA040871

rs_758815860

9 SubmittersRCV000478622 RCV000566764 RCV001328455 RCV003998673 RCV004563245

NM_000038.6(APC):c.5264C>T (p.Ala1755Val)

SNV
Germline

Chr5:112840858

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Ovarian cancer
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA041104

rs_771967537

10 SubmittersRCV000485173 RCV000572688 RCV002465578 RCV003153519 RCV003998674 RCV004563246

NM_000038.6(APC):c.5282A>C (p.Asn1761Thr)

SNV
Germline

Chr5:112840876

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
6 conditions
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10582324

rs_752038930

13 SubmittersRCV000230741 RCV000586532 RCV000573026 RCV003998675 RCV002487043 RCV005365173

NM_000038.6(APC):c.5506G>A (p.Gly1836Arg)

SNV
Germline

Chr5:112841100

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA042181

rs_766739164

9 SubmittersRCV000478919 RCV000561275 RCV001192984 RCV003891805 RCV004563249

NM_000038.6(APC):c.5708A>G (p.Asn1903Ser)

SNV
Germline

Chr5:112841302

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA042707

rs_750404000

8 SubmittersRCV000229356 RCV000506645 RCV000569562 RCV003998677

NM_000038.6(APC):c.5981A>T (p.Asp1994Val)

SNV
Germline

Chr5:112841575

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA043598

rs_774815653

8 SubmittersRCV000571074 RCV000227428 RCV001589165 RCV003998678

NM_000038.6(APC):c.6610C>T (p.Arg2204Ter)

SNV
Germline

Chr5:112842204

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10582333

rs_752654519

4 SubmittersRCV000508240 RCV002372241 RCV004563254

NM_000038.6(APC):c.6741T>C (p.Ser2247=)

SNV
Germline

Chr5:112842335

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10582334

rs_878853464

6 SubmittersRCV000573483 RCV001151802 RCV003998682 RCV004563255

NM_000038.6(APC):c.6785G>T (p.Ser2262Ile)

SNV
Germline

Chr5:112842379

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10582335

rs_878853465

7 SubmittersRCV000581040 RCV004563256 RCV003998684 RCV004546461

NM_000038.6(APC):c.7109G>T (p.Gly2370Val)

SNV
Germline

Chr5:112842703

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
APC-related disorder

Criteria Provided
Conflicting Classifications

CA046963

rs_140079759

9 SubmittersRCV000232680 RCV000236405 RCV000569669 RCV001705238 RCV003977640

NM_000038.6(APC):c.7391C>A (p.Ser2464Tyr)

SNV
Germline

Chr5:112842985

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA047889

rs_766473931

6 SubmittersRCV000484267 RCV000776318 RCV002516295 RCV003998688

NM_000038.6(APC):c.7793C>A (p.Thr2598Asn)

SNV
Germline

Chr5:112843387

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA049224

rs_747339588

10 SubmittersRCV000235712 RCV000563888 RCV000766657 RCV003998692 RCV004567697

NM_000038.6(APC):c.7822G>A (p.Ala2608Thr)

SNV
Germline

Chr5:112843416

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA10582340

rs_878853471

9 SubmittersRCV000227563 RCV000582018 RCV001559106 RCV001731536 RCV003998693

NM_000038.6(APC):c.8306A>G (p.Lys2769Arg)

SNV
Germline

Chr5:112843900

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10582344

rs_878853475

7 SubmittersRCV000572285 RCV001420830 RCV001753683 RCV003998694 RCV004567698

NM_000038.6(APC):c.8412G>T (p.Gln2804His)

SNV
Germline

Chr5:112844006

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10582345

rs_878853476

4 SubmittersRCV001017724 RCV004563268 RCV004998500

NM_001127511.3(APC):c.-191T>C

SNV
Germline

Chr5:112707527

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Gastric adenocarcinoma and proximal polyposis of the stomach
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Multiple Submitters
No Conflicts

CA10584052

rs_879253783

9 SubmittersRCV000234996 RCV001013699 RCV001290975 RCV001559545 RCV005361469

NM_001127511.3(APC):c.-192A>G

SNV
Germline

Chr5:112707526

Likely pathogenic

Gastric adenocarcinoma and proximal polyposis of the stomach
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Multiple Submitters
No Conflicts

CA10584053

rs_879253784

5 SubmittersRCV001290976 RCV001552789 RCV002411065 RCV004567771 RCV005361470

NM_001127511.3(APC):c.-192A>T

SNV
Germline

Chr5:112707526

Likely pathogenic

Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Single Submitter

CA10584054

rs_879253784

2 SubmittersRCV000234988 RCV005361471

NM_001127511.3(APC):c.-190G>A

SNV
Germline

Chr5:112707528

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Periampullary adenoma
Classic or attenuated familial adenomatous polyposis
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10584055

rs_879253785

6 SubmittersRCV000234994 RCV004020914 RCV005365199 RCV004020915

NM_001127511.3(APC):c.-195A>C

SNV
Germline

Chr5:112707523

Pathogenic/Likely pathogenic

Classic or attenuated familial adenomatous polyposis
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10584059

rs_879253782

2 SubmittersRCV005365215 RCV002418092

NM_001048174.2(MUTYH):c.900C>A (p.Asp300Glu)

SNV
Germline

Chr1:45332036

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA10584148

rs_587780752

5 SubmittersRCV000236292 RCV000562155 RCV001344979

NM_001048174.2(MUTYH):c.806G>A (p.Cys269Tyr)

SNV
Germline

Chr1:45332209

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA10584149

rs_879254257

5 SubmittersRCV000236614 RCV001186972 RCV000813716

NM_001048174.2(MUTYH):c.694C>T (p.Gln232Ter)

SNV
Germline

Chr1:45332401

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA059049

rs_773087549

4 SubmittersRCV000235928 RCV001222430

NM_001048174.2(MUTYH):c.306G>A (p.Val102=)

SNV
Germline

Chr1:45333169

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA057723

rs_774780021

5 SubmittersRCV000235986 RCV001021419 RCV001078938

NM_001128425.2(MUTYH):c.36+4C>G

SNV
Germline

Chr1:45340215

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA089489

rs_774530388

7 SubmittersRCV000237070 RCV001020693 RCV000766680 RCV001857808

NM_000038.6(APC):c.-43A>C

SNV
Germline

Chr5:112737901

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
APC-related disorder

Criteria Provided
Conflicting Classifications

CA10584232

rs_879254014

3 SubmittersRCV000235958 RCV000708948 RCV003955387

NM_000038.6(APC):c.422+2T>C

SNV
Germline

Chr5:112767392

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10584235

rs_879254169

6 SubmittersRCV000235994 RCV000411017 RCV002327164

NM_000038.6(APC):c.423-2A>T

SNV
Germline

Chr5:112775627

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10584236

rs_879254087

4 SubmittersRCV000235486 RCV002327162 RCV003337264

NM_000038.6(APC):c.477C>G (p.Tyr159Ter)

SNV
Germline

Chr5:112775683

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Multiple Submitters
No Conflicts

CA10584237

rs_863224281

8 SubmittersRCV000236674 RCV001023029 RCV001844100 RCV002519826 RCV005361476

NM_000038.6(APC):c.646-8T>A

SNV
Germline

Chr5:112792438

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10584238

rs_879254149

5 SubmittersRCV000236430 RCV000771392 RCV003998915 RCV002518445 RCV004719075

NM_000038.6(APC):c.721G>A (p.Glu241Lys)

SNV
Germline

Chr5:112792521

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA047252

rs_777603154

8 SubmittersRCV000236387 RCV000573590 RCV000779732 RCV004563270 RCV003998893

NM_000038.6(APC):c.1548G>C (p.Lys516Asn)

SNV
Germline

Chr5:112827247

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10584241

rs_879254090

7 SubmittersRCV000236999 RCV000491475 RCV000501897 RCV002519828

NM_000038.6(APC):c.1958+3A>G

SNV
Germline

Chr5:112835168

Pathogenic

Condition: not provided
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10584242

rs_879254032

7 SubmittersRCV000235895 RCV000659274 RCV004563272 RCV002418039

NM_000038.6(APC):c.3306C>A (p.Tyr1102Ter)

SNV
Germline

Chr5:112838900

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10584247

rs_879254092

2 SubmittersRCV000235911 RCV003337266

NM_000038.6(APC):c.3593C>G (p.Ser1198Ter)

SNV
Germline

Chr5:112839187

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10584250

rs_879254089

3 SubmittersRCV000236148 RCV002519827

NM_000038.6(APC):c.3691C>T (p.Leu1231Phe)

SNV
Germline

Chr5:112839285

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA036283

rs_573020080

4 SubmittersRCV000236719 RCV001020894 RCV003998894 RCV003765467

NM_000038.6(APC):c.5741C>G (p.Ala1914Gly)

SNV
Germline

Chr5:112841335

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA042819

rs_199904481

6 SubmittersRCV000235260 RCV000567524 RCV002518462 RCV003998923

NM_000038.6(APC):c.5774C>A (p.Pro1925His)

SNV
Germline

Chr5:112841368

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA042917

rs_762682111

8 SubmittersRCV000235310 RCV000465428 RCV000561053 RCV001193573

NM_000038.6(APC):c.6658A>G (p.Asn2220Asp)

SNV
Germline

Chr5:112842252

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA045646

rs_374464049

11 SubmittersRCV000236846 RCV000564209 RCV000657112 RCV002518460 RCV003998921 RCV004739641

NM_000038.6(APC):c.8057T>C (p.Val2686Ala)

SNV
Germline

Chr5:112843651

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
APC-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA049793

rs_757901425

12 SubmittersRCV000236452 RCV000561345 RCV000779729 RCV002518420 RCV003998895 RCV004739638 RCV005031824

NM_000038.6(APC):c.8402G>A (p.Arg2801Gln)

SNV
Germline

Chr5:112843996

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA050715

rs_754363694

8 SubmittersRCV000235635 RCV000581244 RCV002518425 RCV003998899

NM_002439.5(MSH3):c.3001-2A>C

SNV
Germline

Chr5:80864811

Pathogenic

Familial adenomatous polyposis 4

No Assertion Criteria Provided

CA10586319

rs_886037878

1 SubmittersRCV000240222

NM_002439.5(MSH3):c.2319-1G>A

SNV
Germline

Chr5:80778719

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA10586320

rs_866260675

8 SubmittersRCV000240037 RCV001015164 RCV000801200 RCV003463710

NM_000038.6(APC):c.136-2A>G

SNV
Germline

Chr5:112766324

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10588375

rs_886039625

3 SubmittersRCV000254746 RCV004943828 RCV002518766

NM_000038.6(APC):c.1312+5G>C

SNV
Germline

Chr5:112819349

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA10588378

rs_886039507

4 SubmittersRCV000254697 RCV002379096 RCV004563288

NM_000038.6(APC):c.1409-6A>G

SNV
Germline

Chr5:112827102

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10588379

rs_886039508

2 SubmittersRCV000255289 RCV004563289

NM_000038.6(APC):c.1958+3A>T

SNV
Germline

Chr5:112835168

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10588383

rs_879254032

3 SubmittersRCV000255192 RCV002418096 RCV004563292

NM_000038.6(APC):c.3569C>A (p.Ser1190Ter)

SNV
Germline

Chr5:112839163

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10588384

rs_886039618

2 SubmittersRCV000255278 RCV004563291

NM_000038.6(APC):c.531+5G>C

SNV
Germline

Chr5:112775742

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA10602909

rs_587779798

5 SubmittersRCV000322468 RCV000491896 RCV002518800

NM_001048174.2(MUTYH):c.1053G>A (p.Gln351=)

SNV
Germline

Chr1:45331710

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10610023

rs_886046366

4 SubmittersRCV000396487 RCV002321975

NM_001048174.2(MUTYH):c.55C>T (p.Gln19Ter)

SNV
Germline

Chr1:45334451

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA10611140

rs_886046367

1 SubmittersRCV000286237

NM_001048174.2(MUTYH):c.1393-11T>G

SNV
Germline

Chr1:45330568

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
not specified

Criteria Provided
Conflicting Classifications

CA10611305

rs_868701952

3 SubmittersRCV000326756 RCV000600434

NM_001048174.2(MUTYH):c.305-13C>G

SNV
Germline

Chr1:45333183

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA057649

rs_201207780

7 SubmittersRCV000321343 RCV000583739 RCV001618512 RCV002268020

NM_001048174.2(MUTYH):c.-6-14T>A

SNV
Germline

Chr1:45334525

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA058740

rs_587781284

5 SubmittersRCV000372499 RCV000581209 RCV001683194

NM_000038.6(APC):c.5894A>C (p.His1965Pro)

SNV
Germline

Chr5:112841488

Conflicting classifications of pathogenicity

APC-Associated Polyposis Disorders
Hereditary cancer-predisposing syndrome
not specified
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
6 conditions

Criteria Provided
Conflicting Classifications

CA043314

rs_773776516

8 SubmittersRCV000332846 RCV000567246 RCV003320183 RCV003995884 RCV004563302 RCV002480220

NM_000038.6(APC):c.6624A>G (p.Glu2208=)

SNV
Germline

Chr5:112842218

Conflicting classifications of pathogenicity

APC-Associated Polyposis Disorders
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10618785

rs_886059798

5 SubmittersRCV000286227 RCV000464182 RCV001025468 RCV003766023

NM_000038.6(APC):c.3210T>C (p.Asn1070=)

SNV
Germline

Chr5:112838804

Conflicting classifications of pathogenicity

APC-Associated Polyposis Disorders
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA10622257

rs_886059794

5 SubmittersRCV000393847 RCV001019268 RCV004563300 RCV003995881

NM_000038.6(APC):c.5840C>G (p.Thr1947Ser)

SNV
Germline

Chr5:112841434

Conflicting classifications of pathogenicity

APC-Associated Polyposis Disorders
Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA043197

rs_575724078

7 SubmittersRCV000362266 RCV000775335 RCV001821073 RCV002520290 RCV003317196 RCV004806281

NM_000038.6(APC):c.6492C>T (p.Gly2164=)

SNV
Germline

Chr5:112842086

Conflicting classifications of pathogenicity

APC-Associated Polyposis Disorders
not specified
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA045015

rs_765332758

8 SubmittersRCV000331768 RCV000425863 RCV000491294 RCV003995885 RCV004563303

NM_000038.6(APC):c.7903A>G (p.Thr2635Ala)

SNV
Germline

Chr5:112843497

Conflicting classifications of pathogenicity

APC-Associated Polyposis Disorders
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA10622269

rs_886059799

6 SubmittersRCV000261598 RCV000478957 RCV000575871 RCV003766024 RCV003995887

NM_001048174.2(MUTYH):c.1393-1G>A

SNV
Germline

Chr1:45330558

Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16040736

rs_1057517459

4 SubmittersRCV000410065 RCV002392934

NM_001048174.2(MUTYH):c.606+14C>G

SNV
Germline

Chr1:45332560

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Carcinoma of colon
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA058602

rs_752537118

10 SubmittersRCV000411478 RCV000500658 RCV000584440 RCV002264933 RCV001529071

NM_001127511.3(APC):c.71C>T (p.Ser24Phe)

SNV
Germline

Chr5:112707788

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
not specified
APC-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA059369

rs_770241997

5 SubmittersRCV000410042 RCV002465647 RCV003418089 RCV005033926

NM_000038.6(APC):c.280C>A (p.Arg94Ser)

SNV
Germline

Chr5:112767248

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA16021946

rs_550945533

8 SubmittersRCV000409081 RCV001016652 RCV001775785 RCV003153569

NM_000038.6(APC):c.933+2T>C

SNV
Germline

Chr5:112815595

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Multiple Submitters
No Conflicts

CA16042089

rs_1057517559

6 SubmittersRCV000410141 RCV000491460 RCV005431646 RCV004804990

NM_000038.6(APC):c.934-14C>T

SNV
Germline

Chr5:112818952

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Desmoid disease, hereditary

Criteria Provided
Conflicting Classifications

CA051264

rs_778707022

8 SubmittersRCV000410782 RCV000583876 RCV001151509 RCV001618683 RCV003995912 RCV005355696

NM_000038.6(APC):c.1409-17T>G

SNV
Germline

Chr5:112827091

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA027502

rs_764042245

5 SubmittersRCV000409893 RCV000440820 RCV000775130

NM_000038.6(APC):c.1548+2T>C

SNV
Germline

Chr5:112827249

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16042092

rs_1057517561

3 SubmittersRCV000411158 RCV001800661 RCV002402098

NM_000038.6(APC):c.6371T>A (p.Leu2124Ter)

SNV
Germline

Chr5:112841965

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16035281

rs_1057517568

4 SubmittersRCV000409307 RCV002356507

NM_000038.6(APC):c.6965A>G (p.Gln2322Arg)

SNV
Germline

Chr5:112842559

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16036522

rs_1057517549

10 SubmittersRCV000410185 RCV000580861 RCV001194172 RCV001575254 RCV003995909

NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)

SNV
Germline

Chr1:45332466

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 2
Carcinoma of colon
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16042398

rs_1057517765

7 SubmittersRCV000414648 RCV000502397 RCV001353995 RCV001026079

NM_000038.6(APC):c.3916G>T (p.Glu1306Ter)

SNV
Germline

Chr5:112839510

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029925

rs_121913462

4 SubmittersRCV000985300 RCV001180269 RCV004563307

NM_000038.6(APC):c.4099C>T (p.Gln1367Ter)

SNV
Germline

Chr5:112839693

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16030309

rs_121913328

2 SubmittersRCV001815384 RCV004563308

NM_000038.6(APC):c.4132C>T (p.Gln1378Ter)

SNV
Germline

Chr5:112839726

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Colorectal cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA16030382

rs_121913329

3 SubmittersRCV001021924 RCV003337272 RCV005603621

NM_000038.6(APC):c.4135G>T (p.Glu1379Ter)

SNV
Germline

Chr5:112839729

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16030390

rs_121913326

3 SubmittersRCV001725179 RCV004563309

NM_000038.6(APC):c.4285C>T (p.Gln1429Ter)

SNV
Somatic

Chr5:112839879

Pathogenic

Neoplasm
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16030720

rs_74535574

3 SubmittersRCV004668931 RCV004563310

NM_001048174.2(MUTYH):c.379-1G>A

SNV
Germline

Chr1:45332960

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603709

rs_1057520660

6 SubmittersRCV000417586 RCV000553473 RCV001022814

NM_001048174.2(MUTYH):c.492+6G>C

SNV
Germline

Chr1:45332757

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA058309

rs_762573043

2 SubmittersRCV000422138 RCV002524777

NM_001048174.2(MUTYH):c.305-6C>T

SNV
Germline

Chr1:45333176

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA057696

rs_376600220

7 SubmittersRCV000441283 RCV000471644 RCV001284666 RCV000771496

NM_000038.6(APC):c.1744-14C>A

SNV
Germline

Chr5:112834937

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA029374

rs_761403505

8 SubmittersRCV000438531 RCV000580402 RCV000663269 RCV004000396

NM_000038.6(APC):c.2547T>C (p.Asp849=)

SNV
Germline

Chr5:112838141

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Condition: not provided
APC-related disorder
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16604661

rs_766086010

10 SubmittersRCV000491860 RCV001157041 RCV001703526 RCV003912634 RCV003996005 RCV004563312

NM_000038.6(APC):c.4143A>C (p.Pro1381=)

SNV
Germline

Chr5:112839737

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA037761

rs_778565823

10 SubmittersRCV000424349 RCV004022289 RCV000566135 RCV003897840 RCV003995947

NM_000038.6(APC):c.4413A>G (p.Ala1471=)

SNV
Germline

Chr5:112840007

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16604666

rs_964029262

7 SubmittersRCV000445305 RCV000584123 RCV004022290 RCV004806289

NM_000038.6(APC):c.5952T>C (p.Asn1984=)

SNV
Germline

Chr5:112841546

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA043473

rs_142019870

10 SubmittersRCV000432139 RCV000566862 RCV001155578 RCV001703802 RCV003766266 RCV004000392

NM_000038.6(APC):c.933+5C>T

SNV
Germline

Chr5:112815598

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA051247

rs_573528468

7 SubmittersRCV000440101 RCV000985327 RCV000582859 RCV003942408 RCV004567916

NM_000038.6(APC):c.221-5T>C

SNV
Germline

Chr5:112767184

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16604759

rs_1057524155

6 SubmittersRCV000438575 RCV001805053 RCV004022489

NM_000038.6(APC):c.1962A>G (p.Gln654=)

SNV
Germline

Chr5:112837556

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Classic or attenuated familial adenomatous polyposis
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16604770

rs_1057523515

8 SubmittersRCV000775915 RCV000437124 RCV004000523 RCV004719082 RCV003766388

NM_000038.6(APC):c.6453A>C (p.Thr2151=)

SNV
Germline

Chr5:112842047

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
not specified
APC-related disorder

Criteria Provided
Conflicting Classifications

CA16604799

rs_1057524298

9 SubmittersRCV000562381 RCV001721462 RCV003766447 RCV004000566 RCV003387845 RCV003942456

NM_000038.6(APC):c.8199A>G (p.Gln2733=)

SNV
Germline

Chr5:112843793

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA050150

rs_372365378

12 SubmittersRCV000441743 RCV000563752 RCV004000391 RCV004563333 RCV004999394

NM_000038.6(APC):c.1312+12A>G

SNV
Germline

Chr5:112819356

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA027050

rs_372970635

4 SubmittersRCV000441796 RCV000775126 RCV001151510 RCV004563326

NM_000038.6(APC):c.1743+6T>C

SNV
Germline

Chr5:112828978

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA029364

rs_766973462

5 SubmittersRCV000433034 RCV001181807 RCV001703644 RCV003766225 RCV003996063

NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter)

SNV
Germline

Chr1:45331800

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16610113

rs_1060501324

6 SubmittersRCV000476649 RCV001017073

NM_001048174.2(MUTYH):c.1240-4C>G

SNV
Germline

Chr1:45331338

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA16610116

rs_1060504206

2 SubmittersRCV001407283

NM_001048174.2(MUTYH):c.849+2T>G

SNV
Germline

Chr1:45332164

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA16610117

rs_1060501333

1 SubmittersRCV000469962

NM_001048174.2(MUTYH):c.379-1G>C

SNV
Germline

Chr1:45332960

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA16610121

rs_1057520660

1 SubmittersRCV000463536

NM_001048174.2(MUTYH):c.849+10C>T

SNV
Germline

Chr1:45332156

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA16610123

rs_1060504205

2 SubmittersRCV000485527 RCV001078795

NM_001048174.2(MUTYH):c.638G>A (p.Arg213Gln)

SNV
Germline

Chr1:45332457

Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16610124

rs_1060501346

4 SubmittersRCV000459400 RCV000584291

NM_001048174.2(MUTYH):c.2T>C (p.Met1Thr)

SNV
Germline

Chr1:45334504

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
MUTYH-related disorder

Criteria Provided
Conflicting Classifications

CA057589

rs_201163858

8 SubmittersRCV000467236 RCV000478752 RCV000571566 RCV004722769

NM_001048174.2(MUTYH):c.614G>A (p.Gly205Asp)

SNV
Germline

Chr1:45332481

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Gastric cancer
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA058781

rs_147487160

7 SubmittersRCV000460021 RCV000480983 RCV000567412 RCV002480377

NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter)

SNV
Germline

Chr1:45332678

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA058359

rs_745921592

9 SubmittersRCV000475342 RCV000571018 RCV000478506

NM_001048174.2(MUTYH):c.1435-3C>T

SNV
Germline

Chr1:45329440

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA056837

rs_776766717

3 SubmittersRCV000461130 RCV001011886

NM_001048174.2(MUTYH):c.1393-3T>C

SNV
Germline

Chr1:45330560

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16610129

rs_1060501330

2 SubmittersRCV000467602 RCV000491670

NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter)

SNV
Germline

Chr1:45331476

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16610132

rs_1060501321

3 SubmittersRCV000462491 RCV003352871

NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)

SNV
Germline

Chr1:45331503

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA055585

rs_766420907

11 SubmittersRCV000465367 RCV000773657

NM_001048174.2(MUTYH):c.762C>T (p.Ala254=)

SNV
Germline

Chr1:45332253

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16610135

rs_1060504203

3 SubmittersRCV000459748 RCV003317231 RCV004022944

NM_001048174.2(MUTYH):c.492+3A>G

SNV
Germline

Chr1:45332760

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA058305

rs_765792042

4 SubmittersRCV000459616 RCV000561207 RCV001643162

NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter)

SNV
Germline

Chr1:45331462

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16610172

rs_1060501325

3 SubmittersRCV000459274 RCV001010733

NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro)

SNV
Germline

Chr1:45331684

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16610175

rs_1060501335

8 SubmittersRCV000465018 RCV000771347 RCV004701495

NM_001048174.2(MUTYH):c.992C>T (p.Pro331Leu)

SNV
Germline

Chr1:45331771

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16610177

rs_1060501323

6 SubmittersRCV000474007 RCV000481886 RCV000574563

NM_001048174.2(MUTYH):c.764T>C (p.Met255Thr)

SNV
Germline

Chr1:45332251

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16610184

rs_1060501327

3 SubmittersRCV000458648 RCV001188946

NM_000038.6(APC):c.14C>A (p.Ser5Ter)

SNV
Germline

Chr5:112754904

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16021363

rs_373718658

3 SubmittersRCV001011888 RCV003337277

NM_000038.6(APC):c.212G>A (p.Arg71His)

SNV
Germline

Chr5:112766402

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
6 conditions
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA030877

rs_750503329

9 SubmittersRCV000479660 RCV000571928 RCV001192982 RCV002506131 RCV003766575 RCV004001947 RCV004722794

NM_000038.6(APC):c.749A>G (p.His250Arg)

SNV
Germline

Chr5:112801298

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16022971

rs_774296531

6 SubmittersRCV001174654 RCV000570604 RCV004001935 RCV004564067

NM_000038.6(APC):c.761C>G (p.Ser254Ter)

SNV
Germline

Chr5:112801310

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16022997

rs_1060503334

3 SubmittersRCV002393156 RCV003766585

NM_000038.6(APC):c.775C>T (p.Arg259Trp)

SNV
Germline

Chr5:112801324

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA049073

rs_762117133

14 SubmittersRCV000465724 RCV000572577 RCV000779741 RCV001357050 RCV004001981 RCV004740246

NM_000038.6(APC):c.791A>G (p.Gln264Arg)

SNV
Germline

Chr5:112801340

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Desmoid disease, hereditary
Carcinoma of colon
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA049479

rs_369345931

8 SubmittersRCV000483155 RCV000575683 RCV000764559 RCV002525602 RCV004001922

NM_000038.6(APC):c.2096G>A (p.Trp699Ter)

SNV
Germline

Chr5:112837690

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16025907

rs_1060503336

4 SubmittersRCV000491133 RCV002523390

NM_000038.6(APC):c.2145C>T (p.His715=)

SNV
Germline

Chr5:112837739

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16611589

rs_1060504877

6 SubmittersRCV001186640 RCV004023074 RCV004772931 RCV004002213

NM_000038.6(APC):c.2309C>G (p.Ser770Ter)

SNV
Germline

Chr5:112837903

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16026394

rs_1060503310

4 SubmittersRCV000461862 RCV002446835

NM_000038.6(APC):c.2411A>G (p.Asn804Ser)

SNV
Germline

Chr5:112838005

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
not specified

Criteria Provided
Conflicting Classifications

CA031883

rs_775727621

8 SubmittersRCV000483927 RCV000775137 RCV002523366 RCV004001936 RCV005431684

NM_000038.6(APC):c.2414G>A (p.Arg805Gln)

SNV
Germline

Chr5:112838008

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Neoplasm of the liver
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA031897

rs_200593940

10 SubmittersRCV000468198 RCV000677778 RCV000491212 RCV001549488 RCV003479129 RCV003899932 RCV004001982

NM_000038.6(APC):c.136-3C>T

SNV
Germline

Chr5:112766323

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16611599

rs_1060503361

4 SubmittersRCV001577551 RCV001179769 RCV004564123

NM_000038.6(APC):c.2795C>A (p.Ser932Ter)

SNV
Germline

Chr5:112838389

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16027426

rs_878853432

4 SubmittersRCV000506242 RCV002436457 RCV004564054

NM_000038.6(APC):c.330C>T (p.Cys110=)

SNV
Germline

Chr5:112767298

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16611601

rs_1060504887

4 SubmittersRCV000568079 RCV004564151 RCV004999515

NM_000038.6(APC):c.370G>A (p.Val124Ile)

SNV
Germline

Chr5:112767338

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16022128

rs_779945112

2 SubmittersRCV002248689 RCV004564096

NM_000038.6(APC):c.895T>A (p.Ser299Thr)

SNV
Germline

Chr5:112815555

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA051068

rs_763630775

7 SubmittersRCV000460219 RCV000483019 RCV000570515

NM_000038.6(APC):c.3827C>A (p.Ser1276Ter)

SNV
Germline

Chr5:112839421

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029729

rs_1060503299

2 SubmittersRCV002365660 RCV004564078

NM_000038.6(APC):c.1312+5G>A

SNV
Germline

Chr5:112819349

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA16611621

rs_886039507

7 SubmittersRCV000490993 RCV000985284 RCV001192946 RCV003476101

NM_000038.6(APC):c.1626+3A>G

SNV
Germline

Chr5:112828009

Likely pathogenic

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA16611623

rs_1060503372

5 SubmittersRCV000491321 RCV001001783 RCV003148749

NM_000038.6(APC):c.4101G>C (p.Gln1367His)

SNV
Germline

Chr5:112839695

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA037656

rs_761886683

6 SubmittersRCV000570866 RCV000600295 RCV003766580 RCV005243237 RCV004001950

NM_000038.6(APC):c.4124A>G (p.His1375Arg)

SNV
Germline

Chr5:112839718

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA037682

rs_750884499

5 SubmittersRCV000571708 RCV002461206 RCV004001940 RCV004568070

NM_000038.6(APC):c.2240C>G (p.Ser747Ter)

SNV
Germline

Chr5:112837834

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA16026241

rs_773020689

5 SubmittersRCV002429542 RCV003337276

NM_000038.6(APC):c.139G>A (p.Val47Ile)

SNV
Germline

Chr5:112766329

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis
not specified

Criteria Provided
Conflicting Classifications

CA16021649

rs_969611536

7 SubmittersRCV000775730 RCV002523382 RCV002225619 RCV004001951 RCV005418143

NM_000038.6(APC):c.471G>A (p.Trp157Ter)

SNV
Germline

Chr5:112775677

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA16022351

rs_1060503328

8 SubmittersRCV000583237 RCV002339182 RCV002523387

NM_000038.6(APC):c.2966A>G (p.Asp989Gly)

SNV
Germline

Chr5:112838560

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
6 conditions

Criteria Provided
Conflicting Classifications

CA034127

rs_770976457

8 SubmittersRCV000561099 RCV000758725 RCV002526443 RCV004001931 RCV005044701

NM_000038.6(APC):c.4783G>T (p.Ala1595Ser)

SNV
Germline

Chr5:112840377

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16031815

rs_749782426

4 SubmittersRCV000775710 RCV004722796 RCV004564120

NM_000038.6(APC):c.5147A>G (p.Asn1716Ser)

SNV
Germline

Chr5:112840741

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
6 conditions

Criteria Provided
Conflicting Classifications

CA040767

rs_141298709

9 SubmittersRCV000465464 RCV000481145 RCV000572058 RCV004001930 RCV005044700

NM_000038.6(APC):c.4212C>T (p.Ser1404=)

SNV
Germline

Chr5:112839806

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16611648

rs_144655979

10 SubmittersRCV000615951 RCV000492038 RCV000732075 RCV003766648 RCV004002226

NM_000038.6(APC):c.1264G>A (p.Glu422Lys)

SNV
Germline

Chr5:112819296

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
6 conditions

Criteria Provided
Conflicting Classifications

CA026951

rs_755069015

5 SubmittersRCV001184708 RCV002526444 RCV005033993

NM_000038.6(APC):c.1370C>G (p.Ser457Ter)

SNV
Germline

Chr5:112821953

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Multiple Submitters
No Conflicts

CA16024304

rs_1060503333

8 SubmittersRCV000481642 RCV000491762 RCV000508095 RCV004564105 RCV004802020

NM_000038.6(APC):c.1402G>T (p.Glu468Ter)

SNV
Germline

Chr5:112821985

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16024380

rs_1060503340

1 SubmittersRCV003766589

NM_000038.6(APC):c.1408+5G>A

SNV
Germline

Chr5:112821996

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA027457

rs_779919032

6 SubmittersRCV000776253 RCV004564073 RCV004802017 RCV004999473

NM_000038.6(APC):c.1958G>T (p.Arg653Met)

SNV
Germline

Chr5:112835165

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16025598

rs_1060503318

3 SubmittersRCV000491095 RCV003766582

NM_000038.6(APC):c.2097G>A (p.Trp699Ter)

SNV
Germline

Chr5:112837691

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16025910

rs_1060503282

4 SubmittersRCV001800684 RCV002418420 RCV004564065

NM_000038.6(APC):c.8071A>G (p.Asn2691Asp)

SNV
Germline

Chr5:112843665

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16038855

rs_1060503281

12 SubmittersRCV000474824 RCV000569935 RCV000588192 RCV004001928

NM_000038.6(APC):c.2569G>A (p.Gly857Arg)

SNV
Germline

Chr5:112838163

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA032593

rs_745692178

5 SubmittersRCV000568317 RCV004001919 RCV002526440

NM_000038.6(APC):c.2635C>T (p.Gln879Ter)

SNV
Germline

Chr5:112838229

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16027094

rs_1060503287

3 SubmittersRCV002526446 RCV002429543

NM_000038.6(APC):c.5060G>A (p.Arg1687Gln)

SNV
Germline

Chr5:112840654

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
APC-related disorder

Criteria Provided
Conflicting Classifications

CA040507

rs_779068685

9 SubmittersRCV000482697 RCV000580947 RCV001293489 RCV004001970 RCV004564112 RCV003392285

NM_000038.6(APC):c.5308A>G (p.Lys1770Glu)

SNV
Germline

Chr5:112840902

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Hereditary cancer
Classic or attenuated familial adenomatous polyposis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA041323

rs_551183536

9 SubmittersRCV000566944 RCV003401490 RCV003766558 RCV003492060 RCV004001918 RCV001800683

NM_000038.6(APC):c.3419C>G (p.Pro1140Arg)

SNV
Germline

Chr5:112839013

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16028829

rs_1060503351

7 SubmittersRCV000582714 RCV004001974 RCV003225727 RCV004721378

NM_000038.6(APC):c.6790G>T (p.Gly2264Cys)

SNV
Germline

Chr5:112842384

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA046175

rs_755904252

6 SubmittersRCV000571190 RCV001770355 RCV002523357

NM_000038.6(APC):c.5337A>G (p.Ile1779Met)

SNV
Germline

Chr5:112840931

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA041612

rs_748063409

6 SubmittersRCV000566066 RCV001836824 RCV003766566 RCV004001938

NM_000038.6(APC):c.5756A>G (p.Asn1919Ser)

SNV
Germline

Chr5:112841350

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
6 conditions

Criteria Provided
Conflicting Classifications

CA042886

rs_147740612

7 SubmittersRCV000571591 RCV000590887 RCV001283866 RCV004001934 RCV004568068 RCV005033994

NM_000038.6(APC):c.5794A>T (p.Thr1932Ser)

SNV
Germline

Chr5:112841388

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
6 conditions

Criteria Provided
Conflicting Classifications

CA043023

rs_777604445

9 SubmittersRCV000457967 RCV000679070 RCV000561037 RCV004001924 RCV005033992

NM_000038.6(APC):c.6131G>A (p.Ser2044Asn)

SNV
Germline

Chr5:112841725

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA043925

rs_375743017

6 SubmittersRCV000733231 RCV000571749 RCV004564045 RCV004001912

NM_000038.6(APC):c.6682A>G (p.Arg2228Gly)

SNV
Germline

Chr5:112842276

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16035939

rs_199648202

10 SubmittersRCV000571005 RCV002268090 RCV001556005 RCV003766574 RCV004001946

NM_000038.6(APC):c.7540A>G (p.Thr2514Ala)

SNV
Germline

Chr5:112843134

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA048361

rs_545125246

7 SubmittersRCV000575061 RCV001764443 RCV001778967 RCV003409635 RCV002523368

NM_000038.6(APC):c.7696A>C (p.Arg2566=)

SNV
Germline

Chr5:112843290

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16611743

rs_1060504883

7 SubmittersRCV000586267 RCV000775747 RCV003424039 RCV004564148 RCV004002219

NM_000038.6(APC):c.532-8G>A

SNV
Germline

Chr5:112780782

Pathogenic

Carcinoma of colon
Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA16611747

rs_1060503323

6 SubmittersRCV000503571 RCV000491376 RCV002298605 RCV003148748

NM_000038.6(APC):c.776G>A (p.Arg259Gln)

SNV
Germline

Chr5:112801325

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
6 conditions
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA049116

rs_767457050

9 SubmittersRCV000587961 RCV000566711 RCV003320651 RCV004568067 RCV002481465 RCV004001913 RCV004740243

NM_000038.6(APC):c.834G>A (p.Gln278=)

SNV
Germline

Chr5:112801383

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16611754

rs_1060503261

4 SubmittersRCV000491926 RCV001268105 RCV003470484

NM_000038.6(APC):c.8353A>C (p.Asn2785His)

SNV
Germline

Chr5:112843947

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA050563

rs_769736863

6 SubmittersRCV000775356 RCV002523375 RCV004999474

NM_000038.6(APC):c.1096G>A (p.Asp366Asn)

SNV
Germline

Chr5:112819128

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA026688

rs_199562537

7 SubmittersRCV001017272 RCV004001917 RCV002469156 RCV004564050

NM_000038.6(APC):c.1409-5A>G

SNV
Germline

Chr5:112827103

Likely pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA16611764

rs_768109346

3 SubmittersRCV004564070 RCV005384726

NM_000038.6(APC):c.1642T>G (p.Leu548Val)

SNV
Germline

Chr5:112828871

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16024895

rs_1060503373

7 SubmittersRCV000565417 RCV002291636 RCV004022879

NM_000038.6(APC):c.2898T>A (p.Ser966Arg)

SNV
Germline

Chr5:112838492

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16027659

rs_876660579

5 SubmittersRCV001016844 RCV003766552 RCV004806334

NM_000038.6(APC):c.2958T>C (p.Tyr986=)

SNV
Germline

Chr5:112838552

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
APC-Associated Polyposis Disorders
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
APC-related disorder

Criteria Provided
Conflicting Classifications

CA034088

rs_746581330

10 SubmittersRCV000567624 RCV000585539 RCV001157046 RCV004002209 RCV004564134 RCV003925387

NM_000038.6(APC):c.3425A>C (p.Asn1142Thr)

SNV
Germline

Chr5:112839019

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Condition: not provided
6 conditions
Familial adenomatous polyposis 1
not specified

Criteria Provided
Conflicting Classifications

CA035313

rs_138410865

7 SubmittersRCV000561662 RCV004001952 RCV001775817 RCV005033998 RCV004564091 RCV004689746

NM_000038.6(APC):c.3529A>G (p.Ile1177Val)

SNV
Germline

Chr5:112839123

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA035626

rs_369834416

11 SubmittersRCV000473845 RCV000481597 RCV000570317 RCV000779718 RCV004001915

NM_000038.6(APC):c.3578A>G (p.Gln1193Arg)

SNV
Germline

Chr5:112839172

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16029193

rs_1060503260

7 SubmittersRCV000575397 RCV001591101 RCV004564046 RCV004001914

NM_000038.6(APC):c.3959T>A (p.Val1320Glu)

SNV
Germline

Chr5:112839553

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA037191

rs_760485028

9 SubmittersRCV000474367 RCV000583236 RCV001775819 RCV004596203

NM_000038.6(APC):c.4088A>T (p.Lys1363Ile)

SNV
Germline

Chr5:112839682

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA037626

rs_373607243

12 SubmittersRCV000474316 RCV000485843 RCV000771584 RCV004806338 RCV003409636

NM_000038.6(APC):c.4332A>T (p.Gln1444His)

SNV
Germline

Chr5:112839926

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
6 conditions

Criteria Provided
Conflicting Classifications

CA16030825

rs_748342378

9 SubmittersRCV000571742 RCV001550235 RCV002526464 RCV004001983 RCV002489079

NM_000038.6(APC):c.5072C>T (p.Pro1691Leu)

SNV
Germline

Chr5:112840666

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
not specified

Criteria Provided
Conflicting Classifications

CA16032423

rs_1060503346

6 SubmittersRCV000480116 RCV001186460 RCV004001972 RCV004564116 RCV005434940

NM_000038.6(APC):c.5083A>G (p.Arg1695Gly)

SNV
Germline

Chr5:112840677

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA040621

rs_555019540

7 SubmittersRCV000483622 RCV000572779 RCV004001948 RCV003766576

NM_000038.6(APC):c.5957C>T (p.Pro1986Leu)

SNV
Germline

Chr5:112841551

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
not specified
Classic or attenuated familial adenomatous polyposis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA043504

rs_756266694

11 SubmittersRCV000475886 RCV000573470 RCV003479128 RCV004001932 RCV003126748

NM_000038.6(APC):c.6019T>C (p.Tyr2007His)

SNV
Germline

Chr5:112841613

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
APC-Associated Polyposis Disorders
Familial adenomatous polyposis 1
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA043743

rs_745811356

13 SubmittersRCV000561606 RCV000590075 RCV000855566 RCV001157264 RCV002526456 RCV003899931 RCV004001965

NM_000038.6(APC):c.6976C>T (p.Arg2326Ter)

SNV
Germline

Chr5:112842570

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16036541

rs_1060503355

4 SubmittersRCV000985316 RCV001025870 RCV002523400

NM_000038.6(APC):c.8141G>A (p.Arg2714His)

SNV
Germline

Chr5:112843735

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA049981

rs_747362422

11 SubmittersRCV000457741 RCV000571502 RCV000759449 RCV001706640 RCV004001957

NM_001048174.2(MUTYH):c.1531A>G (p.Thr511Ala)

SNV
Germline

Chr1:45329341

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA057086

rs_151196169

5 SubmittersRCV000484560 RCV000583734 RCV001035516

NM_001048174.2(MUTYH):c.1102G>A (p.Gly368Ser)

SNV
Germline

Chr1:45331661

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA16617156

rs_1064795219

3 SubmittersRCV000481734 RCV005372323 RCV004568187

NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter)

SNV
Germline

Chr1:45332576

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16617164

rs_1064796630

6 SubmittersRCV000707275 RCV000487288 RCV001025763

NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp)

SNV
Germline

Chr1:45332786

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial adenomatous polyposis 2
Breast carcinoma
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Conflicting Classifications

CA058212

rs_750592289

10 SubmittersRCV000478161 RCV000562580 RCV001004834 RCV000803247 RCV001643192 RCV005398688

NM_001048174.2(MUTYH):c.421-12T>G

SNV
Germline

Chr1:45332846

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA16617167

rs_890418965

5 SubmittersRCV000580025 RCV000482933 RCV003114605

NM_001048174.2(MUTYH):c.133G>A (p.Glu45Lys)

SNV
Germline

Chr1:45333544

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Conflicting Classifications

CA16617168

rs_1064794128

5 SubmittersRCV000482126 RCV000571169 RCV000692825 RCV002489150

NM_001128425.2(MUTYH):c.196G>A (p.Ala66Thr)

SNV
Germline

Chr1:45333565

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Familial adenomatous polyposis 2
Gastric cancer
MUTYH-related Breast Cancer

Criteria Provided
Conflicting Classifications

CA16617169

rs_1064793421

7 SubmittersRCV000484216 RCV001013877 RCV001062360 RCV002465682 RCV003993979 RCV004698837

NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter)

SNV
Germline

Chr1:45340220

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16617170

rs_1064795596

5 SubmittersRCV000478455 RCV001209233 RCV003168963

NM_000038.6(APC):c.221A>C (p.Glu74Ala)

SNV
Germline

Chr5:112767189

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA031365

rs_773347338

5 SubmittersRCV000484103 RCV000776474 RCV002525819

NM_000038.6(APC):c.262C>T (p.Arg88Trp)

SNV
Germline

Chr5:112767230

Conflicting classifications of pathogenicity

Carcinoma of colon
Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
APC-related disorder

Criteria Provided
Conflicting Classifications

CA032840

rs_746592911

10 SubmittersRCV000484135 RCV000646444 RCV000766533 RCV000574492 RCV002282167 RCV004740259

NM_000038.6(APC):c.350C>A (p.Ser117Ter)

SNV
Germline

Chr5:112767318

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Familial multiple polyposis syndrome
APC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16022086

rs_1064793535

6 SubmittersRCV000482015 RCV000561431 RCV002525784 RCV001824795 RCV004722817

NM_000038.6(APC):c.583C>T (p.Gln195Ter)

SNV
Germline

Chr5:112780841

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16022611

rs_749479682

5 SubmittersRCV000484402 RCV002356778 RCV002525822

NM_000038.6(APC):c.835-8A>G

SNV
Germline/somatic

Chr5:112815487

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Neoplasm

Reviewed By Expert Panel

CA16618069

rs_1064793022

6 SubmittersRCV000486412 RCV002525749 RCV002436523 RCV005230445

NM_000038.6(APC):c.835-4T>G

SNV
Germline

Chr5:112815491

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA050586

rs_756807560

6 SubmittersRCV000776476 RCV000659271 RCV000482851 RCV004564186

NM_000038.6(APC):c.841A>G (p.Thr281Ala)

SNV
Germline

Chr5:112815501

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA050760

rs_769727966

7 SubmittersRCV000478476 RCV000572352 RCV003409657 RCV004568165

NM_000038.6(APC):c.931A>T (p.Lys311Ter)

SNV
Germline

Chr5:112815591

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16023345

rs_1064794114

3 SubmittersRCV000485442 RCV003335355

NM_000038.6(APC):c.1318G>A (p.Ala440Thr)

SNV
Germline

Chr5:112821901

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16024191

rs_1064793023

8 SubmittersRCV000590604 RCV001010961 RCV003470521 RCV003942584 RCV004002234

NM_000038.6(APC):c.1396A>G (p.Met466Val)

SNV
Germline

Chr5:112821979

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA027319

rs_781364007

6 SubmittersRCV000484801 RCV000565633 RCV000677766 RCV002526511

NM_000038.6(APC):c.1405C>T (p.Leu469=)

SNV
Germline

Chr5:112821988

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA027334

rs_746293695

8 SubmittersRCV000587476 RCV000562539 RCV000855609 RCV004003331 RCV003766682

NM_000038.6(APC):c.1409-2A>C

SNV
Germline

Chr5:112827106

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16618072

rs_1064794163

6 SubmittersRCV000484643 RCV004564173 RCV001011425

NM_000038.6(APC):c.1778G>A (p.Trp593Ter)

SNV
Germline

Chr5:112834985

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16025203

rs_1064794226

3 SubmittersRCV000478645 RCV002526560

NM_000038.6(APC):c.1866C>G (p.Tyr622Ter)

SNV
Germline

Chr5:112835073

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Multiple Submitters
No Conflicts

CA16025402

rs_876658355

4 SubmittersRCV000478037 RCV002413324 RCV003337283 RCV005365351

NM_000038.6(APC):c.1876A>G (p.Thr626Ala)

SNV
Germline

Chr5:112835083

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA029787

rs_771748555

6 SubmittersRCV000478621 RCV000491486 RCV002525866 RCV004003349

NM_000038.6(APC):c.1956C>T (p.His652=)

SNV
Germline

Chr5:112835163

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA16618077

rs_1064793716

5 SubmittersRCV000482661 RCV001013836 RCV000502897 RCV002525790

NM_000038.6(APC):c.2209T>C (p.Tyr737His)

SNV
Germline

Chr5:112837803

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA031174

rs_748868815

5 SubmittersRCV000480278 RCV000580908 RCV002526522 RCV004002260

NM_000038.6(APC):c.2677G>T (p.Glu893Ter)

SNV
Germline

Chr5:112838271

Pathogenic/Likely pathogenic

Condition: not provided
Carcinoma of colon
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16027177

rs_199740875

10 SubmittersRCV000485943 RCV000503003 RCV001186210 RCV000786963

NM_000038.6(APC):c.3313C>T (p.Arg1105Trp)

SNV
Germline

Chr5:112838907

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
6 conditions

Criteria Provided
Conflicting Classifications

CA034994

rs_768454793

9 SubmittersRCV000478947 RCV003493598 RCV003470563 RCV001019909 RCV005044720

NM_000038.6(APC):c.3760A>G (p.Ile1254Val)

SNV
Germline

Chr5:112839354

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA036589

rs_769504783

8 SubmittersRCV000564208 RCV000732064 RCV002525751 RCV003962331 RCV004002236

NM_000038.6(APC):c.5486A>G (p.Asn1829Ser)

SNV
Germline

Chr5:112841080

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA042093

rs_767612847

7 SubmittersRCV000483629 RCV000491516 RCV001731707 RCV004002286 RCV003766666

NM_000038.6(APC):c.5723A>G (p.Asn1908Ser)

SNV
Germline

Chr5:112841317

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16033859

rs_1064795748

6 SubmittersRCV002248706 RCV000485630 RCV004564191 RCV002350071 RCV004003374

NM_000038.6(APC):c.6403A>G (p.Ile2135Val)

SNV
Germline

Chr5:112841997

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA044550

rs_757633174

10 SubmittersRCV000480863 RCV000566531 RCV001700391 RCV004568141 RCV004002238

NM_000038.6(APC):c.6952A>G (p.Ser2318Gly)

SNV
Germline

Chr5:112842546

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA046510

rs_747056590

8 SubmittersRCV000563979 RCV000588074 RCV000686468 RCV004002271

NM_000038.6(APC):c.7262C>T (p.Ser2421Leu)

SNV
Germline

Chr5:112842856

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA047405

rs_536557651

7 SubmittersRCV000478319 RCV000564092 RCV002526526 RCV004002272

NM_000038.6(APC):c.8447G>A (p.Arg2816Gln)

SNV
Germline

Chr5:112844041

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA050856

rs_769704991

8 SubmittersRCV000485330 RCV000571556 RCV003470546 RCV004800419 RCV004806354

NM_000038.6(APC):c.323G>A (p.Gly108Glu)

SNV
Germline

Chr5:112767291

Conflicting classifications of pathogenicity

Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
Colorectal cancer, susceptibility to
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
APC-related attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16022027

rs_1114167456

8 SubmittersRCV004003434 RCV004564196 RCV000491472 RCV005235358 RCV000775971 RCV003483636

NM_001128425.2(MUTYH):c.-127C>T

SNV
Germline

Chr1:45340381

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA10670682

rs_3219466

5 SubmittersRCV000491011 RCV000504244 RCV001097391

NM_000038.6(APC):c.531+3A>C

SNV
Germline

Chr5:112775740

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA645369352

rs_1114167550

3 SubmittersRCV000491509 RCV002526067

NM_000038.6(APC):c.607C>T (p.Gln203Ter)

SNV
Germline

Chr5:112780865

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16022667

rs_141576417

3 SubmittersRCV000491579 RCV004564202

NM_000038.6(APC):c.1178C>G (p.Ser393Ter)

SNV
Germline

Chr5:112819210

Pathogenic

Familial multiple polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16023886

rs_1114167545

4 SubmittersRCV003330724 RCV000491623 RCV002527051

NM_000038.6(APC):c.1548G>A (p.Lys516=)

SNV
Germline

Chr5:112827247

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA445756204

rs_879254090

3 SubmittersRCV000491608 RCV004564207

NM_000038.6(APC):c.1548+1G>T

SNV
Germline

Chr5:112827248

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360619894

rs_1114167599

2 SubmittersRCV000491013 RCV004564220

NM_000038.6(APC):c.1743G>C (p.Lys581Asn)

SNV
Germline

Chr5:112828972

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA16025124

rs_1114167592

4 SubmittersRCV000490872 RCV001775830 RCV004568612

NM_000038.6(APC):c.1957A>G (p.Arg653Gly)

SNV
Germline

Chr5:112835164

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16025594

rs_1114167580

4 SubmittersRCV000491162 RCV001357824 RCV002523967

NM_000038.6(APC):c.1958G>A (p.Arg653Lys)

SNV
Germline

Chr5:112835165

Pathogenic

Carcinoma of colon
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16025596

rs_1060503318

4 SubmittersRCV001354779 RCV000491686 RCV004564211 RCV000759416

NM_000038.6(APC):c.1958+1G>A

SNV
Germline

Chr5:112835166

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Carcinoma of colon

Criteria Provided
Multiple Submitters
No Conflicts

CA360623916

rs_1114167569

6 SubmittersRCV000491035 RCV001540866 RCV002523963 RCV000503747

NM_000038.6(APC):c.2527A>G (p.Ser843Gly)

SNV
Germline

Chr5:112838121

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hepatocellular carcinoma
Condition: not provided
not specified
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA032383

rs_536223189

10 SubmittersRCV000491956 RCV000677765 RCV001775829 RCV002465690 RCV002523433 RCV004003444

NM_000038.6(APC):c.2701C>T (p.Gln901Ter)

SNV
Germline

Chr5:112838295

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16027226

rs_1114167559

2 SubmittersRCV000491829 RCV004564206

NM_000038.6(APC):c.2764C>T (p.Leu922Phe)

SNV
Germline

Chr5:112838358

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA033363

rs_150543576

6 SubmittersRCV004568614 RCV000491333 RCV001539766 RCV000779717

NM_000038.6(APC):c.3083G>A (p.Ser1028Asn)

SNV
Germline

Chr5:112838677

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA16028084

rs_1114167617

4 SubmittersRCV000491338 RCV002523975

NM_000038.6(APC):c.3571C>T (p.Gln1191Ter)

SNV
Germline

Chr5:112839165

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16029176

rs_1114167547

4 SubmittersRCV000584042 RCV002527052 RCV000491728

NM_000038.6(APC):c.3665C>A (p.Ser1222Ter)

SNV
Germline

Chr5:112839259

Pathogenic

Classic or attenuated familial adenomatous polyposis
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029377

rs_1114167614

4 SubmittersRCV004003450 RCV000491161 RCV004564225

NM_000038.6(APC):c.4031C>G (p.Ser1344Ter)

SNV
Germline

Chr5:112839625

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16030168

rs_1114167578

3 SubmittersRCV000491265 RCV003335387

NM_000038.6(APC):c.4057G>T (p.Glu1353Ter)

SNV
Germline/somatic

Chr5:112839651

Pathogenic

Neoplasm
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16030222

rs_1114167568

4 SubmittersRCV005230960 RCV000491310 RCV004564208

NM_000038.6(APC):c.4549C>T (p.Gln1517Ter)

SNV
Germline

Chr5:112840143

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA16031287

rs_1114167596

4 SubmittersRCV000490964 RCV001310097 RCV003159591

NM_000038.6(APC):c.6905C>G (p.Ser2302Ter)

SNV
Germline

Chr5:112842499

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA046422

rs_767372014

2 SubmittersRCV000491546 RCV005415573

NM_000038.6(APC):c.7150T>A (p.Leu2384Ile)

SNV
Germline

Chr5:112842744

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA047103

rs_755345693

9 SubmittersRCV000491662 RCV000698172 RCV002282173 RCV004003445

NM_000038.6(APC):c.422+2T>G

SNV
Germline

Chr5:112767392

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360617477

rs_879254169

3 SubmittersRCV000494112 RCV002523995

NM_000038.6(APC):c.1886T>G (p.Leu629Ter)

SNV
Germline

Chr5:112835093

Pathogenic

Carcinoma of colon
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16025443

rs_1019221239

3 SubmittersRCV000502700 RCV004564227 RCV000493755

NM_000038.6(APC):c.5001T>A (p.Asn1667Lys)

SNV
Germline

Chr5:112840595

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16032274

rs_1131691138

5 SubmittersRCV003766766 RCV004999535 RCV000494666 RCV004003476

NM_000038.6(APC):c.203T>G (p.Leu68Ter)

SNV
Germline

Chr5:112766393

Pathogenic

Carcinoma of colon
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16021788

rs_1554069549

3 SubmittersRCV000501918 RCV003335409

NM_000038.6(APC):c.220+1G>A

SNV
Germline

Chr5:112766411

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA360617465

rs_1554069570

5 SubmittersRCV000499663 RCV002431451

NM_000038.6(APC):c.667C>T (p.Gln223Ter)

SNV
Germline

Chr5:112792467

Pathogenic

Familial multiple polyposis syndrome
Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16022794

rs_1554074738

6 SubmittersRCV000502052 RCV000657601 RCV002524123 RCV005453001

NM_000038.6(APC):c.706C>T (p.Gln236Ter)

SNV
Germline

Chr5:112792506

Pathogenic

Carcinoma of colon
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16022877

rs_1554074786

4 SubmittersRCV000504016 RCV004564230 RCV002367679

NM_000038.6(APC):c.835-7T>G

SNV
Germline

Chr5:112815488

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA645372415

rs_1554079128

4 SubmittersRCV000500835 RCV002527170

NM_000038.6(APC):c.1370C>A (p.Ser457Ter)

SNV
Germline

Chr5:112821953

Pathogenic

Carcinoma of colon
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Colonic neoplasm
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16024303

rs_1060503333

7 SubmittersRCV000501164 RCV001186209 RCV002524125 RCV001643225 RCV002286743

NM_000038.6(APC):c.1409-1G>A

SNV
Germline/somatic

Chr5:112827107

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA360619890

rs_863225313

6 SubmittersRCV000502954 RCV002395209 RCV004564231 RCV005230975

NM_000038.6(APC):c.1744-4C>G

SNV
Germline

Chr5:112834947

Pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA645372420

rs_772745309

3 SubmittersRCV001012986 RCV000504229 RCV004564233

NM_000038.6(APC):c.1779G>A (p.Trp593Ter)

SNV
Germline

Chr5:112834986

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
6 conditions
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16025206

rs_1554083132

6 SubmittersRCV000504103 RCV000708599 RCV004796209 RCV004564234

NM_000038.6(APC):c.2093T>G (p.Leu698Ter)

SNV
Germline

Chr5:112837687

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16025901

rs_137854582

3 SubmittersRCV000502286 RCV004564235 RCV002420270

NM_000038.6(APC):c.2950G>T (p.Glu984Ter)

SNV
Germline

Chr5:112838544

Pathogenic/Likely pathogenic

Carcinoma of colon
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16027776

rs_1254176854

4 SubmittersRCV000500319 RCV002524127 RCV005453002

NM_000038.6(APC):c.2995C>T (p.Gln999Ter)

SNV
Germline

Chr5:112838589

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16027884

rs_75239284

6 SubmittersRCV000502386 RCV004564236 RCV005372332

NM_000038.6(APC):c.3454C>T (p.Gln1152Ter)

SNV
Germline

Chr5:112839048

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16028909

rs_1064795228

4 SubmittersRCV000499959 RCV004564238 RCV005372333

NM_000038.6(APC):c.3542T>A (p.Leu1181Ter)

SNV
Germline

Chr5:112839136

Pathogenic

Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029114

rs_1554085102

2 SubmittersRCV000503307 RCV003337299

NM_000038.6(APC):c.3682C>T (p.Gln1228Ter)

SNV
Germline

Chr5:112839276

Pathogenic

Carcinoma of colon
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029415

rs_1554085227

3 SubmittersRCV000500372 RCV002350114 RCV003335424

NM_000038.6(APC):c.3766C>T (p.Gln1256Ter)

SNV
Germline

Chr5:112839360

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029592

rs_77056664

3 SubmittersRCV000502893 RCV001258086

NM_000038.6(APC):c.4405C>T (p.Gln1469Ter)

SNV
Germline

Chr5:112839999

Pathogenic

Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16030978

rs_1060503288

3 SubmittersRCV000503990 RCV004564240

NM_000038.6(APC):c.4660G>T (p.Glu1554Ter)

SNV
Germline

Chr5:112840254

Pathogenic

Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16031547

rs_1392778905

3 SubmittersRCV000504432 RCV004564241

NM_001048174.2(MUTYH):c.877G>C (p.Gly293Arg)

SNV
Germline

Chr1:45332059

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340134139

rs_765686051

4 SubmittersRCV000705044 RCV001551819 RCV003343876

NM_000038.6(APC):c.1333C>T (p.Gln445Ter)

SNV
Germline

Chr5:112821916

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA16024224

rs_876658802

4 SubmittersRCV000505931 RCV000567238 RCV004564245

NM_000038.6(APC):c.1744-2A>T

SNV
Germline

Chr5:112834949

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360622290

rs_587783035

2 SubmittersRCV000508259 RCV003766868

NM_000038.6(APC):c.1925T>C (p.Val642Ala)

SNV
Germline

Chr5:112835132

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary cancer
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA029918

rs_759528091

5 SubmittersRCV000506828 RCV001188846 RCV004701574 RCV000646398

NM_000038.6(APC):c.1941T>C (p.Ala647=)

SNV
Germline

Chr5:112835148

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445758943

rs_1554083247

4 SubmittersRCV000507418 RCV002413386 RCV003766869

NM_000038.6(APC):c.6496C>T (p.Arg2166Ter)

SNV
Germline

Chr5:112842090

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16035547

rs_764527706

3 SubmittersRCV000507179 RCV002527337

NM_000038.6(APC):c.532-1G>A

SNV
Germline

Chr5:112780789

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA360617495

rs_1554072547

5 SubmittersRCV002527346 RCV000506699 RCV002350126

NM_000038.6(APC):c.834+1G>A

SNV
Germline

Chr5:112801384

Pathogenic/Likely pathogenic

not specified
Familial adenomatous polyposis 1
Carcinoma of colon
Hereditary cancer-predisposing syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA360618290

rs_1554076225

5 SubmittersRCV000507726 RCV004564252 RCV001356878 RCV002413392 RCV005034052

NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)

SNV
Germline

Chr1:45332279

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Gastric cancer
Familial adenomatous polyposis 2
Gastric cancer
MUTYH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA059263

rs_769237459

12 SubmittersRCV000519616 RCV000570778 RCV000640346 RCV003159665 RCV004796223 RCV004740303

NM_000038.6(APC):c.1263G>A (p.Trp421Ter)

SNV
Germline

Chr5:112819295

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1
APC-Associated Polyposis Disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA16024066

rs_1554080106

4 SubmittersRCV000521866 RCV004561492 RCV005420208

NM_000038.6(APC):c.4033G>T (p.Glu1345Ter)

SNV
Germline

Chr5:112839627

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16030172

rs_1211642532

2 SubmittersRCV000522251 RCV003335447

NM_000038.6(APC):c.4585C>T (p.Gln1529Ter)

SNV
Germline

Chr5:112840179

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16031371

rs_1554085992

2 SubmittersRCV000519138 RCV004561493

NM_000038.6(APC):c.4831C>T (p.Gln1611Ter)

SNV
Germline

Chr5:112840425

Pathogenic/Likely pathogenic

Condition: not provided
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA16031917

rs_774847203

5 SubmittersRCV000521142 RCV000780834 RCV004561494 RCV005034067

NM_001048174.2(MUTYH):c.1349A>G (p.Gln450Arg)

SNV
Germline

Chr1:45331225

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Conflicting Classifications

CA340132596

rs_774607582

5 SubmittersRCV000551676 RCV000777223 RCV005018933

NM_001048174.2(MUTYH):c.1484G>A (p.Arg495His)

SNV
Germline

Chr1:45329388

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Conflicting Classifications

CA056971

rs_374655042

5 SubmittersRCV000546791 RCV000566156 RCV002298653 RCV005357583

NM_001048174.2(MUTYH):c.265-5G>A

SNV
Germline

Chr1:45333329

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA21839521

rs_1003387951

3 SubmittersRCV000571211 RCV000552672

NM_001048174.2(MUTYH):c.242G>C (p.Arg81Pro)

SNV
Germline

Chr1:45333435

Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA057382

rs_761763725

6 SubmittersRCV000532016 RCV001019554 RCV002261103

NM_001127511.3(APC):c.-204A>G

SNV
Germline

Chr5:112707514

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hepatocellular carcinoma
Neoplasm of stomach
Desmoid disease, hereditary
Carcinoma of colon
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA124924789

rs_554351451

3 SubmittersRCV000764556 RCV003935480 RCV004568906

NM_001127511.3(APC):c.-166C>T

SNV
Germline

Chr5:112707552

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA124924880

rs_904001781

3 SubmittersRCV002526234 RCV003320685 RCV003424124

NM_001127511.3(APC):c.-151G>C

SNV
Germline

Chr5:112707567

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA124924903

rs_1029997545

3 SubmittersRCV002526231 RCV003326458

NM_001127511.3(APC):c.-126G>T

SNV
Germline

Chr5:112707592

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
not specified

Criteria Provided
Conflicting Classifications

CA124925003

rs_948080320

4 SubmittersRCV001183244 RCV001704678 RCV004561542 RCV005231056

NM_001127511.3(APC):c.133C>T (p.Arg45Cys)

SNV
Germline

Chr5:112707850

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
not specified
APC-related disorder

Criteria Provided
Conflicting Classifications

CA053936

rs_755954869

4 SubmittersRCV004568881 RCV003320681 RCV004740315

NM_000038.6(APC):c.423-9A>G

SNV
Germline

Chr5:112775620

Likely pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA658657473

rs_1554071494

4 SubmittersRCV004561584 RCV004943984

NM_000038.6(APC):c.697C>T (p.Gln233Ter)

SNV
Germline

Chr5:112792497

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
APC-Associated Polyposis Disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA16022857

rs_1554074772

4 SubmittersRCV000563146 RCV002527857 RCV003330781

NM_000038.6(APC):c.800G>A (p.Gly267Glu)

SNV
Germline

Chr5:112801349

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA049608

rs_747759906

4 SubmittersRCV000575724 RCV004561619

NM_000038.6(APC):c.934-2A>G

SNV
Germline

Chr5:112818964

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA360619186

rs_1554079938

5 SubmittersRCV000568263 RCV001764583 RCV004569049 RCV003999447

NM_000038.6(APC):c.1193A>G (p.Lys398Arg)

SNV
Germline

Chr5:112819225

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
6 conditions
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA026866

rs_145912662

9 SubmittersRCV000572587 RCV001174750 RCV002491068 RCV003322784 RCV004561501 RCV003999359

NM_000038.6(APC):c.1627-3C>T

SNV
Germline

Chr5:112828853

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA658655947

rs_1554082079

2 SubmittersRCV002404499 RCV004568847

NM_000038.6(APC):c.1762G>A (p.Val588Ile)

SNV
Germline

Chr5:112834969

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Desmoid disease, hereditary
Neoplasm of stomach
Familial adenomatous polyposis 1
Carcinoma of colon
Hepatocellular carcinoma
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Condition: not provided
Ovarian cancer
not specified
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA029508

rs_372416031

13 SubmittersRCV000554226 RCV000764562 RCV000561260 RCV001356454 RCV005000185 RCV003153714 RCV003493637 RCV003403312 RCV003999361

NM_000038.6(APC):c.2566C>T (p.Arg856Cys)

SNV
Germline

Chr5:112838160

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA032524

rs_566005215

5 SubmittersRCV001015969 RCV001577894 RCV003767012 RCV003999370

NM_000038.6(APC):c.3306C>G (p.Tyr1102Ter)

SNV
Germline

Chr5:112838900

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16028590

rs_879254092

3 SubmittersRCV002456175 RCV003337309

NM_000038.6(APC):c.3316G>T (p.Gly1106Ter)

SNV
Germline

Chr5:112838910

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16028608

rs_1554084921

1 SubmittersRCV004568927

NM_000038.6(APC):c.3880C>T (p.Gln1294Ter)

SNV
Germline

Chr5:112839474

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029846

rs_1554085373

6 SubmittersRCV001186211 RCV001528293 RCV004561580

NM_001127511.3(APC):c.-140C>G

SNV
Germline

Chr5:112707578

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
not specified

Criteria Provided
Conflicting Classifications

CA124924916

rs_775297664

3 SubmittersRCV000762155 RCV002526229 RCV005231057

NM_000038.6(APC):c.5341C>T (p.Gln1781Ter)

SNV
Germline

Chr5:112840935

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16033005

rs_1554086653

2 SubmittersRCV004561591

NM_001127511.3(APC):c.16G>A (p.Gly6Ser)

SNV
Germline

Chr5:112707733

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA124925107

rs_1043505718

2 SubmittersRCV000679422 RCV004561530

NM_000038.6(APC):c.221-5T>G

SNV
Germline

Chr5:112767184

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA658657472

rs_1057524155

2 SubmittersRCV002431655 RCV004568856

NM_000038.6(APC):c.295C>A (p.Arg99=)

SNV
Germline

Chr5:112767263

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA445753285

rs_139196838

5 SubmittersRCV003584661 RCV003767015 RCV003999378

NM_000038.6(APC):c.532-6T>C

SNV
Germline

Chr5:112780784

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA658657477

rs_1554072543

3 SubmittersRCV001775867 RCV004561593

NM_000038.6(APC):c.634A>G (p.Lys212Glu)

SNV
Germline

Chr5:112780892

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA044408

rs_771232437

3 SubmittersRCV005463015 RCV004568995 RCV004787892

NM_000038.6(APC):c.5527C>A (p.Pro1843Thr)

SNV
Germline

Chr5:112841121

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16033423

rs_1461006300

6 SubmittersRCV000567213 RCV001805184 RCV003313099 RCV004568976 RCV003999402

NM_000038.6(APC):c.768T>G (p.Asp256Glu)

SNV
Germline

Chr5:112801317

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Desmoid disease, hereditary
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16023012

rs_764268036

8 SubmittersRCV001026715 RCV000985321 RCV005357598 RCV003999432 RCV004569022

NM_000038.6(APC):c.6256C>G (p.Pro2086Ala)

SNV
Germline

Chr5:112841850

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA044235

rs_780667260

3 SubmittersRCV001190911 RCV004568991

NM_000038.6(APC):c.948T>G (p.Tyr316Ter)

SNV
Germline

Chr5:112818980

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16023385

rs_748010172

1 SubmittersRCV004569050

NM_000038.6(APC):c.1408+3A>G

SNV
Germline

Chr5:112821994

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA027425

rs_534358523

8 SubmittersRCV000567805 RCV002265797 RCV002291663 RCV003478165 RCV003999360

NM_000038.6(APC):c.6623A>C (p.Glu2208Ala)

SNV
Germline

Chr5:112842217

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA045546

rs_777612081

5 SubmittersRCV000775343 RCV003476297 RCV003999417

NM_000038.6(APC):c.6887G>A (p.Ser2296Asn)

SNV
Germline

Chr5:112842481

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16036358

rs_919611781

7 SubmittersRCV000566475 RCV001151805 RCV002298659 RCV004561607

NM_000038.6(APC):c.1983T>A (p.Cys661Ter)

SNV
Germline

Chr5:112837577

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16025651

rs_1554083862

1 SubmittersRCV004561511

NM_000038.6(APC):c.2909G>A (p.Ser970Asn)

SNV
Germline

Chr5:112838503

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA033901

rs_767473403

5 SubmittersRCV000579991 RCV001357578 RCV004568876 RCV004806428

NM_001127511.3(APC):c.-188C>T

SNV
Germline

Chr5:112707530

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA124924833

rs_761454123

4 SubmittersRCV001524617 RCV002465709 RCV004561553 RCV004772978

NM_000038.6(APC):c.3428A>G (p.Tyr1143Cys)

SNV
Germline

Chr5:112839022

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16028846

rs_1419180532

6 SubmittersRCV000571619 RCV001800755 RCV003999383 RCV004561578

NM_001127511.3(APC):c.-128G>C

SNV
Germline

Chr5:112707590

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hepatocellular carcinoma
Neoplasm of stomach
Desmoid disease, hereditary
Carcinoma of colon
APC-related disorder
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA124924970

rs_543098847

4 SubmittersRCV000764557 RCV003960352 RCV004561543 RCV004584747

NM_001127511.3(APC):c.-79G>A

SNV
Germline

Chr5:112707639

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
not specified

Criteria Provided
Conflicting Classifications

CA561890262

rs_1369181601

2 SubmittersRCV004568891 RCV004596252

NM_000038.6(APC):c.4343C>T (p.Thr1448Ile)

SNV
Germline

Chr5:112839937

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16030848

rs_907886109

7 SubmittersRCV000708640 RCV001155476 RCV002526273 RCV003328596 RCV003999394

NM_001127511.3(APC):c.48T>G (p.Ser16=)

SNV
Germline

Chr5:112707765

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA124925134

rs_980704771

2 SubmittersRCV004561529 RCV005426143

NM_000038.6(APC):c.6512G>A (p.Gly2171Glu)

SNV
Germline

Chr5:112842106

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Cancer or benign tumor

Criteria Provided
Conflicting Classifications

CA045165

rs_748745776

9 SubmittersRCV000566022 RCV000606972 RCV003128660 RCV002527852 RCV004806437 RCV005625677

NM_000038.6(APC):c.638G>A (p.Arg213Gln)

SNV
Germline

Chr5:112780896

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16022735

rs_1235428754

5 SubmittersRCV000602624 RCV000583903 RCV004568997 RCV003999413

NM_000038.6(APC):c.802G>T (p.Glu268Ter)

SNV
Germline

Chr5:112801351

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16023083

rs_1326410920

3 SubmittersRCV002413578 RCV002527881

NM_000038.6(APC):c.7772A>C (p.His2591Pro)

SNV
Germline

Chr5:112843366

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA049129

rs_375393416

4 SubmittersRCV000572011 RCV004569025 RCV004721432

NM_000038.6(APC):c.832C>T (p.Gln278Ter)

SNV
Germline

Chr5:112801381

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16023148

rs_1554076217

3 SubmittersRCV000583390 RCV004561623

NM_000038.6(APC):c.1548+1G>A

SNV
Germline

Chr5:112827248

Pathogenic

Familial multiple polyposis syndrome
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA360619892

rs_1114167599

5 SubmittersRCV004017676 RCV002526174 RCV004649196

NM_000038.6(APC):c.2359A>G (p.Ser787Gly)

SNV
Germline

Chr5:112837953

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA031761

rs_748075979

5 SubmittersRCV000566086 RCV003470761 RCV003999368

NM_000038.6(APC):c.2991T>G (p.Tyr997Ter)

SNV
Germline

Chr5:112838585

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16027877

rs_864622629

1 SubmittersRCV004568878

NM_000038.6(APC):c.3083G>T (p.Ser1028Ile)

SNV
Germline

Chr5:112838677

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA16028086

rs_1114167617

5 SubmittersRCV001018532 RCV001724055 RCV002526253

NM_000038.6(APC):c.3184C>T (p.Gln1062Ter)

SNV
Germline

Chr5:112838778

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16028314

rs_1554084818

3 SubmittersRCV002324008 RCV004561576

NM_000038.6(APC):c.3980C>G (p.Ser1327Ter)

SNV
Germline

Chr5:112839574

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16030059

rs_1554085429

2 SubmittersRCV004561581

NM_000038.6(APC):c.4100A>G (p.Gln1367Arg)

SNV
Germline

Chr5:112839694

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Classic or attenuated familial adenomatous polyposis
APC-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA16030311

rs_1399790840

11 SubmittersRCV000532247 RCV000573595 RCV000611032 RCV002508225 RCV003999390 RCV003403314 RCV005034101

NM_000038.6(APC):c.5125A>T (p.Thr1709Ser)

SNV
Germline

Chr5:112840719

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16032532

rs_1554086463

4 SubmittersRCV001189874 RCV001775866 RCV004568964

NM_000038.6(APC):c.5500G>A (p.Val1834Ile)

SNV
Germline

Chr5:112841094

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA042161

rs_555944438

6 SubmittersRCV000584452 RCV000679067 RCV004561596

NM_000038.6(APC):c.5894A>G (p.His1965Arg)

SNV
Germline

Chr5:112841488

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
not specified
Classic or attenuated familial adenomatous polyposis
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16034228

rs_773776516

8 SubmittersRCV000776164 RCV001155577 RCV002268157 RCV003999407 RCV003419972 RCV004561598

NM_000038.6(APC):c.6065C>G (p.Ser2022Ter)

SNV
Germline

Chr5:112841659

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16034606

rs_1554087174

2 SubmittersRCV004561599

NM_000038.6(APC):c.6554G>A (p.Ser2185Asn)

SNV
Germline

Chr5:112842148

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA045325

rs_764255983

6 SubmittersRCV000573529 RCV001569317 RCV002526312 RCV003409800 RCV003999415

NM_000038.6(APC):c.468C>G (p.Asp156Glu)

SNV
Germline

Chr5:112775674

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
6 conditions

Criteria Provided
Conflicting Classifications

CA039593

rs_752627126

9 SubmittersRCV000567343 RCV001193497 RCV003332195 RCV004561587 RCV003999396 RCV005044826

NM_000038.6(APC):c.7832C>A (p.Thr2611Lys)

SNV
Germline

Chr5:112843426

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA049276

rs_587778037

6 SubmittersRCV000572911 RCV001558793 RCV002527879 RCV004806441

NM_000038.6(APC):c.2621C>G (p.Ser874Ter)

SNV
Germline

Chr5:112838215

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16027067

rs_1554084318

3 SubmittersRCV000758723 RCV004561519

NM_000038.6(APC):c.3629A>T (p.His1210Leu)

SNV
Germline

Chr5:112839223

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Familial adenomatous polyposis 1
Attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA035977

rs_756346998

5 SubmittersRCV000582171 RCV004568935 RCV003483665

NM_000038.6(APC):c.4796C>G (p.Ser1599Ter)

SNV
Germline

Chr5:112840390

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16031843

rs_1554086212

2 SubmittersRCV001092763 RCV004568958

NM_000038.6(APC):c.5384C>G (p.Ser1795Ter)

SNV
Germline

Chr5:112840978

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16033098

rs_1554086694

1 SubmittersRCV004561594

NM_000038.6(APC):c.6508C>T (p.Pro2170Ser)

SNV
Germline

Chr5:112842102

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16035571

rs_1229142303

3 SubmittersRCV002358548 RCV003470762

NM_000038.6(APC):c.7779C>T (p.Asn2593=)

SNV
Germline

Chr5:112843373

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA446211221

rs_1425732484

6 SubmittersRCV000777224 RCV003999434 RCV004569026 RCV005000188

NM_001048174.2(MUTYH):c.1544G>A (p.Ser515Asn)

SNV
Germline

Chr1:45329328

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA340131538

rs_1553122804

3 SubmittersRCV000563136 RCV001755946 RCV001037770

NM_001048174.2(MUTYH):c.1439C>A (p.Ser480Tyr)

SNV
Germline

Chr1:45329433

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA340131960

rs_1161972119

3 SubmittersRCV000576123 RCV000640350

NM_001048174.2(MUTYH):c.944T>C (p.Leu315Pro)

SNV
Germline

Chr1:45331819

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA340133832

rs_1553126942

2 SubmittersRCV000567719 RCV001858312

NM_001048174.2(MUTYH):c.869T>C (p.Leu290Ser)

SNV
Germline

Chr1:45332067

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified

Criteria Provided
Conflicting Classifications

CA340134170

rs_1362124228

4 SubmittersRCV000563921 RCV001237859 RCV005438009

NM_001048174.2(MUTYH):c.378+2T>G

SNV
Germline

Chr1:45333095

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340136052

rs_1553129521

3 SubmittersRCV000567036 RCV001853780

NM_001048174.2(MUTYH):c.1102+5C>G

SNV
Germline

Chr1:45331656

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA658656921

rs_1553126284

3 SubmittersRCV000565746 RCV000612831 RCV001858195

NM_001048174.2(MUTYH):c.493-2A>G

SNV
Germline

Chr1:45332689

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340135492

rs_1553128663

3 SubmittersRCV000561898 RCV000707104

NM_001048174.2(MUTYH):c.493-5A>T

SNV
Germline

Chr1:45332692

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified

Criteria Provided
Conflicting Classifications

CA21838634

rs_758377868

5 SubmittersRCV000566392 RCV000640415 RCV000610055

NM_001048174.2(MUTYH):c.613G>C (p.Gly205Arg)

SNV
Germline

Chr1:45332482

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA058769

rs_377639760

6 SubmittersRCV000567047 RCV001371217 RCV003478260

NM_001048174.2(MUTYH):c.277A>G (p.Met93Val)

SNV
Germline

Chr1:45333312

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA340136286

rs_1553129862

3 SubmittersRCV000573959 RCV001051371

NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter)

SNV
Germline

Chr1:45333513

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA057154

rs_370124822

5 SubmittersRCV000570847 RCV000576504 RCV000657766

NM_001048174.2(MUTYH):c.607-3C>T

SNV
Germline

Chr1:45332491

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA658656925

rs_1553128253

2 SubmittersRCV000563766 RCV003505120

NM_001048174.2(MUTYH):c.606G>A (p.Gln202=)

SNV
Germline

Chr1:45332574

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA21838430

rs_199989617

8 SubmittersRCV000567080 RCV000702233 RCV000759166 RCV005027666

NM_001128425.2(MUTYH):c.8C>G (p.Pro3Arg)

SNV
Germline

Chr1:45340247

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA089510

rs_745424307

3 SubmittersRCV000572771 RCV000695272

NM_001128425.2(MUTYH):c.188G>A (p.Gly63Glu)

SNV
Germline

Chr1:45333573

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA340136766

rs_763693540

6 SubmittersRCV000569625 RCV000640376 RCV002280129 RCV005056198

NM_001048174.2(MUTYH):c.264+1G>T

SNV
Germline

Chr1:45333412

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340136330

rs_1553130042

5 SubmittersRCV000571337 RCV001853781 RCV005000318

NM_001048174.2(MUTYH):c.224G>A (p.Trp75Ter)

SNV
Germline

Chr1:45333453

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340136412

rs_1553130185

4 SubmittersRCV000571879 RCV000657695 RCV000697243

NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter)

SNV
Germline

Chr1:45340219

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340137829

rs_767402084

3 SubmittersRCV000569145 RCV001853721

NM_001128425.2(MUTYH):c.36+1G>A

SNV
Germline

Chr1:45340218

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340137825

rs_1553136984

4 SubmittersRCV000569246 RCV000761658 RCV001853782

NM_000038.6(APC):c.135+1G>T

SNV
Germline

Chr5:112755026

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360617454

rs_750508765

4 SubmittersRCV000570470 RCV000758720 RCV004562440

NM_000038.6(APC):c.136-1G>A

SNV
Germline

Chr5:112766325

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360617462

rs_1554069481

4 SubmittersRCV000574643 RCV004561634

NM_000038.6(APC):c.304T>C (p.Ser102Pro)

SNV
Germline

Chr5:112767272

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA034347

rs_753302494

7 SubmittersRCV000561562 RCV002530295 RCV003478245 RCV004806468

NM_000038.6(APC):c.365G>T (p.Gly122Val)

SNV
Germline

Chr5:112767333

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA036174

rs_755660899

5 SubmittersRCV000575451 RCV001815415 RCV003767137

NM_000038.6(APC):c.1312+3A>C

SNV
Germline

Chr5:112819347

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA658655920

rs_863225311

2 SubmittersRCV000568374 RCV005415578

NM_000038.6(APC):c.15A>G (p.Ser5=)

SNV
Germline

Chr5:112754905

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445752302

rs_1554067106

7 SubmittersRCV000561552 RCV002225669 RCV004000964 RCV004561659

NM_000038.6(APC):c.1409-3T>G

SNV
Germline

Chr5:112827105

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA658655932

rs_1554081629

4 SubmittersRCV000566457 RCV004562477

NM_000038.6(APC):c.220G>A (p.Glu74Lys)

SNV
Germline

Chr5:112766410

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16021822

rs_876658941

2 SubmittersRCV000568191 RCV003767144

NM_000038.6(APC):c.423-3T>C

SNV
Germline

Chr5:112775626

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA658657474

rs_587782293

3 SubmittersRCV000568909 RCV004024510

NM_000038.6(APC):c.1979A>G (p.Asn660Ser)

SNV
Germline

Chr5:112837573

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16025642

rs_1174866478

5 SubmittersRCV000563785 RCV002526856 RCV004000972

NM_000038.6(APC):c.1909G>A (p.Gly637Arg)

SNV
Germline

Chr5:112835116

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16025491

rs_1554083227

2 SubmittersRCV000569755 RCV004562500

NM_000038.6(APC):c.2139A>G (p.Ser713=)

SNV
Germline

Chr5:112837733

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA445963455

rs_1554083964

4 SubmittersRCV000568063 RCV004024506 RCV003478272

NM_000038.6(APC):c.2945C>T (p.Ser982Leu)

SNV
Germline

Chr5:112838539

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA034039

rs_139773221

7 SubmittersRCV000561942 RCV001284349 RCV004561653 RCV004000959

NM_000038.6(APC):c.3047A>T (p.Asp1016Val)

SNV
Germline

Chr5:112838641

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16028005

rs_1554084658

4 SubmittersRCV000570784 RCV004562432 RCV004806464

NM_000038.6(APC):c.1966C>G (p.Leu656Val)

SNV
Germline

Chr5:112837560

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis
not specified

Criteria Provided
Conflicting Classifications

CA030483

rs_577466163

11 SubmittersRCV000568349 RCV000646329 RCV003478241 RCV004000943 RCV005240218

NM_000038.6(APC):c.2630G>C (p.Gly877Ala)

SNV
Germline

Chr5:112838224

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA032861

rs_558732083

4 SubmittersRCV000566008 RCV004562450

NM_000038.6(APC):c.2656C>T (p.Gln886Ter)

SNV
Germline

Chr5:112838250

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16027131

rs_755806668

2 SubmittersRCV000565148 RCV004568225

NM_000038.6(APC):c.3476C>G (p.Pro1159Arg)

SNV
Germline

Chr5:112839070

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16028963

rs_1554085046

2 SubmittersRCV000561063 RCV004561678

NM_000038.6(APC):c.3377G>T (p.Ser1126Ile)

SNV
Germline

Chr5:112838971

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA035157

rs_767339739

5 SubmittersRCV000572476 RCV002528086 RCV004806467

NM_000038.6(APC):c.4067C>G (p.Ser1356Ter)

SNV
Germline

Chr5:112839661

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16030245

rs_1554085480

3 SubmittersRCV000575615 RCV001775902 RCV003335524

NM_000038.6(APC):c.4088A>G (p.Lys1363Arg)

SNV
Germline

Chr5:112839682

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16030284

rs_373607243

9 SubmittersRCV000562963 RCV001194173 RCV000985302 RCV003476335 RCV004000955

NM_000038.6(APC):c.4901C>T (p.Pro1634Leu)

SNV
Germline

Chr5:112840495

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
APC-related disorder
Classic or attenuated familial adenomatous polyposis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA040139

rs_370433763

10 SubmittersRCV000565169 RCV001805192 RCV002530260 RCV003409840 RCV004000951 RCV004719879

NM_000038.6(APC):c.4591A>C (p.Asn1531His)

SNV
Germline

Chr5:112840185

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gastrointestinal stromal tumor of small intestine
Ovarian cancer
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16031385

rs_771096141

5 SubmittersRCV000574767 RCV000677757 RCV003153739 RCV004561670

NM_000038.6(APC):c.5677A>G (p.Lys1893Glu)

SNV
Germline

Chr5:112841271

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA042579

rs_765729481

4 SubmittersRCV000567946 RCV002528027 RCV004000946

NM_000038.6(APC):c.4770A>G (p.Lys1590=)

SNV
Germline

Chr5:112840364

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Condition: not provided
APC-related disorder

Criteria Provided
Conflicting Classifications

CA125167788

rs_973476980

7 SubmittersRCV000573887 RCV003117342 RCV003767234 RCV004592779 RCV004722944

NM_000038.6(APC):c.5267C>T (p.Ser1756Phe)

SNV
Germline

Chr5:112840861

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA041147

rs_773178712

7 SubmittersRCV000569928 RCV000677790 RCV001555805 RCV003465214

NM_000038.6(APC):c.645+1G>T

SNV
Germline

Chr5:112780904

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA360617499

rs_863225370

5 SubmittersRCV000574350 RCV002528043 RCV005034136

NM_000038.6(APC):c.798G>A (p.Val266=)

SNV
Germline

Chr5:112801347

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA049580

rs_778689157

6 SubmittersRCV000572839 RCV004000947 RCV003478242 RCV004561640

NM_000038.6(APC):c.5572C>T (p.Arg1858Ter)

SNV
Germline/somatic

Chr5:112841166

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
APC-related disorder
Familial adenomatous polyposis 1
Gastric cancer
Neoplasm
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Multiple Submitters
No Conflicts

CA16033525

rs_1270783041

10 SubmittersRCV000573057 RCV000657738 RCV003403363 RCV004562494 RCV003159968 RCV004669046 RCV004001187

NM_000038.6(APC):c.6736G>A (p.Val2246Ile)

SNV
Germline

Chr5:112842330

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
Desmoid disease, hereditary
Carcinoma of colon
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16036051

rs_1055180096

9 SubmittersRCV000569003 RCV000646326 RCV000765789 RCV001775901 RCV004001183

NM_000038.6(APC):c.6106G>A (p.Asp2036Asn)

SNV
Germline

Chr5:112841700

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16034696

rs_1312511221

4 SubmittersRCV000563143 RCV004001101 RCV004562463

NM_000038.6(APC):c.5611G>T (p.Asp1871Tyr)

SNV
Germline

Chr5:112841205

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA042401

rs_538571038

5 SubmittersRCV000576021 RCV002526859 RCV004000979

NM_000038.6(APC):c.5737A>G (p.Ile1913Val)

SNV
Germline

Chr5:112841331

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16033891

rs_1554086935

4 SubmittersRCV000573368 RCV001574249 RCV004569185

NM_000038.6(APC):c.6245A>G (p.Asp2082Gly)

SNV
Germline

Chr5:112841839

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA044164

rs_554370603

8 SubmittersRCV000565808 RCV000679077 RCV003476334 RCV004000942

NM_000038.6(APC):c.1872C>T (p.Ser624=)

SNV
Germline

Chr5:112835079

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA029775

rs_748550745

4 SubmittersRCV000572440 RCV004562492 RCV005000327

NM_000038.6(APC):c.1957A>C (p.Arg653=)

SNV
Germline

Chr5:112835164

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA445758951

rs_1114167580

2 SubmittersRCV000564051 RCV004561663

NM_000038.6(APC):c.8228A>G (p.Asn2743Ser)

SNV
Germline

Chr5:112843822

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA050243

rs_746961162

2 SubmittersRCV000573977 RCV003767148

NM_000038.6(APC):c.6851C>T (p.Pro2284Leu)

SNV
Germline

Chr5:112842445

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16036289

rs_200468360

4 SubmittersRCV000569441 RCV004562459

NM_000038.6(APC):c.7054A>G (p.Ser2352Gly)

SNV
Germline

Chr5:112842648

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16036702

rs_764311778

7 SubmittersRCV000564094 RCV004561683 RCV004000975 RCV004773007

NM_000038.6(APC):c.7148G>T (p.Gly2383Val)

SNV
Germline

Chr5:112842742

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA047090

rs_754320004

4 SubmittersRCV000568737 RCV003459338

NM_000038.6(APC):c.2533C>T (p.Arg845Cys)

SNV
Germline

Chr5:112838127

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA16026883

rs_1554084249

5 SubmittersRCV000574291 RCV002530325 RCV003153743

NM_000038.6(APC):c.2738A>G (p.His913Arg)

SNV
Germline

Chr5:112838332

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA033216

rs_762572576

6 SubmittersRCV000570077 RCV001584390 RCV004806483 RCV002528960

NM_000038.6(APC):c.7512G>A (p.Trp2504Ter)

SNV
Germline

Chr5:112843106

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16037663

rs_1554088413

3 SubmittersRCV000571946 RCV005231095 RCV005056211

NM_000038.6(APC):c.7375T>C (p.Ser2459Pro)

SNV
Germline

Chr5:112842969

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16037398

rs_1554088287

4 SubmittersRCV000574594 RCV004000950 RCV003900259 RCV004561644

NM_000038.6(APC):c.3478A>G (p.Thr1160Ala)

SNV
Germline

Chr5:112839072

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA035507

rs_750054763

4 SubmittersRCV000572880 RCV004001004 RCV004562453

NM_000038.6(APC):c.5651C>G (p.Ala1884Gly)

SNV
Germline

Chr5:112841245

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16033703

rs_1554086850

2 SubmittersRCV000574869 RCV005601002

NM_000038.6(APC):c.7271C>G (p.Ser2424Ter)

SNV
Germline

Chr5:112842865

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16037165

rs_1554088206

3 SubmittersRCV000570138 RCV003335503

NM_000038.6(APC):c.7541C>G (p.Thr2514Ser)

SNV
Germline

Chr5:112843135

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
6 conditions

Criteria Provided
Conflicting Classifications

CA048379

rs_747833393

9 SubmittersRCV000564293 RCV000985320 RCV002526839 RCV004000939 RCV005044845

NM_000038.6(APC):c.8395T>C (p.Ser2799Pro)

SNV
Germline

Chr5:112843989

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16039553

rs_906191341

5 SubmittersRCV000561033 RCV004562465 RCV004586805 RCV004806482

NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter)

SNV
Germline

Chr1:45333321

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA340136310

rs_1553129892

5 SubmittersRCV000576676 RCV000777015

NM_000038.6(APC):c.719C>G (p.Thr240Arg)

SNV
Germline

Chr5:112792519

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA047191

rs_751648064

6 SubmittersRCV000580661 RCV004001232 RCV004562537

NM_000038.6(APC):c.4670T>A (p.Ile1557Asn)

SNV
Germline

Chr5:112840264

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Colorectal cancer
Gastric adenocarcinoma and proximal polyposis of the stomach
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16031568

rs_769121879

4 SubmittersRCV000579761 RCV004001227 RCV004730984

NM_000038.6(APC):c.3383C>G (p.Ser1128Cys)

SNV
Germline

Chr5:112838977

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA035180

rs_755586334

7 SubmittersRCV000579783 RCV003767262 RCV004701673 RCV004806497

NM_000038.6(APC):c.287A>G (p.Tyr96Cys)

SNV
Germline

Chr5:112767255

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA033841

rs_760770847

3 SubmittersRCV000580580 RCV002526942

NM_000038.6(APC):c.7378G>C (p.Ala2460Pro)

SNV
Germline

Chr5:112842972

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA047824

rs_771929461

6 SubmittersRCV000579671 RCV004001233 RCV003767267 RCV003156263

NM_000038.6(APC):c.6236A>C (p.Asp2079Ala)

SNV
Germline

Chr5:112841830

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA044147

rs_779413228

5 SubmittersRCV000579432 RCV001800796 RCV004562531

NM_001048174.2(MUTYH):c.1102+1G>T

SNV
Germline

Chr1:45331660

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340133234

rs_587781337

3 SubmittersRCV000582433 RCV001227829

NM_001048174.2(MUTYH):c.705-7C>T

SNV
Germline

Chr1:45332317

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA658683150

rs_1553127879

2 SubmittersRCV000583595 RCV002065099

NM_001048174.2(MUTYH):c.914-8G>A

SNV
Germline

Chr1:45331857

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA060066

rs_757672024

5 SubmittersRCV000581996 RCV000667541 RCV000780498 RCV001764709

NM_001048174.2(MUTYH):c.1173C>A (p.Ala391=)

SNV
Germline

Chr1:45331486

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Conflicting Classifications

CA417879847

rs_1553125813

4 SubmittersRCV000584206 RCV000939531 RCV005392135

NM_001048174.2(MUTYH):c.305-4C>G

SNV
Germline

Chr1:45333174

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA057688

rs_767717597

4 SubmittersRCV000582649 RCV001100866

NM_001048174.2(MUTYH):c.570C>T (p.Tyr190=)

SNV
Germline

Chr1:45332610

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA058512

rs_778899897

5 SubmittersRCV000581975 RCV000759165 RCV002529267

NM_001048174.2(MUTYH):c.914-19C>T

SNV
Germline

Chr1:45331868

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
MUTYH-related disorder

Criteria Provided
Conflicting Classifications

CA059972

rs_758579958

4 SubmittersRCV000584531 RCV002065100 RCV004543292

NM_000038.6(APC):c.220+4G>A

SNV
Germline

Chr5:112766414

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA124975086

rs_973491846

7 SubmittersRCV000582451 RCV002530761 RCV004001284

NM_000038.6(APC):c.655G>A (p.Ala219Thr)

SNV
Germline

Chr5:112792455

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16022765

rs_1554074731

3 SubmittersRCV000582255 RCV004568281

NM_000038.6(APC):c.135+2T>C

SNV
Germline

Chr5:112755027

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360617456

rs_1554067164

5 SubmittersRCV000582751 RCV000583549 RCV004562547

NM_000038.6(APC):c.154C>T (p.Gln52Ter)

SNV
Germline

Chr5:112766344

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16021682

rs_786202584

4 SubmittersRCV000583640 RCV004562554

NM_000038.6(APC):c.135+8G>C

SNV
Germline

Chr5:112755033

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA658683397

rs_1554067166

3 SubmittersRCV000581428 RCV004562548

NM_000038.6(APC):c.347G>A (p.Gly116Asp)

SNV
Germline

Chr5:112767315

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
not specified

Criteria Provided
Conflicting Classifications

CA16022080

rs_369999291

6 SubmittersRCV000581664 RCV004568276 RCV004001291 RCV005231120

NM_000038.6(APC):c.4634C>A (p.Ser1545Ter)

SNV
Germline

Chr5:112840228

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16031485

rs_863225356

2 SubmittersRCV000581695 RCV003337322

NM_000038.6(APC):c.1626+4C>A

SNV
Germline

Chr5:112828010

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA658683412

rs_1202435147

7 SubmittersRCV000590026 RCV000583572 RCV003767281

NM_000038.6(APC):c.2223T>C (p.Asn741=)

SNV
Germline

Chr5:112837817

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445963255

rs_1554084025

5 SubmittersRCV000582279 RCV001155354 RCV004562569

NM_000038.6(APC):c.4487C>G (p.Thr1496Ser)

SNV
Germline

Chr5:112840081

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian cancer
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA039198

rs_2229996

4 SubmittersRCV000581992 RCV003153754 RCV004568277

NM_000038.6(APC):c.1409-2A>T

SNV
Germline

Chr5:112827106

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360619889

rs_1064794163

3 SubmittersRCV000582622 RCV001356338 RCV004562550

NM_000038.6(APC):c.1580G>C (p.Arg527Thr)

SNV
Germline

Chr5:112827960

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary cancer
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16024760

rs_1554081889

6 SubmittersRCV000582026 RCV002298697 RCV003492109 RCV004562556

NM_000038.6(APC):c.4764A>T (p.Ser1588=)

SNV
Germline

Chr5:112840358

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA446206721

rs_1554086165

6 SubmittersRCV000584716 RCV004024621 RCV005000343

NM_000038.6(APC):c.1744-3T>C

SNV
Germline

Chr5:112834948

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA029421

rs_760166803

6 SubmittersRCV000583077 RCV000826981 RCV004562560 RCV004802263

NM_000038.6(APC):c.3203C>G (p.Ser1068Ter)

SNV
Germline

Chr5:112838797

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16028361

rs_1554084848

2 SubmittersRCV000583699 RCV004562576

NM_000038.6(APC):c.3251A>T (p.Asp1084Val)

SNV
Germline

Chr5:112838845

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA034805

rs_201904856

4 SubmittersRCV000581391 RCV001284353 RCV003767284

NM_000038.6(APC):c.3404A>G (p.Tyr1135Cys)

SNV
Germline

Chr5:112838998

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Ovarian cancer
Classic or attenuated familial adenomatous polyposis
Familial multiple polyposis syndrome

Criteria Provided
Conflicting Classifications

CA035239

rs_754916822

7 SubmittersRCV000581738 RCV003767285 RCV005357730 RCV003153753 RCV004001289 RCV005240229

NM_000038.6(APC):c.3675C>G (p.Ala1225=)

SNV
Germline

Chr5:112839269

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA036240

rs_759214956

6 SubmittersRCV000583641 RCV004562578 RCV004001294 RCV004719893

NM_000038.6(APC):c.5244C>T (p.Asp1748=)

SNV
Germline

Chr5:112840838

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA041032

rs_748776990

7 SubmittersRCV000581472 RCV001707746 RCV004001299 RCV004562586

NM_000038.6(APC):c.5658A>G (p.Glu1886=)

SNV
Germline

Chr5:112841252

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA446208994

rs_1417046511

3 SubmittersRCV000581204 RCV001152938 RCV004001303

NM_000038.6(APC):c.*10A>G

SNV
Germline

Chr5:112844136

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA658683428

rs_1554089226

2 SubmittersRCV000583787 RCV004791602

NM_001048174.2(MUTYH):c.930G>T (p.Gln310His)

SNV
Germline

Chr1:45331833

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340133885

rs_3219489

3 SubmittersRCV000584255 RCV000640420 RCV000777602

NM_000038.6(APC):c.734C>A (p.Ser245Ter)

SNV
Germline

Chr5:112801283

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16022936

rs_1554076133

4 SubmittersRCV000584600 RCV001026311 RCV004562621

NM_000038.6(APC):c.1626+1G>A

SNV
Germline

Chr5:112828007

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360620035

rs_1554081934

5 SubmittersRCV000583632 RCV002404585 RCV004562622

NM_000038.6(APC):c.3577C>T (p.Gln1193Ter)

SNV
Germline

Chr5:112839171

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029191

rs_1554085128

6 SubmittersRCV000581241 RCV000774952 RCV002530817

NM_000038.6(APC):c.3827C>G (p.Ser1276Ter)

SNV
Germline

Chr5:112839421

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029730

rs_1060503299

4 SubmittersRCV000581700 RCV002358642 RCV004562628

NM_000038.6(APC):c.4616C>A (p.Ser1539Ter)

SNV
Germline

Chr5:112840210

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16031444

rs_1554086008

2 SubmittersRCV000584354 RCV005091519

NM_000038.6(APC):c.646-2A>G

SNV
Germline

Chr5:112792444

Pathogenic/Likely pathogenic

Familial multiple polyposis syndrome
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA360617504

rs_777848503

5 SubmittersRCV000588727 RCV002530879 RCV002367986

NM_000038.6(APC):c.1110G>A (p.Leu370=)

SNV
Germline

Chr5:112819142

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA445960280

rs_1439967202

4 SubmittersRCV000588803 RCV004024667 RCV004659119

NM_000038.6(APC):c.531+9C>G

SNV
Germline

Chr5:112775746

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified

Criteria Provided
Conflicting Classifications

CA658683401

rs_1554071622

3 SubmittersRCV000776342 RCV002530877 RCV005240242

NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys)

SNV
Germline

Chr16:2046208

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 3
NTHL1-related disorder
NTHL1-deficiency tumor predisposition syndrome

Criteria Provided
Conflicting Classifications

CA7828332

rs_148104494

17 SubmittersRCV000592496 RCV001017807 RCV001800825 RCV000765258 RCV003945401 RCV005357784

NM_000038.6(APC):c.2250A>T (p.Pro750=)

SNV
Germline

Chr5:112837844

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
not specified

Criteria Provided
Conflicting Classifications

CA031515

rs_376526724

8 SubmittersRCV000733593 RCV001014934 RCV004002601 RCV004563345 RCV005240326

NM_001048174.2(MUTYH):c.1393-4C>G

SNV
Germline

Chr1:45330561

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658795449

rs_1553124158

3 SubmittersRCV000640368 RCV000774896

NM_001048174.2(MUTYH):c.881G>A (p.Ser294Asn)

SNV
Germline

Chr1:45332055

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340134122

rs_587781810

2 SubmittersRCV000640378 RCV002369679

NM_001048174.2(MUTYH):c.706G>A (p.Gly236Ser)

SNV
Germline

Chr1:45332309

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340134728

rs_1328890188

2 SubmittersRCV000640386 RCV004025602

NM_001048174.2(MUTYH):c.67C>G (p.Gln23Glu)

SNV
Germline

Chr1:45334439

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340137106

rs_1270853129

3 SubmittersRCV000640355 RCV002458050

NM_001048174.2(MUTYH):c.1435-2A>G

SNV
Germline

Chr1:45329439

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340131986

rs_1553123105

3 SubmittersRCV000640391 RCV005443125

NM_001127511.3(APC):c.-126G>C

SNV
Germline

Chr5:112707592

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA124925002

rs_948080320

3 SubmittersRCV001561386 RCV003584692 RCV004563478

NM_001127511.3(APC):c.-125A>T

SNV
Germline

Chr5:112707593

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA124925009

rs_1045063324

3 SubmittersRCV005401551 RCV003233791 RCV004563542

NM_000038.6(APC):c.3786T>G (p.Tyr1262Ter)

SNV
Germline

Chr5:112839380

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029636

rs_147411334

4 SubmittersRCV001021134 RCV001811417 RCV002533274

NM_000038.6(APC):c.2842T>C (p.Ser948Pro)

SNV
Germline

Chr5:112838436

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16027530

rs_1554084533

2 SubmittersRCV004563373 RCV004944053

NM_000038.6(APC):c.3523C>T (p.Gln1175Ter)

SNV
Germline

Chr5:112839117

Pathogenic

Familial adenomatous polyposis 1
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16029073

rs_1554085081

6 SubmittersRCV000646339 RCV001001452 RCV002458098

NM_000038.6(APC):c.4552A>G (p.Lys1518Glu)

SNV
Germline

Chr5:112840146

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16031294

rs_1554085958

5 SubmittersRCV001190908 RCV004004071 RCV003320718 RCV004568433

NC_000005.10:g.112707468T>G

SNV
Germline

Chr5:112707468

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA561890103

rs_538243333

2 SubmittersRCV002465744 RCV004563530

NM_000038.6(APC):c.5854C>G (p.Gln1952Glu)

SNV
Germline

Chr5:112841448

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16034137

rs_1166934042

3 SubmittersRCV001024603 RCV004807069 RCV004563418

NM_001127511.3(APC):c.123G>A (p.Pro41=)

SNV
Germline

Chr5:112707840

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA650199593

rs_1189155420

2 SubmittersRCV005231222 RCV004563535

NM_001127511.3(APC):c.165+3G>T

SNV
Germline

Chr5:112707885

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
not specified

Criteria Provided
Conflicting Classifications

CA124925282

rs_765384591

2 SubmittersRCV004563516 RCV004596313

NM_001127511.3(APC):c.-123C>T

SNV
Germline

Chr5:112707595

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA124925015

rs_185346146

2 SubmittersRCV003320719 RCV004563546

NM_001127511.3(APC):c.-39T>A

SNV
Germline

Chr5:112707679

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
not specified

Criteria Provided
Conflicting Classifications

CA561890264

rs_1466692709

2 SubmittersRCV004563548 RCV005231223

NM_000038.6(APC):c.532-2A>G

SNV
Germline

Chr5:112780788

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA360617494

rs_752152148

1 SubmittersRCV004563470

NM_000038.6(APC):c.1571G>A (p.Gly524Asp)

SNV
Germline

Chr5:112827951

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA028449

rs_587782868

5 SubmittersRCV001012236 RCV002268233 RCV002530050

NM_000038.6(APC):c.1369T>G (p.Ser457Ala)

SNV
Germline

Chr5:112821952

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16024302

rs_1554080710

3 SubmittersRCV003767863 RCV002386081

NM_000038.6(APC):c.1903G>T (p.Gly635Ter)

SNV
Germline

Chr5:112835110

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16025482

rs_1554083205

3 SubmittersRCV004649242 RCV002533282

NM_000038.6(APC):c.1626+2T>C

SNV
Germline

Chr5:112828008

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360620041

rs_876658858

2 SubmittersRCV004563440

NM_000038.6(APC):c.2021T>A (p.Leu674Ter)

SNV
Germline

Chr5:112837615

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16025737

rs_1554083898

1 SubmittersRCV004563402

NM_000038.6(APC):c.2094A>G (p.Leu698=)

SNV
Germline

Chr5:112837688

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
APC-related disorder
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA445963409

rs_1426881729

8 SubmittersRCV000759419 RCV001014408 RCV003945635 RCV004025709 RCV004004088

NM_000038.6(APC):c.2733A>T (p.Glu911Asp)

SNV
Germline

Chr5:112838327

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian cancer
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA033174

rs_770018276

5 SubmittersRCV001182318 RCV003153786 RCV003767865 RCV004807070

NM_000038.6(APC):c.5059C>T (p.Arg1687Ter)

SNV
Germline

Chr5:112840653

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16032398

rs_1554086415

1 SubmittersRCV004563399

NM_000038.6(APC):c.7438C>T (p.Gln2480Ter)

SNV
Germline

Chr5:112843032

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16037518

rs_1554088359

2 SubmittersRCV001026436 RCV004563451

NM_000038.6(APC):c.8354A>T (p.Asn2785Ile)

SNV
Germline

Chr5:112843948

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16039458

rs_1408383396

2 SubmittersRCV002406419 RCV004563363

NM_000038.6(APC):c.2063C>A (p.Ser688Ter)

SNV
Germline

Chr5:112837657

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16025833

rs_1554083930

1 SubmittersRCV000656740

NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)

SNV
Germline

Chr5:112839461

Pathogenic

Condition: not provided
Carcinoma of colon
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
Desmoid disease, hereditary
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029816

rs_1554085355

5 SubmittersRCV000657604 RCV000763543 RCV002360677 RCV004563567

NM_000038.6(APC):c.5669C>G (p.Ser1890Ter)

SNV
Unknown

Chr5:112841263

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16033747

rs_1554086862

2 SubmittersRCV000662823

NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter)

SNV
Germline

Chr1:45332780

Pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA340135601

rs_1553128813

3 SubmittersRCV000669566 RCV002343420

NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter)

SNV
Germline

Chr1:45334463

Pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA058129

rs_768386527

5 SubmittersRCV000671051 RCV000773209 RCV005429269

NM_000038.6(APC):c.7172T>G (p.Ile2391Ser)

SNV
Germline

Chr5:112842766

Conflicting classifications of pathogenicity

Carcinoma of colon
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA047134

rs_747797803

6 SubmittersRCV000677767 RCV001026117 RCV004004211 RCV002531389

NM_000038.6(APC):c.2828C>A (p.Ser943Ter)

SNV
Germline

Chr5:112838422

Pathogenic

Familial multiple polyposis syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Single Submitter

CA16027500

rs_1554084512

2 SubmittersRCV000677773 RCV005357899

NM_001048174.2(MUTYH):c.-6-2A>G

SNV
Germline

Chr1:45334513

Likely pathogenic

Familial adenomatous polyposis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA340137354

rs_1383826978

6 SubmittersRCV000687716 RCV000679427 RCV001178888

NM_001127511.3(APC):c.-3C>A

SNV
Germline

Chr5:112707715

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA658822490

rs_771410311

2 SubmittersRCV000679420 RCV004563573

NM_001048174.2(MUTYH):c.887C>A (p.Ser296Ter)

SNV
Germline

Chr1:45332049

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340134104

rs_558173961

1 SubmittersRCV000690384

NM_001048174.2(MUTYH):c.248T>C (p.Leu83Pro)

SNV
Germline

Chr1:45333429

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA340136361

rs_1557485553

2 SubmittersRCV000699792 RCV001020006

NM_001048174.2(MUTYH):c.705G>A (p.Trp235Ter)

SNV
Germline

Chr1:45332310

Pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA340134730

rs_1338038953

2 SubmittersRCV000685563 RCV004026201

NM_001048174.2(MUTYH):c.607-1G>A

SNV
Germline

Chr1:45332489

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340135247

rs_1557474906

1 SubmittersRCV000705838

NM_001128425.2(MUTYH):c.178G>T (p.Glu60Ter)

SNV
Germline

Chr1:45333583

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340136796

rs_1557487793

2 SubmittersRCV000706795 RCV004026730

NM_000038.6(APC):c.275C>G (p.Ser92Cys)

SNV
Germline

Chr5:112767243

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian cancer
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA033319

rs_769708176

5 SubmittersRCV001016520 RCV003153800 RCV002544731

NM_000038.6(APC):c.1270C>T (p.Gln424Ter)

SNV
Germline

Chr5:112819302

Pathogenic

Condition: not provided
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16024087

rs_1561542165

5 SubmittersRCV000985283 RCV005418310 RCV004564369

NM_000038.6(APC):c.6539A>G (p.Lys2180Arg)

SNV
Germline

Chr5:112842133

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA045283

rs_762955111

5 SubmittersRCV001025384 RCV001284251 RCV003493711 RCV003768080

NM_000038.6(APC):c.6547T>A (p.Ser2183Thr)

SNV
Germline

Chr5:112842141

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
APC-related disorder
Classic or attenuated familial adenomatous polyposis
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA045306

rs_764180204

7 SubmittersRCV001186452 RCV003983169 RCV004807093 RCV003478420 RCV002532234

NM_000038.6(APC):c.7219G>A (p.Gly2407Ser)

SNV
Germline

Chr5:112842813

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16037054

rs_1561613753

5 SubmittersRCV001592882 RCV000774449 RCV003999579 RCV004564311

NM_000038.6(APC):c.7391C>G (p.Ser2464Cys)

SNV
Germline

Chr5:112842985

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Hereditary cancer
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16037430

rs_766473931

7 SubmittersRCV000776331 RCV003999536 RCV003492129 RCV003478409 RCV003768055

NM_000038.6(APC):c.7498C>T (p.Gln2500Ter)

SNV
Germline

Chr5:112843092

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16037637

rs_372535376

2 SubmittersRCV000693291

NM_000038.6(APC):c.531+6T>C

SNV
Germline

Chr5:112775743

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA891842591

rs_1561478536

3 SubmittersRCV002343511 RCV004564380

NM_000038.6(APC):c.2744T>C (p.Val915Ala)

SNV
Germline

Chr5:112838338

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA033270

rs_773849124

3 SubmittersRCV002532333 RCV003338737

NM_000038.6(APC):c.3605C>G (p.Ser1202Cys)

SNV
Germline

Chr5:112839199

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA035854

rs_753375023

3 SubmittersRCV001180267 RCV004564297

NM_000038.6(APC):c.4248C>T (p.Gly1416=)

SNV
Germline

Chr5:112839842

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445964247

rs_1561590899

4 SubmittersRCV001022127 RCV003478406 RCV004564277

NM_000038.6(APC):c.4351G>A (p.Glu1451Lys)

SNV
Germline

Chr5:112839945

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16030859

rs_1325458165

5 SubmittersRCV001595034 RCV000772912 RCV004564378 RCV003999688

NM_000038.6(APC):c.6871C>T (p.Gln2291Ter)

SNV
Germline

Chr5:112842465

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16036328

rs_1561610839

1 SubmittersRCV000685679

NM_000038.6(APC):c.266C>A (p.Ser89Ter)

SNV
Germline

Chr5:112767234

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16021920

rs_876658846

3 SubmittersRCV001016260 RCV004564266

NM_000038.6(APC):c.1111G>T (p.Gly371Ter)

SNV
Germline

Chr5:112819143

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16023747

rs_863224535

1 SubmittersRCV004564309

NM_000038.6(APC):c.2299C>T (p.Gln767Ter)

SNV
Germline

Chr5:112837893

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Multiple Submitters
No Conflicts

CA16026370

rs_1561575998

5 SubmittersRCV002294368 RCV002424593 RCV005357912

NM_000038.6(APC):c.2336T>G (p.Leu779Ter)

SNV
Germline

Chr5:112837930

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16026459

rs_1561576302

1 SubmittersRCV004564393

NM_000038.6(APC):c.2674G>T (p.Glu892Ter)

SNV
Germline

Chr5:112838268

Pathogenic

Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16027170

rs_1561578889

2 SubmittersRCV004564389 RCV004702345

NM_000038.6(APC):c.3203C>A (p.Ser1068Ter)

SNV
Germline

Chr5:112838797

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16028360

rs_1554084848

3 SubmittersRCV001019204 RCV004564417

NM_000038.6(APC):c.3661C>T (p.Pro1221Ser)

SNV
Germline

Chr5:112839255

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
6 conditions
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA036201

rs_760999992

6 SubmittersRCV001182319 RCV002507195 RCV002547136 RCV004004293

NM_000038.6(APC):c.3745T>A (p.Cys1249Ser)

SNV
Germline

Chr5:112839339

Conflicting classifications of pathogenicity

Classic or attenuated familial adenomatous polyposis
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16029547

rs_1417740204

3 SubmittersRCV004807094 RCV002343474 RCV004564321

NM_000038.6(APC):c.3871C>T (p.Gln1291Ter)

SNV
Germline/somatic

Chr5:112839465

Pathogenic

Familial adenomatous polyposis 1
Neoplasm
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16029827

rs_1561588104

3 SubmittersRCV004564367 RCV005231285 RCV004997188

NM_000038.6(APC):c.4450G>C (p.Asp1484His)

SNV
Germline

Chr5:112840044

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16031070

rs_1165759330

4 SubmittersRCV002332503 RCV003320735 RCV004564438 RCV004807108

NM_000038.6(APC):c.6493C>A (p.Pro2165Thr)

SNV
Germline

Chr5:112842087

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
not specified

Criteria Provided
Conflicting Classifications

CA045025

rs_775501375

5 SubmittersRCV001025330 RCV001284249 RCV003768081 RCV003493712

NM_000038.6(APC):c.730-5A>G

SNV
Germline

Chr5:112801274

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA645546040

rs_1561514828

5 SubmittersRCV001026248 RCV004564329

NM_000038.6(APC):c.1192A>C (p.Lys398Gln)

SNV
Germline

Chr5:112819224

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
6 conditions
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA026858

rs_765196085

10 SubmittersRCV000758718 RCV000776477 RCV002544770 RCV004526753 RCV005034292 RCV004004262

NM_000038.6(APC):c.1313-2A>G

SNV
Germline

Chr5:112821894

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA360619526

rs_1561545780

2 SubmittersRCV002386245 RCV004564398

NM_000038.6(APC):c.2228T>C (p.Met743Thr)

SNV
Germline

Chr5:112837822

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16026215

rs_878853425

5 SubmittersRCV000777336 RCV000985290 RCV005438024 RCV004564410

NM_000038.6(APC):c.3549T>G (p.Tyr1183Ter)

SNV
Germline

Chr5:112839143

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16029132

rs_1561585641

1 SubmittersRCV004564256

NM_000038.6(APC):c.6963A>G (p.Ile2321Met)

SNV
Germline

Chr5:112842557

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16036517

rs_1561611578

4 SubmittersRCV003303145 RCV004564335 RCV004807097

NM_000038.6(APC):c.7942G>A (p.Ala2648Thr)

SNV
Germline

Chr5:112843536

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16038579

rs_1195417407

5 SubmittersRCV000707345 RCV002255516 RCV004773121

NM_000038.6(APC):c.1594C>T (p.Gln532Ter)

SNV
Germline

Chr5:112827974

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16024786

rs_1554081901

2 SubmittersRCV000708598 RCV004564462

NM_000038.6(APC):c.1886T>A (p.Leu629Ter)

SNV
Germline

Chr5:112835093

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16025441

rs_1019221239

3 SubmittersRCV000708956

NM_000038.6(APC):c.6287C>G (p.Ser2096Ter)

SNV
Unknown

Chr5:112841881

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16035096

rs_1561606344

1 SubmittersRCV000708973

NM_001048174.2(MUTYH):c.655C>G (p.Arg219Gly)

SNV
Germline

Chr1:45332440

Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA340134841

rs_587782885

3 SubmittersRCV000767386 RCV002386286

NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr)

SNV
Germline

Chr16:2044652

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 3
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Inherited polyposis and early onset colorectal cancer - germline testing
NTHL1-related disorder

Criteria Provided
Conflicting Classifications

CA7828239

rs_1805378

15 SubmittersRCV000767388 RCV000896408 RCV001816746 RCV001023853 RCV005430822 RCV003953261

NM_001048174.2(MUTYH):c.633A>G (p.Val211=)

SNV
Germline

Chr1:45332462

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA417880266

rs_1557474374

5 SubmittersRCV000733152 RCV001026120 RCV003320736 RCV001472704

NM_000038.6(APC):c.2589C>A (p.Tyr863Ter)

SNV
Germline

Chr5:112838183

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16027001

rs_1561578229

2 SubmittersRCV000756997 RCV003768273

NM_000038.6(APC):c.2651C>T (p.Ala884Val)

SNV
Germline

Chr5:112838245

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16027123

rs_750217875

2 SubmittersRCV000755822 RCV002291695

NM_000038.6(APC):c.1479C>T (p.Tyr493=)

SNV
Germline

Chr5:112827178

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445755969

rs_1561553939

5 SubmittersRCV000758721 RCV002388379 RCV003768277

NM_000038.6(APC):c.1613A>T (p.Glu538Val)

SNV
Germline

Chr5:112827993

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16024829

rs_1561555761

5 SubmittersRCV000759414 RCV001012424 RCV003892687 RCV004564466

NM_000038.6(APC):c.2109A>C (p.Ala703=)

SNV
Germline

Chr5:112837703

Conflicting classifications of pathogenicity

Condition: not provided
Classic or attenuated familial adenomatous polyposis
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445963422

rs_1561574950

4 SubmittersRCV000759421 RCV003999898 RCV004027169 RCV004564468

NM_000038.6(APC):c.2114G>A (p.Ser705Asn)

SNV
Germline

Chr5:112837708

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
6 conditions
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA030810

rs_752874220

5 SubmittersRCV000759422 RCV001188847 RCV002485968 RCV002533825

NM_000038.6(APC):c.4109A>G (p.Lys1370Arg)

SNV
Germline

Chr5:112839703

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16030330

rs_1365778107

5 SubmittersRCV001021884 RCV000759429 RCV003999900 RCV004564469

NM_000038.6(APC):c.5570C>A (p.Ser1857Ter)

SNV
Germline

Chr5:112841164

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16033521

rs_1561601114

2 SubmittersRCV000758735 RCV005092185

NM_001048174.2(MUTYH):c.116-52T>G

SNV
Germline

Chr1:45333613

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA913189317

rs_1557488140

3 SubmittersRCV000759881 RCV001484772

NM_001048174.2(MUTYH):c.1417C>T (p.Gln473Ter)

SNV
Germline

Chr1:45330533

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Conflicting Classifications

CA21835283

rs_932830392

7 SubmittersRCV000760568 RCV000777365 RCV002249461 RCV001378375 RCV003166017

NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)

SNV
Germline

Chr16:2040004

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3
NTHL1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7828083

rs_146347092

12 SubmittersRCV000760534 RCV001018044 RCV001535451 RCV004751695

NM_000038.6(APC):c.1341T>A (p.Cys447Ter)

SNV
Germline

Chr5:112821924

Pathogenic/Likely pathogenic

Familial multiple polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16024242

rs_1561545947

3 SubmittersRCV000761223 RCV002386324 RCV004564473

NM_001048174.2(MUTYH):c.699G>T (p.Gln233His)

SNV
Germline

Chr1:45332396

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA340134756

rs_765339120

5 SubmittersRCV000777407 RCV001068681 RCV001766614

NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter)

SNV
Germline

Chr1:45333423

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
MUTYH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA21839639

rs_888691362

6 SubmittersRCV000776071 RCV001206801 RCV001354223 RCV004723164

NM_000038.6(APC):c.273G>A (p.Met91Ile)

SNV
Germline

Chr5:112767241

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA033250

rs_745394881

5 SubmittersRCV000775117 RCV002534172 RCV004997286

NM_000038.6(APC):c.652A>G (p.Ile218Val)

SNV
Germline

Chr5:112792452

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA045236

rs_781561221

4 SubmittersRCV000775121 RCV002272348 RCV004569460

NM_000038.6(APC):c.1638T>C (p.Ser546=)

SNV
Germline

Chr5:112828867

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445757374

rs_1409874487

4 SubmittersRCV000777439 RCV000985286 RCV004561788

NM_000038.6(APC):c.2203G>C (p.Ala735Pro)

SNV
Germline

Chr5:112837797

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA031092

rs_559313229

4 SubmittersRCV000775134 RCV004561759

NM_000038.6(APC):c.3377G>A (p.Ser1126Asn)

SNV
Germline

Chr5:112838971

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16028732

rs_767339739

3 SubmittersRCV000776910 RCV004569472

NM_000038.6(APC):c.3868A>G (p.Asn1290Asp)

SNV
Germline

Chr5:112839462

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA036833

rs_752977559

3 SubmittersRCV000775142 RCV004561762

NM_000038.6(APC):c.6487A>C (p.Lys2163Gln)

SNV
Germline

Chr5:112842081

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
APC-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA044993

rs_759728732

8 SubmittersRCV000775341 RCV000779713 RCV002535529 RCV003983202 RCV001284248

NM_000038.6(APC):c.7709C>G (p.Ser2570Ter)

SNV
Germline

Chr5:112843303

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16038078

rs_1561617778

3 SubmittersRCV000772432 RCV004788167

NM_000038.6(APC):c.7750G>A (p.Ala2584Thr)

SNV
Germline

Chr5:112843344

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
not specified

Criteria Provided
Conflicting Classifications

CA049041

rs_763786323

7 SubmittersRCV000775350 RCV001566386 RCV004001446 RCV004561767 RCV004596343

NM_000038.6(APC):c.7869A>G (p.Thr2623=)

SNV
Germline

Chr5:112843463

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA446210925

rs_775126492

6 SubmittersRCV000776837 RCV001354138 RCV003478472 RCV004561779

NM_001048174.2(MUTYH):c.305-7C>T

SNV
Germline

Chr1:45333177

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified

Criteria Provided
Conflicting Classifications

CA522810471

rs_863224698

3 SubmittersRCV000771747 RCV001417998 RCV002265876

NM_001048174.2(MUTYH):c.1393-10T>A

SNV
Germline

Chr1:45330567

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA913187527

rs_1557452216

2 SubmittersRCV000773013 RCV003614058

NM_001048174.2(MUTYH):c.607-4C>T

SNV
Germline

Chr1:45332492

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA913187512

rs_1557474961

4 SubmittersRCV000776996 RCV001479624

NM_000038.6(APC):c.730-9T>A

SNV
Germline

Chr5:112801270

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA047741

rs_780218375

3 SubmittersRCV000775123 RCV001192913 RCV002536694

NM_001048174.2(MUTYH):c.1180C>T (p.Gln394Ter)

SNV
Germline

Chr1:45331479

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340132935

rs_1437789978

2 SubmittersRCV000810512

NM_001048174.2(MUTYH):c.704G>A (p.Trp235Ter)

SNV
Germline

Chr1:45332391

Pathogenic

Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Single Submitter

CA340134745

rs_1570406302

2 SubmittersRCV000794479 RCV003166117

NM_001048174.2(MUTYH):c.621G>A (p.Val207=)

SNV
Germline

Chr1:45332474

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA058803

rs_752360850

2 SubmittersRCV000804881 RCV005443162

NM_001048174.2(MUTYH):c.461G>C (p.Arg154Pro)

SNV
Germline

Chr1:45332794

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA340135670

rs_143353451

4 SubmittersRCV000807417 RCV001024139 RCV001811496

NM_001048174.2(MUTYH):c.367G>C (p.Gly123Arg)

SNV
Germline

Chr1:45333108

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340136087

rs_587782165

3 SubmittersRCV000792047 RCV004027402

NM_001048174.2(MUTYH):c.163T>C (p.Ser55Pro)

SNV
Germline

Chr1:45333514

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340136532

rs_1570444542

2 SubmittersRCV000814659 RCV001015643

NM_001048174.2(MUTYH):c.1A>G (p.Met1Val)

SNV
Germline

Chr1:45334505

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA340137316

rs_1570467133

2 SubmittersRCV000794526 RCV002332595

NM_000038.6(APC):c.421A>C (p.Arg141=)

SNV
Germline

Chr5:112767389

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445753448

rs_1561465195

3 SubmittersRCV001177511 RCV004561870

NM_000038.6(APC):c.664C>T (p.Gln222Ter)

SNV
Germline

Chr5:112792464

Pathogenic

Familial adenomatous polyposis 1
APC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16022787

rs_1580423584

3 SubmittersRCV004561800 RCV004723181

NM_000038.6(APC):c.712C>T (p.Gln238Ter)

SNV
Germline

Chr5:112792512

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16022890

rs_1580424314

3 SubmittersRCV003307444 RCV002537026

NM_000038.6(APC):c.1292T>G (p.Met431Arg)

SNV
Germline

Chr5:112819324

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16024135

rs_1034113927

2 SubmittersRCV004562708 RCV005372450

NM_000038.6(APC):c.1479C>A (p.Tyr493Ter)

SNV
Germline

Chr5:112827178

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16024545

rs_1561553939

1 SubmittersRCV004561811

NM_000038.6(APC):c.1600A>T (p.Lys534Ter)

SNV
Germline

Chr5:112827980

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16024799

rs_1580569295

4 SubmittersRCV001796258 RCV004562820

NM_000038.6(APC):c.1626G>C (p.Gln542His)

SNV
Germline

Chr5:112828006

Likely pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA16024860

rs_1580569744

3 SubmittersRCV002537180 RCV005453108

NM_000038.6(APC):c.2719G>C (p.Gly907Arg)

SNV
Germline

Chr5:112838313

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Desmoid disease, hereditary
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA033134

rs_771458366

5 SubmittersRCV001016394 RCV003141857 RCV004002836 RCV004562803

NM_000038.6(APC):c.3311C>G (p.Ser1104Ter)

SNV
Germline

Chr5:112838905

Pathogenic

Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16028601

rs_1580633796

2 SubmittersRCV004001649 RCV004561913

NM_000038.6(APC):c.4006A>T (p.Arg1336Ter)

SNV
Germline

Chr5:112839600

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16030117

rs_1580642648

3 SubmittersRCV002534748 RCV004944175

NM_000038.6(APC):c.4025T>G (p.Leu1342Ter)

SNV
Germline

Chr5:112839619

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16030155

rs_1580643026

1 SubmittersRCV004561882

NM_000038.6(APC):c.4670T>C (p.Ile1557Thr)

SNV
Germline

Chr5:112840264

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA039552

rs_769121879

4 SubmittersRCV001022878 RCV004001810 RCV004562779

NM_000038.6(APC):c.4732T>C (p.Cys1578Arg)

SNV
Germline

Chr5:112840326

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16031711

rs_138367627

3 SubmittersRCV002334470 RCV004569505 RCV005367556

NM_000038.6(APC):c.4742C>G (p.Ser1581Cys)

SNV
Germline

Chr5:112840336

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA039671

rs_377169217

4 SubmittersRCV001022978 RCV001548579 RCV004561856

NM_000038.6(APC):c.4747A>G (p.Met1583Val)

SNV
Germline

Chr5:112840341

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA039697

rs_753723223

2 SubmittersRCV002334472 RCV004569521

NM_000038.6(APC):c.5422A>G (p.Asn1808Asp)

SNV
Germline

Chr5:112841016

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA041906

rs_533762549

6 SubmittersRCV001181767 RCV004561928 RCV004723212 RCV004807186

NM_000038.6(APC):c.5893C>T (p.His1965Tyr)

SNV
Germline

Chr5:112841487

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16034227

rs_1385926024

4 SubmittersRCV001024648 RCV002478932 RCV004562821

NM_000038.6(APC):c.6395C>G (p.Ser2132Ter)

SNV
Germline

Chr5:112841989

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16035334

rs_1580670427

2 SubmittersRCV004562796 RCV004659232

NM_000038.6(APC):c.6862C>T (p.Gln2288Ter)

SNV
Germline

Chr5:112842456

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16036309

rs_1415318567

1 SubmittersRCV004561821

NM_000038.6(APC):c.7069A>T (p.Lys2357Ter)

SNV
Germline

Chr5:112842663

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16036733

rs_1554087972

1 SubmittersRCV000792397

NM_000038.6(APC):c.7379C>T (p.Ala2460Val)

SNV
Germline

Chr5:112842973

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA047837

rs_768590443

2 SubmittersRCV002381762 RCV004561930

NM_000038.6(APC):c.7678C>T (p.Arg2560Ter)

SNV
Germline

Chr5:112843272

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16038008

rs_1580685528

7 SubmittersRCV001026699 RCV005407983 RCV002537333 RCV004997362

NM_002439.5(MSH3):c.316C>G (p.Gln106Glu)

SNV
Germline

Chr5:80656489

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 4
Familial adenomatous polyposis 4
Endometrial carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA3327562

rs_149350323

9 SubmittersRCV001018944 RCV000822585 RCV003153868 RCV005047118 RCV005231394

NM_002439.5(MSH3):c.316C>T (p.Gln106Ter)

SNV
Germline

Chr5:80656489

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA121288548

rs_149350323

5 SubmittersRCV000808146 RCV002325573 RCV003458538 RCV003461178

NM_002439.5(MSH3):c.439C>T (p.Pro147Ser)

SNV
Germline

Chr5:80665223

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA121290969

rs_977366961

5 SubmittersRCV000820203 RCV002332700 RCV003467496 RCV005359588

NM_002439.5(MSH3):c.446G>A (p.Ser149Asn)

SNV
Germline

Chr5:80665230

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4
MSH3-related disorder

Criteria Provided
Conflicting Classifications

CA121290978

rs_924517772

4 SubmittersRCV000798020 RCV002332607 RCV005036151 RCV004751710

NM_002439.5(MSH3):c.562C>T (p.Arg188Cys)

SNV
Germline

Chr5:80665346

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
MSH3-related disorder
Endometrial carcinoma
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA3327634

rs_147289289

11 SubmittersRCV000792353 RCV001024340 RCV002268282 RCV003413589 RCV003461068 RCV005392390

NM_002439.5(MSH3):c.574C>T (p.Gln192Ter)

SNV
Germline

Chr5:80665358

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3327636

rs_374133543

5 SubmittersRCV000797608 RCV001024483 RCV003467363 RCV003458525

NM_002439.5(MSH3):c.697G>T (p.Glu233Ter)

SNV
Germline

Chr5:80670214

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3327681

rs_756632960

3 SubmittersRCV000813568 RCV004028795 RCV005427309

NM_002439.5(MSH3):c.802C>T (p.Arg268Ter)

SNV
Germline

Chr5:80672253

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA121293962

rs_201033017

4 SubmittersRCV000808080 RCV001027086 RCV003458537 RCV003461177

NM_002439.5(MSH3):c.1256C>G (p.Ser419Ter)

SNV
Germline

Chr5:80679009

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3327842

rs_578113271

7 SubmittersRCV000794478 RCV002255519 RCV003461080 RCV003458519 RCV005392397

NM_002439.5(MSH3):c.1360C>T (p.Arg454Ter)

SNV
Germline

Chr5:80725472

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3327883

rs_539295465

7 SubmittersRCV000798380 RCV001011178 RCV002290440 RCV003461101 RCV005036153

NM_002439.5(MSH3):c.1586C>G (p.Ser529Ter)

SNV
Germline

Chr5:80741481

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3327977

rs_758191157

4 SubmittersRCV000823459 RCV002397732 RCV003461283 RCV003458550

NM_002439.5(MSH3):c.1896A>G (p.Lys632=)

SNV
Germline

Chr5:80761678

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
MSH3-related disorder
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA3328073

rs_201737845

8 SubmittersRCV000816035 RCV001013525 RCV003918276 RCV004028873

NM_002439.5(MSH3):c.1937A>G (p.Tyr646Cys)

SNV
Germline

Chr5:80767973

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA3328103

rs_772586624

7 SubmittersRCV000820472 RCV002255540 RCV004569754 RCV005392452

NM_002439.5(MSH3):c.2006G>A (p.Arg669Gln)

SNV
Germline

Chr5:80768042

Conflicting classifications of pathogenicity

Condition: not provided
MSH3-related disorder
Familial adenomatous polyposis 4
not specified
Familial adenomatous polyposis 4
Endometrial carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA3328111

rs_372048303

6 SubmittersRCV000810968 RCV003392617 RCV003444685 RCV005231372 RCV005392426 RCV001014019

NM_002439.5(MSH3):c.2041C>T (p.Pro681Ser)

SNV
Germline

Chr5:80768077

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
MSH3-related disorder
Familial adenomatous polyposis 4
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA3328116

rs_115198722

11 SubmittersRCV000812556 RCV001014195 RCV002268305 RCV003928282 RCV002254713 RCV005392429

NM_002439.5(MSH3):c.2179C>T (p.Arg727Ter)

SNV
Germline

Chr5:80768929

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3328156

rs_376667075

5 SubmittersRCV000817435 RCV002427027 RCV003461246 RCV003458547

NM_002439.5(MSH3):c.2262A>G (p.Ile754Met)

SNV
Germline

Chr5:80775702

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 4
Endometrial carcinoma
Endometrial carcinoma
MSH3-related disorder

Criteria Provided
Conflicting Classifications

CA3328185

rs_200819607

10 SubmittersRCV000815096 RCV001014973 RCV001816893 RCV005036200 RCV003461231 RCV003413642

NM_002439.5(MSH3):c.2438A>G (p.Lys813Arg)

SNV
Germline

Chr5:80787567

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4
Endometrial carcinoma
MSH3-related disorder
Familial adenomatous polyposis 4
not specified

Criteria Provided
Conflicting Classifications

CA3328261

rs_150446804

13 SubmittersRCV000821682 RCV001015536 RCV003461273 RCV005392453 RCV004751740 RCV004789225 RCV005231392

NM_002439.5(MSH3):c.2655A>G (p.Ser885=)

SNV
Germline

Chr5:80792844

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA3328309

rs_192592067

5 SubmittersRCV000812803 RCV001016223 RCV004028778

NM_002439.5(MSH3):c.2663C>G (p.Ser888Ter)

SNV
Germline

Chr5:80813591

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360273818

rs_1561486630

4 SubmittersRCV000804310 RCV002453785 RCV003461152 RCV003316811

NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter)

SNV
Germline

Chr5:80813614

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
MSH3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3328328

rs_777054839

8 SubmittersRCV000794026 RCV003458518 RCV001016296 RCV003461079 RCV004751705

NM_002439.5(MSH3):c.3000T>G (p.Asp1000Glu)

SNV
Germline

Chr5:80854316

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
MSH3-related disorder
Endometrial carcinoma
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA3328414

rs_139205893

9 SubmittersRCV000816940 RCV001017990 RCV003320218 RCV003948004 RCV005047104 RCV004569724

NM_002439.5(MSH3):c.3296C>T (p.Thr1099Met)

SNV
Germline

Chr5:80873281

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA3328498

rs_545543643

5 SubmittersRCV000797210 RCV002458438 RCV005036147

NM_002439.5(MSH3):c.3338T>C (p.Met1113Thr)

SNV
Germline

Chr5:80875786

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA3328526

rs_747331232

6 SubmittersRCV000799228 RCV002257960 RCV003320750 RCV005392406

NM_002439.5(MSH3):c.3382A>G (p.Met1128Val)

SNV
Germline

Chr5:80875830

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome
MSH3-related disorder
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA360347446

rs_1221498955

6 SubmittersRCV000821999 RCV002245692 RCV002257990 RCV004751742 RCV005047116

NM_002528.7(NTHL1):c.907G>C (p.Gly303Arg)

SNV
Germline

Chr16:2039932

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA276760101

rs_375024045

4 SubmittersRCV000823817 RCV001019169 RCV005429039

NM_002528.7(NTHL1):c.896C>T (p.Pro299Leu)

SNV
Germline

Chr16:2039943

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA7828067

rs_367629024

6 SubmittersRCV000821534 RCV001019003 RCV003467507

NM_002528.7(NTHL1):c.877C>G (p.Leu293Val)

SNV
Germline

Chr16:2039962

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA7828072

rs_200420874

5 SubmittersRCV000814532 RCV001018659 RCV003461223

NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)

SNV
Germline

Chr16:2040142

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7828117

rs_753029097

6 SubmittersRCV001784408 RCV000792395 RCV001027136

NM_002528.7(NTHL1):c.769G>A (p.Ala257Thr)

SNV
Germline

Chr16:2040155

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3
NTHL1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7828120

rs_148474733

9 SubmittersRCV000811178 RCV001026979 RCV002291703 RCV004751726 RCV003320216

NM_002528.7(NTHL1):c.712G>A (p.Ala238Thr)

SNV
Germline

Chr16:2040212

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
NTHL1-related disorder
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA7828136

rs_147559648

9 SubmittersRCV000801248 RCV001026335 RCV003928275 RCV003461127

NM_002528.7(NTHL1):c.652A>G (p.Met218Val)

SNV
Germline

Chr16:2043600

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3
NTHL1-related disorder

Criteria Provided
Conflicting Classifications

CA7828182

rs_367577861

11 SubmittersRCV000802228 RCV001025626 RCV003467389 RCV003928276

NM_002528.7(NTHL1):c.613G>A (p.Ala205Thr)

SNV
Germline

Chr16:2043639

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA7828192

rs_772432408

4 SubmittersRCV000813666 RCV002352424 RCV003461216

NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter)

SNV
Germline

Chr16:2043648

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA394291627

rs_919177150

4 SubmittersRCV000811739 RCV002363103 RCV003458215

NM_002528.7(NTHL1):c.577G>A (p.Gly193Ser)

SNV
Germline

Chr16:2043675

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA7828199

rs_200007034

7 SubmittersRCV000817579 RCV001024816 RCV002268310 RCV003153862

NM_002528.7(NTHL1):c.556G>A (p.Ala186Thr)

SNV
Germline

Chr16:2043696

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA7828202

rs_554393986

4 SubmittersRCV002352311 RCV000792690 RCV004771486

NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter)

SNV
Germline

Chr16:2044683

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA394294221

rs_1198246754

4 SubmittersRCV000810184 RCV001023343 RCV003458214

NM_002528.7(NTHL1):c.446G>C (p.Arg149Pro)

SNV
Germline

Chr16:2044709

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA7828254

rs_150437839

5 SubmittersRCV000817467 RCV001022934 RCV004569730

NM_002528.7(NTHL1):c.446G>A (p.Arg149Gln)

SNV
Germline

Chr16:2044709

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA7828255

rs_150437839

6 SubmittersRCV000799034 RCV002256512 RCV003461109

NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)

SNV
Germline

Chr16:2044722

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA7828260

rs_374489979

6 SubmittersRCV000801523 RCV002336609 RCV003458209

NM_002528.7(NTHL1):c.409C>T (p.Gln137Ter)

SNV
Germline

Chr16:2044746

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA276764627

rs_758667255

5 SubmittersRCV000807474 RCV002332652 RCV003458212

NM_002528.7(NTHL1):c.366C>G (p.Tyr122Ter)

SNV
Germline

Chr16:2044789

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA394294760

rs_371328106

4 SubmittersRCV000799280 RCV002352346 RCV003458208

NM_002528.7(NTHL1):c.366C>A (p.Tyr122Ter)

SNV
Germline

Chr16:2044789

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA7828275

rs_371328106

6 SubmittersRCV000798528 RCV001021416 RCV003458206

NM_002528.7(NTHL1):c.355G>T (p.Val119Leu)

SNV
Germline

Chr16:2044800

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7828281

rs_536140679

4 SubmittersRCV000794253 RCV003467340 RCV002352323

NM_002528.7(NTHL1):c.268A>G (p.Asn90Asp)

SNV
Germline

Chr16:2046214

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA7828334

rs_141903513

4 SubmittersRCV000818344 RCV001017522 RCV003467487

NM_002528.7(NTHL1):c.259C>T (p.Gln87Ter)

SNV
Germline

Chr16:2046223

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA7828335

rs_201671098

4 SubmittersRCV000808595 RCV003362964 RCV004789209

NM_002528.7(NTHL1):c.170G>A (p.Arg57His)

SNV
Germline

Chr16:2046312

Conflicting classifications of pathogenicity

Condition: not provided
NTHL1-related disorder
Familial adenomatous polyposis 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7828350

rs_774831009

7 SubmittersRCV000808834 RCV003411787 RCV005359565 RCV001013720

NM_002528.7(NTHL1):c.169C>T (p.Arg57Cys)

SNV
Germline

Chr16:2046313

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA7828352

rs_767591879

8 SubmittersRCV000820003 RCV001013758 RCV003483742

NM_002528.7(NTHL1):c.160C>T (p.Gln54Ter)

SNV
Germline

Chr16:2046322

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA394297934

rs_1596223384

3 SubmittersRCV000820504 RCV004029040 RCV003458217

NM_002528.7(NTHL1):c.151C>T (p.Arg51Trp)

SNV
Germline

Chr16:2046331

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3
NTHL1-related disorder

Criteria Provided
Conflicting Classifications

CA7828355

rs_376907606

7 SubmittersRCV000813521 RCV001013001 RCV003467468 RCV004751728

NM_002528.7(NTHL1):c.145C>T (p.Arg49Cys)

SNV
Germline

Chr16:2046337

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
NTHL1-related disorder
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA276765709

rs_371105614

6 SubmittersRCV000809525 RCV002397662 RCV004751723 RCV003467434

NM_002528.7(NTHL1):c.103G>C (p.Glu35Gln)

SNV
Germline

Chr16:2047721

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA027431

rs_747272786

6 SubmittersRCV000807595 RCV001010720 RCV003461171

NM_002528.7(NTHL1):c.91C>T (p.Leu31Phe)

SNV
Germline

Chr16:2047733

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA394298322

rs_1259870849

4 SubmittersRCV000815980 RCV002257982 RCV004569715

NM_002528.7(NTHL1):c.44T>C (p.Leu15Pro)

SNV
Germline

Chr16:2047780

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
NTHL1-related disorder
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA027827

rs_781328762

10 SubmittersRCV000822008 RCV001025785 RCV003396450 RCV005367592

NM_002528.7(NTHL1):c.37C>T (p.Arg13Trp)

SNV
Germline

Chr16:2047787

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3
NTHL1-related disorder

Criteria Provided
Conflicting Classifications

CA027813

rs_3087469

10 SubmittersRCV000802855 RCV001024999 RCV003467393 RCV003947990

NM_002528.7(NTHL1):c.29C>G (p.Thr10Ser)

SNV
Germline

Chr16:2047795

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3
not specified

Criteria Provided
Conflicting Classifications

CA027754

rs_370539291

10 SubmittersRCV000814011 RCV001024035 RCV003467472 RCV004596353

NM_002528.7(NTHL1):c.7G>T (p.Ala3Ser)

SNV
Germline

Chr16:2047817

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA027686

rs_753350404

5 SubmittersRCV000798390 RCV001019155 RCV003133619

NM_002528.7(NTHL1):c.-5C>G

SNV
Germline

Chr16:2047828

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA027634

rs_552723791

5 SubmittersRCV000791629 RCV002259015 RCV005012317

NM_001048174.2(MUTYH):c.1435-2A>C

SNV
Germline

Chr1:45329439

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340131987

rs_1553123105

2 SubmittersRCV000819095 RCV001011885

NM_001048174.2(MUTYH):c.264+1G>A

SNV
Germline

Chr1:45333412

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340136329

rs_1553130042

1 SubmittersRCV000800982

NM_000038.6(APC):c.532-2A>C

SNV
Germline

Chr5:112780788

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA360617493

rs_752152148

1 SubmittersRCV004562825

NM_000038.6(APC):c.1627-10T>A

SNV
Germline

Chr5:112828846

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA915942604

rs_863224538

3 SubmittersRCV005056574 RCV004562655 RCV004001678

NM_000038.6(APC):c.1627-2A>G

SNV
Germline

Chr5:112828854

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA360620464

rs_1580573837

1 SubmittersRCV004562711

NM_000038.6(APC):c.1958+5A>C

SNV
Germline

Chr5:112835170

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA915942609

rs_762899641

3 SubmittersRCV004561812 RCV004001565 RCV001013840

NM_000038.6(APC):c.933+5C>G

SNV
Germline

Chr5:112815598

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA915943470

rs_573528468

3 SubmittersRCV001019182 RCV004562810

NM_002439.5(MSH3):c.358+2T>G

SNV
Germline

Chr5:80656533

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA360266643

rs_1450314617

8 SubmittersRCV000815764 RCV002255536 RCV003458545 RCV003461236 RCV005047101

NM_002439.5(MSH3):c.1341-1G>T

SNV
Germline

Chr5:80725452

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA3327880

rs_61754780

8 SubmittersRCV000803244 RCV001010949 RCV003461143 RCV001523828

NM_002439.5(MSH3):c.1653+4A>G

SNV
Germline

Chr5:80741552

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA3327989

rs_373786812

5 SubmittersRCV000802434 RCV002257963 RCV005359552

NM_002439.5(MSH3):c.1763+2T>C

SNV
Germline

Chr5:80744617

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA121301514

rs_376456666

3 SubmittersRCV000802539 RCV002397623 RCV003458532

NM_002439.5(MSH3):c.1454-2A>G

SNV
Germline

Chr5:80728849

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA3327929

rs_1554070317

5 SubmittersRCV000810438 RCV002390632 RCV003458539 RCV003467440

NM_002439.5(MSH3):c.1896+2T>C

SNV
Germline

Chr5:80761680

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA360276754

rs_1580027713

4 SubmittersRCV000805762 RCV002406795 RCV003336199 RCV003467414

NM_002439.5(MSH3):c.2436-1G>A

SNV
Germline

Chr5:80787564

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA3328260

rs_200639359

8 SubmittersRCV000811107 RCV001015528 RCV003458541 RCV003467450 RCV005036187

NM_002439.5(MSH3):c.1764-1G>A

SNV
Germline

Chr5:80761545

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3328039

rs_367544716

4 SubmittersRCV000820000 RCV002397715 RCV003461264 RCV003458549

NM_002439.5(MSH3):c.3130+4T>G

SNV
Germline

Chr5:80864946

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA3328448

rs_764306633

4 SubmittersRCV000810585 RCV001018752 RCV005359570

NM_002439.5(MSH3):c.792+1G>A

SNV
Germline

Chr5:80670310

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA3327697

rs_749929790

3 SubmittersRCV000802454 RCV003458531 RCV004944174

NM_002439.5(MSH3):c.1568+1G>A

SNV
Germline

Chr5:80728966

Likely pathogenic

Familial adenomatous polyposis 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360274393

rs_1580589463

2 SubmittersRCV004588261 RCV000799225

NM_002439.5(MSH3):c.2655+1G>A

SNV
Germline

Chr5:80792845

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA360273072

rs_1580053768

4 SubmittersRCV000818546 RCV002453871 RCV003316814 RCV003467488

NM_001127511.3(APC):c.27G>C (p.Pro9=)

SNV
Germline

Chr5:112707744

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA124925113

rs_761592349

2 SubmittersRCV004596358 RCV004562797

NM_002528.7(NTHL1):c.526-1G>A

SNV
Germline

Chr16:2043727

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 3
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7828207

rs_779757251

10 SubmittersRCV002290473 RCV000824366 RCV001024197

NM_002528.7(NTHL1):c.686-7C>G

SNV
Germline

Chr16:2040245

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA7828142

rs_529341502

3 SubmittersRCV000806451 RCV005012337

NM_002528.7(NTHL1):c.354+2T>C

SNV
Germline

Chr16:2046126

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA394295013

rs_1239874051

3 SubmittersRCV000805618 RCV003458210

NM_002528.7(NTHL1):c.116-1G>A

SNV
Germline

Chr16:2046367

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA394298124

rs_1411394625

7 SubmittersRCV000808897 RCV001011341 RCV003458213

NM_002528.7(NTHL1):c.115+1G>A

SNV
Germline

Chr16:2047708

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA027520

rs_749908882

9 SubmittersRCV000989411 RCV001011335 RCV000813400

NM_000038.6(APC):c.3960G>A (p.Val1320=)

SNV
Germline

Chr5:112839554

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA445963953

rs_987999780

5 SubmittersRCV000874924 RCV003169192 RCV003768691 RCV004003101

NM_002439.5(MSH3):c.1313C>T (p.Ala438Val)

SNV
Germline

Chr5:80679066

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4
MSH3-related disorder

Criteria Provided
Conflicting Classifications

CA3327857

rs_35121792

7 SubmittersRCV000974203 RCV001010918 RCV005392604 RCV003972960

NM_002439.5(MSH3):c.1522A>G (p.Lys508Glu)

SNV
Germline

Chr5:80728919

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
MSH3-related disorder
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA3327945

rs_146768828

6 SubmittersRCV000963325 RCV001011998 RCV003916119 RCV005392589

NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr)

SNV
Germline

Chr5:80741466

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA3327975

rs_55724159

11 SubmittersRCV000966952 RCV001002124 RCV001254630 RCV001012233 RCV005392594

NM_002528.7(NTHL1):c.113C>T (p.Ala38Val)

SNV
Germline

Chr16:2047711

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA027490

rs_202082304

9 SubmittersRCV000961022 RCV001011260 RCV002268378 RCV005603671

NM_002439.5(MSH3):c.2005C>T (p.Arg669Trp)

SNV
Germline

Chr5:80768041

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
MSH3-related disorder
Familial adenomatous polyposis 4
not specified

Criteria Provided
Conflicting Classifications

CA3328110

rs_35045151

8 SubmittersRCV000909365 RCV001014041 RCV003902863 RCV005359656 RCV005231956

NM_002439.5(MSH3):c.2480A>G (p.His827Arg)

SNV
Germline

Chr5:80787609

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
not specified
MSH3-related disorder

Criteria Provided
Conflicting Classifications

CA3328269

rs_138339194

8 SubmittersRCV000898245 RCV001015645 RCV002291708 RCV003320768 RCV003922910

NM_002528.7(NTHL1):c.792-3C>T

SNV
Germline

Chr16:2040050

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
NTHL1-deficiency tumor predisposition syndrome
Familial adenomatous polyposis 3
NTHL1-related disorder

Criteria Provided
Conflicting Classifications

CA7828094

rs_3087467

9 SubmittersRCV000896292 RCV001027234 RCV002479026 RCV005359648 RCV005231948 RCV003958053

NM_002439.5(MSH3):c.1258A>G (p.Ser420Gly)

SNV
Germline

Chr5:80679011

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
not specified

Criteria Provided
Conflicting Classifications

CA3327844

rs_55660516

5 SubmittersRCV000927600 RCV001010610 RCV005359668 RCV002268356

NM_002439.5(MSH3):c.1469C>A (p.Ser490Tyr)

SNV
Germline

Chr5:80728866

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
MSH3-related disorder
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA3327933

rs_76249824

7 SubmittersRCV000919708 RCV001011727 RCV001818866 RCV003913088 RCV005359664

NM_001048174.2(MUTYH):c.1503G>A (p.Leu501=)

SNV
Germline

Chr1:45329369

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA340131681

rs_1570312139

3 SubmittersRCV000938031 RCV002400064 RCV004800643

NM_001048174.2(MUTYH):c.774G>A (p.Gly258=)

SNV
Germline

Chr1:45332241

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA059368

rs_771290019

4 SubmittersRCV000936787 RCV003505148 RCV003169397

NM_001048174.2(MUTYH):c.174A>T (p.Leu58=)

SNV
Germline

Chr1:45333503

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA417880477

rs_786201439

3 SubmittersRCV001410920 RCV005384898

NM_000038.6(APC):c.672C>A (p.Ile224=)

SNV
Germline

Chr5:112792472

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA045928

rs_367816013

4 SubmittersRCV001025582 RCV001156935 RCV004562853

NM_000038.6(APC):c.1905A>G (p.Gly635=)

SNV
Germline

Chr5:112835112

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445758915

rs_1580604886

3 SubmittersRCV004659270 RCV004029689

NM_000038.6(APC):c.7357A>C (p.Arg2453=)

SNV
Germline

Chr5:112842951

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA446210484

rs_1580681532

5 SubmittersRCV002267048 RCV002382113 RCV004562861

NM_002439.5(MSH3):c.144C>T (p.Asp48=)

SNV
Germline

Chr5:80654871

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA3327454

rs_747024539

5 SubmittersRCV000938647 RCV002256623 RCV005359686

NM_002439.5(MSH3):c.195G>C (p.Ala65=)

SNV
Germline

Chr5:80654922

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA3327513

rs_761734241

5 SubmittersRCV000936349 RCV002256617 RCV005359678

NM_002439.5(MSH3):c.1177G>A (p.Val393Met)

SNV
Germline

Chr5:80678930

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
MSH3-related disorder
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA3327830

rs_761779919

8 SubmittersRCV000936767 RCV001010146 RCV002268368 RCV003942940 RCV005359682

NM_002439.5(MSH3):c.2740A>G (p.Ile914Val)

SNV
Germline

Chr5:80813668

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
MSH3-related disorder
not specified
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA3328341

rs_148633216

8 SubmittersRCV000934882 RCV001016459 RCV003978096 RCV001800904 RCV005359673

NM_002439.5(MSH3):c.2964C>T (p.Ala988=)

SNV
Germline

Chr5:80854280

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA445165488

rs_1580091611

4 SubmittersRCV000938907 RCV002434271 RCV005392566

NM_002439.5(MSH3):c.3181A>G (p.Arg1061Gly)

SNV
Germline

Chr5:80873166

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA3328477

rs_746782115

7 SubmittersRCV000936173 RCV001019023 RCV003153881

NM_002439.5(MSH3):c.2544-10T>C

SNV
Germline

Chr5:80792723

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA3328293

rs_753997322

3 SubmittersRCV000938339 RCV005359685 RCV002256622

NM_002528.7(NTHL1):c.791+10T>G

SNV
Germline

Chr16:2040123

Conflicting classifications of pathogenicity

Condition: not provided
NTHL1-related disorder
not specified
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA7828113

rs_564181825

5 SubmittersRCV000935577 RCV003970595 RCV002268362 RCV005012397

NM_000038.6(APC):c.136-5A>G

SNV
Germline

Chr5:112766321

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA915943440

rs_1581159924

3 SubmittersRCV001011054 RCV004030045

NM_001048174.2(MUTYH):c.973C>T (p.Leu325=)

SNV
Germline

Chr1:45331790

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA417879781

rs_1570386293

4 SubmittersRCV000985854 RCV001466423 RCV003584791

NM_001048174.2(MUTYH):c.437G>A (p.Trp146Ter)

SNV
Germline

Chr1:45332818

Pathogenic

Condition: not provided
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA340135796

rs_1306473047

3 SubmittersRCV000985861 RCV001218539 RCV002346192

NM_000038.6(APC):c.1815T>C (p.Asp605=)

SNV
Germline

Chr5:112835022

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445758853

rs_1239983557

4 SubmittersRCV000985287 RCV001013291 RCV003769287

NM_000038.6(APC):c.3765C>T (p.Asn1255=)

SNV
Germline

Chr5:112839359

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445963684

rs_876659957

5 SubmittersRCV000985298 RCV001177949 RCV004563613

NM_000038.6(APC):c.4563A>G (p.Glu1521=)

SNV
Germline

Chr5:112840157

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA446206588

rs_1580649669

2 SubmittersRCV000985304 RCV004030096

NM_000038.6(APC):c.5118A>G (p.Ser1706=)

SNV
Germline

Chr5:112840712

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA446209589

rs_1580656415

3 SubmittersRCV000985307 RCV002346191 RCV004030097

NM_000038.6(APC):c.6081C>A (p.Leu2027=)

SNV
Germline

Chr5:112841675

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA446209018

rs_1316220949

3 SubmittersRCV000985312 RCV004563614

NM_000038.6(APC):c.6230C>T (p.Thr2077Ile)

SNV
Germline

Chr5:112841824

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
Familial adenomatous polyposis 1
Desmoid disease, hereditary

Criteria Provided
Conflicting Classifications

CA044126

rs_755022193

6 SubmittersRCV000985313 RCV001025030 RCV004004405 RCV004569825 RCV005367650

NM_000038.6(APC):c.7738T>G (p.Ser2580Ala)

SNV
Germline

Chr5:112843332

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16038136

rs_1580686014

4 SubmittersRCV000985322 RCV002400156 RCV004563615

NM_001048174.2(MUTYH):c.421-2A>G

SNV
Unknown

Chr1:45332836

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340135875

rs_786203161

1 SubmittersRCV000986306

NM_000038.6(APC):c.1773C>G (p.Ala591=)

SNV
Germline

Chr5:112834980

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA445758437

rs_1580603391

3 SubmittersRCV000987560 RCV002400162

NM_002439.5(MSH3):c.2212A>T (p.Lys738Ter)

SNV
Germline

Chr5:80768962

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360279659

rs_1580035037

4 SubmittersRCV000987530 RCV001014807 RCV001048457

NM_000038.6(APC):c.6285T>C (p.Asp2095=)

SNV
Germline

Chr5:112841879

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA446209507

rs_1580669392

2 SubmittersRCV000998415 RCV005093011

NM_001048174.2(MUTYH):c.1051C>T (p.Gln351Ter)

SNV
Germline

Chr1:45331712

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA055177

rs_745910470

2 SubmittersRCV001009972 RCV002549306

NM_001048174.2(MUTYH):c.793C>T (p.Gln265Ter)

SNV
Germline

Chr1:45332222

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340134488

rs_1553127659

2 SubmittersRCV001018313 RCV001860903

NM_001048174.2(MUTYH):c.699G>C (p.Gln233His)

SNV
Germline

Chr1:45332396

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA059057

rs_765339120

3 SubmittersRCV001026865 RCV003614078

NM_001048174.2(MUTYH):c.606G>C (p.Gln202His)

SNV
Germline

Chr1:45332574

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA340135257

rs_199989617

2 SubmittersRCV001025797 RCV003614077

NM_001048174.2(MUTYH):c.438G>A (p.Trp146Ter)

SNV
Germline

Chr1:45332817

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340135791

rs_1570423722

3 SubmittersRCV001023769 RCV004721705 RCV003461398

NM_001048174.2(MUTYH):c.360C>G (p.Tyr120Ter)

SNV
Germline

Chr1:45333115

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340136101

rs_1570433022

3 SubmittersRCV001022500 RCV005428051 RCV005093220

NM_001048174.2(MUTYH):c.208G>C (p.Gly70Arg)

SNV
Germline

Chr1:45333469

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA340136440

rs_1570443086

2 SubmittersRCV001017526 RCV001308214

NM_001128425.2(MUTYH):c.32T>G (p.Leu11Arg)

SNV
Germline

Chr1:45340223

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA089471

rs_752665489

4 SubmittersRCV001019783 RCV001766848 RCV002551820

NM_000038.6(APC):c.145A>T (p.Lys49Ter)

SNV
Germline

Chr5:112766335

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Multiple Submitters
No Conflicts

CA16021663

rs_1581160030

4 SubmittersRCV001011686 RCV004563630 RCV004807252

NM_000038.6(APC):c.252A>G (p.Gly84=)

SNV
Germline

Chr5:112767220

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA032400

rs_375051600

6 SubmittersRCV001015846 RCV003769478 RCV004004551

NM_000038.6(APC):c.739C>T (p.Gln247Ter)

SNV
Germline

Chr5:112801288

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Multiple Submitters
No Conflicts

CA16022946

rs_1580454483

3 SubmittersRCV001026383 RCV004563734 RCV005359785

NM_000038.6(APC):c.884G>T (p.Ser295Ile)

SNV
Germline

Chr5:112815544

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA051048

rs_752996559

3 SubmittersRCV001018410 RCV004563663

NM_000038.6(APC):c.1180C>T (p.Gln394Ter)

SNV
Germline

Chr5:112819212

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16023889

rs_770507436

3 SubmittersRCV001010162 RCV004563624

NM_000038.6(APC):c.1624C>T (p.Gln542Ter)

SNV
Germline

Chr5:112828004

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16024856

rs_1580569680

4 SubmittersRCV001012465 RCV003461327

NM_000038.6(APC):c.2828C>G (p.Ser943Ter)

SNV
Germline

Chr5:112838422

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16027501

rs_1554084512

3 SubmittersRCV001016705 RCV004563652

NM_000038.6(APC):c.2855C>G (p.Ala952Gly)

SNV
Germline

Chr5:112838449

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16027558

rs_776560257

2 SubmittersRCV001016771 RCV004004560

NM_000038.6(APC):c.2930G>A (p.Gly977Asp)

SNV
Germline

Chr5:112838524

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16027732

rs_749807999

4 SubmittersRCV001017527 RCV002549455 RCV004004565

NM_000038.6(APC):c.3000C>A (p.Tyr1000Ter)

SNV
Germline

Chr5:112838594

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16027896

rs_1580629755

3 SubmittersRCV001017988 RCV004563660

NM_000038.6(APC):c.3121C>T (p.Gln1041Ter)

SNV
Germline

Chr5:112838715

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16028172

rs_1580631181

2 SubmittersRCV001018712 RCV004563666

NM_000038.6(APC):c.3268C>T (p.Gln1090Ter)

SNV
Germline

Chr5:112838862

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16028507

rs_1580633219

3 SubmittersRCV001019531 RCV002549506

NM_000038.6(APC):c.3367C>T (p.Gln1123Ter)

SNV
Germline

Chr5:112838961

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16028711

rs_1580634617

2 SubmittersRCV001020107 RCV004563673

NM_000038.6(APC):c.3769G>T (p.Glu1257Ter)

SNV
Germline

Chr5:112839363

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029600

rs_1580639836

2 SubmittersRCV001021087 RCV004563678

NM_000038.6(APC):c.3902C>T (p.Thr1301Ile)

SNV
Germline

Chr5:112839496

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16029897

rs_781535021

4 SubmittersRCV001021402 RCV004569998 RCV004004616

NM_000038.6(APC):c.3925G>T (p.Glu1309Ter)

SNV
Germline

Chr5:112839519

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
APC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16029947

rs_1321583762

7 SubmittersRCV001021453 RCV001845052 RCV001269628 RCV004726788

NM_000038.6(APC):c.3941G>A (p.Arg1314Lys)

SNV
Germline

Chr5:112839535

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16029978

rs_1381855818

3 SubmittersRCV001021481 RCV003769543 RCV004004617

NM_000038.6(APC):c.3946G>C (p.Ala1316Pro)

SNV
Germline

Chr5:112839540

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA037131

rs_761621587

3 SubmittersRCV001021490 RCV003769545

NM_000038.6(APC):c.4032A>C (p.Ser1344=)

SNV
Germline

Chr5:112839626

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445964054

rs_756433996

4 SubmittersRCV001021717 RCV004004620 RCV004030809

NM_000038.6(APC):c.4370C>T (p.Ala1457Val)

SNV
Germline

Chr5:112839964

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16030904

rs_1580647237

2 SubmittersRCV001022377 RCV003769559

NM_000038.6(APC):c.5078A>G (p.Glu1693Gly)

SNV
Germline

Chr5:112840672

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA040604

rs_533667536

5 SubmittersRCV001023501 RCV001157158 RCV004563699

NM_000038.6(APC):c.5372A>G (p.Lys1791Arg)

SNV
Germline

Chr5:112840966

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA041698

rs_775740112

4 SubmittersRCV001023991 RCV002551885

NM_000038.6(APC):c.5377G>A (p.Ala1793Thr)

SNV
Germline

Chr5:112840971

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16033081

rs_1472921765

2 SubmittersRCV001023996 RCV005093241

NM_000038.6(APC):c.6742A>T (p.Lys2248Ter)

SNV
Germline

Chr5:112842336

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16036065

rs_1580674179

2 SubmittersRCV001025603 RCV004563724

NM_000038.6(APC):c.7114C>T (p.Gln2372Ter)

SNV
Germline

Chr5:112842708

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16036823

rs_1580678722

3 SubmittersRCV001026057 RCV002551948

NM_000038.6(APC):c.7456C>T (p.Pro2486Ser)

SNV
Germline

Chr5:112843050

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA048101

rs_768537235

4 SubmittersRCV001026457 RCV002551964 RCV004807269

NM_000038.6(APC):c.8276G>T (p.Arg2759Leu)

SNV
Germline

Chr5:112843870

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA050386

rs_538289470

3 SubmittersRCV001027353 RCV004563750

NM_000038.6(APC):c.8411A>G (p.Gln2804Arg)

SNV
Germline

Chr5:112844005

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16039582

rs_1475247315

5 SubmittersRCV001017723 RCV004768783 RCV002549460

NM_002439.5(MSH3):c.565C>T (p.Gln189Ter)

SNV
Germline

Chr5:80665349

Pathogenic/Likely pathogenic

Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360264570

rs_1580546793

4 SubmittersRCV003467682 RCV001024380 RCV001225754 RCV003458592

NM_002439.5(MSH3):c.640C>T (p.Gln214Ter)

SNV
Germline

Chr5:80670157

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA121293005

rs_952650934

4 SubmittersRCV001390095 RCV001025235 RCV003458593

NM_002439.5(MSH3):c.1264C>T (p.Gln422Ter)

SNV
Germline

Chr5:80679017

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360269001

rs_1580556516

4 SubmittersRCV001010624 RCV003461317 RCV001044153 RCV003458587

NM_002439.5(MSH3):c.3341A>G (p.His1114Arg)

SNV
Germline

Chr5:80875789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360347350

rs_1158289237

4 SubmittersRCV001020041 RCV003230277 RCV001060601

NM_002528.7(NTHL1):c.130C>G (p.His44Asp)

SNV
Germline

Chr16:2046352

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA276765719

rs_374988261

5 SubmittersRCV001012077 RCV001040110 RCV005012443

NM_000038.6(APC):c.423-11A>G

SNV
Germline

Chr5:112775618

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
6 conditions

Reviewed By Expert Panel

CA915943443

rs_1580358224

5 SubmittersRCV001022097 RCV003148912 RCV005394640

NM_000038.6(APC):c.933+2T>G

SNV
Germline

Chr5:112815595

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360619057

rs_1057517559

2 SubmittersRCV001019181 RCV003337345

NM_000038.6(APC):c.933+829A>G

SNV
Germline

Chr5:112816422

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA915943471

rs_1580516055

2 SubmittersRCV001019183 RCV003769509

NM_000038.6(APC):c.1549-3C>T

SNV
Germline

Chr5:112827926

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA561904863

rs_1188933026

3 SubmittersRCV001012075 RCV004004505 RCV004563634

NM_002439.5(MSH3):c.2435+2T>C

SNV
Germline

Chr5:80778838

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360281951

rs_1580045730

3 SubmittersRCV001015524 RCV001378551 RCV003458589

NM_001048174.2(MUTYH):c.780A>G (p.Thr260=)

SNV
Germline

Chr1:45332235

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA417880161

rs_1557470829

4 SubmittersRCV001043689 RCV004649417 RCV005236555

NM_001048174.2(MUTYH):c.704G>C (p.Trp235Ser)

SNV
Germline

Chr1:45332391

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340134746

rs_1570406302

3 SubmittersRCV001068994 RCV005401719

NM_001048174.2(MUTYH):c.241C>G (p.Arg81Gly)

SNV
Germline

Chr1:45333436

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340136374

rs_765123255

2 SubmittersRCV001052961 RCV004649433

NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter)

SNV
Germline

Chr1:45333509

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA340136522

rs_1645371113

6 SubmittersRCV001065387 RCV002268427 RCV001182520

NM_001128425.2(MUTYH):c.187G>A (p.Gly63Arg)

SNV
Germline

Chr1:45333574

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA21839914

rs_541110664

5 SubmittersRCV001063392 RCV001179407 RCV004596405

NM_000038.6(APC):c.158G>T (p.Gly53Val)

SNV
Germline

Chr5:112766348

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16021692

rs_772787939

2 SubmittersRCV002553076 RCV005463213

NM_000038.6(APC):c.521T>G (p.Leu174Ter)

SNV
Germline

Chr5:112775727

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16022466

rs_1757571583

1 SubmittersRCV002553298

NM_000038.6(APC):c.1268G>A (p.Trp423Ter)

SNV
Germline

Chr5:112819300

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16024079

rs_1762865724

4 SubmittersRCV003106107 RCV002374927 RCV004564524

NM_000038.6(APC):c.1353T>A (p.Cys451Ter)

SNV
Germline

Chr5:112821936

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16024265

rs_1387916046

1 SubmittersRCV002553928

NM_000038.6(APC):c.2475T>G (p.Tyr825Ter)

SNV
Germline

Chr5:112838069

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16026765

rs_1554084195

1 SubmittersRCV004564480

NM_000038.6(APC):c.2774G>A (p.Ser925Asn)

SNV
Germline

Chr5:112838368

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16027383

rs_1197529917

2 SubmittersRCV002434424 RCV004570086

NM_000038.6(APC):c.3225T>A (p.Tyr1075Ter)

SNV
Germline

Chr5:112838819

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16028408

rs_768123840

3 SubmittersRCV004564503 RCV005372522

NM_000038.6(APC):c.3329C>A (p.Ser1110Ter)

SNV
Germline

Chr5:112838923

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16028632

rs_1580634079

1 SubmittersRCV004564526

NM_000038.6(APC):c.3376A>G (p.Ser1126Gly)

SNV
Germline

Chr5:112838970

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian cancer
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16028730

rs_1561584350

4 SubmittersRCV002454272 RCV003153898 RCV004004709 RCV004563785

NM_000038.6(APC):c.3379C>T (p.Gln1127Ter)

SNV
Germline

Chr5:112838973

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16028737

rs_1765409926

3 SubmittersRCV002451265 RCV004564539

NM_000038.6(APC):c.3466G>T (p.Glu1156Ter)

SNV
Germline

Chr5:112839060

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16028940

rs_1444797750

1 SubmittersRCV004564518

NM_000038.6(APC):c.3638C>G (p.Ser1213Ter)

SNV
Germline

Chr5:112839232

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029322

rs_1554085199

2 SubmittersRCV002553825

NM_000038.6(APC):c.3845C>G (p.Ser1282Ter)

SNV
Germline

Chr5:112839439

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029767

rs_1765536690

2 SubmittersRCV004564502

NM_000038.6(APC):c.4760C>A (p.Ser1587Ter)

SNV
Germline

Chr5:112840354

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16031769

rs_1765760073

2 SubmittersRCV004564495

NM_000038.6(APC):c.5101C>T (p.Gln1701Ter)

SNV
Germline

Chr5:112840695

Pathogenic

Familial adenomatous polyposis 1
Familial multiple polyposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16032484

rs_1561597691

2 SubmittersRCV004570233 RCV003336297

NM_000038.6(APC):c.6188A>G (p.His2063Arg)

SNV
Germline

Chr5:112841782

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA044057

rs_764000877

2 SubmittersRCV003339434 RCV004563783

NM_000038.6(APC):c.6755C>T (p.Pro2252Leu)

SNV
Germline

Chr5:112842349

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA046039

rs_574050786

2 SubmittersRCV002363558 RCV002551395

NM_002439.5(MSH3):c.703C>T (p.Gln235Ter)

SNV
Germline

Chr5:80670220

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3327683

rs_371356175

4 SubmittersRCV001038468 RCV002372759 RCV003461442 RCV003458596

NM_002439.5(MSH3):c.790G>T (p.Glu264Ter)

SNV
Germline

Chr5:80670307

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA3327696

rs_766997264

4 SubmittersRCV001043289 RCV002416355 RCV003458599 RCV003461461

NM_002439.5(MSH3):c.1256C>T (p.Ser419Leu)

SNV
Germline

Chr5:80679009

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA3327843

rs_578113271

3 SubmittersRCV001051206 RCV002416387 RCV005036339

NM_002439.5(MSH3):c.1534G>T (p.Glu512Ter)

SNV
Germline

Chr5:80728931

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA360274311

rs_1379605717

5 SubmittersRCV001040240 RCV002254717 RCV002400237 RCV003461452

NM_002439.5(MSH3):c.2200C>T (p.Arg734Ter)

SNV
Germline

Chr5:80768950

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3328162

rs_770330684

6 SubmittersRCV001071793 RCV002429746 RCV003462624 RCV003458618 RCV005036383

NM_002439.5(MSH3):c.2421G>A (p.Trp807Ter)

SNV
Germline

Chr5:80778822

Pathogenic/Likely pathogenic

Condition: not provided
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360281912

rs_1744356274

3 SubmittersRCV001038215 RCV003461439 RCV003458594

NM_002528.7(NTHL1):c.176C>T (p.Ala59Val)

SNV
Germline

Chr16:2046306

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
NTHL1-deficiency tumor predisposition syndrome
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA7828348

rs_749810824

6 SubmittersRCV001066597 RCV002418550 RCV005359842 RCV004570279

NM_002528.7(NTHL1):c.170G>T (p.Arg57Leu)

SNV
Germline

Chr16:2046312

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7828351

rs_774831009

3 SubmittersRCV001071040 RCV003469267 RCV002418558

NM_002528.7(NTHL1):c.80A>G (p.Glu27Gly)

SNV
Germline

Chr16:2047744

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA027380

rs_762937286

4 SubmittersRCV001054038 RCV003160427 RCV003467774

NM_001048174.2(MUTYH):c.1102+2T>C

SNV
Germline

Chr1:45331659

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340133229

rs_1644886403

1 SubmittersRCV001040726

NM_000038.6(APC):c.531+1G>A

SNV
Germline

Chr5:112775738

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA360617487

rs_876659973

4 SubmittersRCV001066456 RCV003339456

NM_002439.5(MSH3):c.2435+1G>C

SNV
Germline

Chr5:80778837

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360281948

rs_1744356530

2 SubmittersRCV001054767 RCV003458607

NM_002439.5(MSH3):c.237+2T>C

SNV
Germline

Chr5:80654966

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360265754

rs_1480047980

6 SubmittersRCV001053813 RCV002256666 RCV003467773 RCV005359820

NM_002439.5(MSH3):c.1897-1G>A

SNV
Germline

Chr5:80767932

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA360277424

rs_1744149615

5 SubmittersRCV001040485 RCV002409388 RCV003458598 RCV003461454

NM_002439.5(MSH3):c.1653+1G>A

SNV
Germline

Chr5:80741549

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3327988

rs_550626088

3 SubmittersRCV001072039 RCV005443234 RCV003316828

NM_002528.7(NTHL1):c.354+1G>A

SNV
Germline

Chr16:2046127

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA394295023

rs_1377633383

5 SubmittersRCV001070359 RCV002258127 RCV003469263

NM_000038.6(APC):c.7513C>T (p.Arg2505Ter)

SNV
Germline

Chr5:112843107

Pathogenic/Likely pathogenic

Condition: not provided
Familial multiple polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16037666

rs_79630786

7 SubmittersRCV001092765 RCV003230636 RCV002393350 RCV003337354

NM_000038.6(APC):c.8454C>T (p.Ser2818=)

SNV
Germline

Chr5:112844048

Conflicting classifications of pathogenicity

APC-Associated Polyposis Disorders
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA446211404

rs_1766752417

6 SubmittersRCV001157357 RCV003769754 RCV004000257 RCV002445400

NM_001048174.2(MUTYH):c.1525A>C (p.Ile509Leu)

SNV
Germline

Chr1:45329347

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340131601

rs_757615745

3 SubmittersRCV001174791 RCV003614079 RCV002393386

NM_001048174.2(MUTYH):c.453C>G (p.Tyr151Ter)

SNV
Germline

Chr1:45332802

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340135708

rs_1645192561

2 SubmittersRCV001183600 RCV003462655

NM_001048174.2(MUTYH):c.117C>T (p.Gly39=)

SNV
Germline

Chr1:45333560

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA417702207

rs_1557487475

2 SubmittersRCV001186119 RCV001862928

NM_000038.6(APC):c.1032T>A (p.Cys344Ter)

SNV
Germline

Chr5:112819064

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16023571

rs_1762819450

3 SubmittersRCV001191223 RCV004564648

NM_000038.6(APC):c.3026A>G (p.His1009Arg)

SNV
Germline

Chr5:112838620

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA034318

rs_756131416

4 SubmittersRCV001178073 RCV001776128 RCV004570344

NM_000038.6(APC):c.3831A>G (p.Leu1277=)

SNV
Germline

Chr5:112839425

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA445963725

rs_1765533502

5 SubmittersRCV001188510 RCV004564635 RCV004807420 RCV004998704

NM_000038.6(APC):c.4337C>T (p.Ala1446Val)

SNV
Germline

Chr5:112839931

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16030834

rs_1765655722

4 SubmittersRCV001185187 RCV001800959 RCV003770058

NM_000038.6(APC):c.5776A>G (p.Ile1926Val)

SNV
Germline

Chr5:112841370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16033969

rs_1766040137

3 SubmittersRCV001176243 RCV004564583

NM_000038.6(APC):c.6676C>T (p.Arg2226Ter)

SNV
Germline

Chr5:112842270

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16035931

rs_1064794626

4 SubmittersRCV001180170 RCV005411669 RCV003336314

NM_000038.6(APC):c.6747A>G (p.Lys2249=)

SNV
Germline

Chr5:112842341

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA446209981

rs_1196959150

6 SubmittersRCV001182097 RCV003478715 RCV004008273 RCV004570361

NM_000038.6(APC):c.7079G>A (p.Gly2360Asp)

SNV
Germline

Chr5:112842673

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified

Criteria Provided
Conflicting Classifications

CA16036753

rs_750960862

5 SubmittersRCV001177236 RCV002067883 RCV003493808

NM_000038.6(APC):c.7679G>A (p.Arg2560Gln)

SNV
Germline

Chr5:112843273

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA048947

rs_759069096

4 SubmittersRCV001190913 RCV002560964

NM_000038.6(APC):c.8480G>A (p.Gly2827Glu)

SNV
Germline

Chr5:112844074

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA050883

rs_571511652

5 SubmittersRCV001284727 RCV003769950 RCV001179764 RCV004006600

NM_000038.6(APC):c.*5G>C

SNV
Germline

Chr5:112844131

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA1139659008

rs_1766773164

2 SubmittersRCV001183192 RCV004789435

NM_000038.6(APC):c.*7G>A

SNV
Germline

Chr5:112844133

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA802030099

rs_1225192406

3 SubmittersRCV001176667 RCV001562961 RCV004789412

NM_000038.6(APC):c.*9A>G

SNV
Germline

Chr5:112844135

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA913188217

rs_1766773391

2 SubmittersRCV001191679 RCV004789459

NM_001048174.2(MUTYH):c.492+18G>A

SNV
Germline

Chr1:45332745

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA058275

rs_377647533

2 SubmittersRCV001185242 RCV003770061

NM_001048174.2(MUTYH):c.493-5A>C

SNV
Germline

Chr1:45332692

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA913187521

rs_758377868

2 SubmittersRCV001176274 RCV003614080

NM_001048174.2(MUTYH):c.849+7C>T

SNV
Germline

Chr1:45332159

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA059667

rs_775005184

2 SubmittersRCV001186083 RCV001428339

NM_001048174.2(MUTYH):c.378+1G>T

SNV
Germline

Chr1:45333096

Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast carcinoma
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340136055

rs_1645259682

3 SubmittersRCV001190400 RCV001554307 RCV003142114

NM_001048174.2(MUTYH):c.913+8C>A

SNV
Germline

Chr1:45332015

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA913187600

rs_1644978399

2 SubmittersRCV001175931 RCV002068158

NM_001048174.2(MUTYH):c.305-11C>G

SNV
Germline

Chr1:45333181

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA522810472

rs_1488458340

2 SubmittersRCV001175806 RCV002067872

NM_001048174.2(MUTYH):c.116-54C>G

SNV
Germline

Chr1:45333615

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA1139655543

rs_367908623

3 SubmittersRCV001187506 RCV005232156 RCV002559980

NM_000038.6(APC):c.220+18G>A

SNV
Germline

Chr5:112766428

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA124975098

rs_927125994

2 SubmittersRCV001178648 RCV004564592

NM_000038.6(APC):c.477C>A (p.Tyr159Ter)

SNV
Germline

Chr5:112775683

Pathogenic

Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16022367

rs_863224281

3 SubmittersRCV001192977 RCV003336327

NM_000038.6(APC):c.3329C>G (p.Ser1110Ter)

SNV
Germline

Chr5:112838923

Pathogenic

Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16028633

rs_1580634079

3 SubmittersRCV001192832 RCV001358570

NM_001048174.2(MUTYH):c.1275T>G (p.Tyr425Ter)

SNV
Germline

Chr1:45331299

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340132735

rs_774968843

2 SubmittersRCV005384981 RCV001218876

NM_001048174.2(MUTYH):c.378G>A (p.Gln126=)

SNV
Germline

Chr1:45333097

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA417880113

rs_1645260006

2 SubmittersRCV001219938 RCV002327518

NM_000038.6(APC):c.113A>C (p.Glu38Ala)

SNV
Germline

Chr5:112755003

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16021587

rs_1754800670

3 SubmittersRCV002451477 RCV004570481 RCV004726977

NM_000038.6(APC):c.2815A>T (p.Lys939Ter)

SNV
Germline

Chr5:112838409

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16027471

rs_1765271867

1 SubmittersRCV004561996

NM_000038.6(APC):c.3166A>C (p.Ile1056Leu)

SNV
Germline

Chr5:112838760

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA034532

rs_770526770

2 SubmittersRCV002322053 RCV004561966

NM_000038.6(APC):c.3311C>A (p.Ser1104Ter)

SNV
Germline

Chr5:112838905

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16028600

rs_1580633796

2 SubmittersRCV004561975

NM_000038.6(APC):c.3842C>G (p.Ser1281Ter)

SNV
Germline

Chr5:112839436

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16029761

rs_1765536013

1 SubmittersRCV004570551

NM_000038.6(APC):c.3850G>T (p.Glu1284Ter)

SNV
Germline

Chr5:112839444

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16029777

rs_1765537897

1 SubmittersRCV004570491

NM_000038.6(APC):c.4466T>G (p.Leu1489Ter)

SNV
Germline

Chr5:112840060

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16031106

rs_1765687695

2 SubmittersRCV004561986

NM_000038.6(APC):c.6344T>A (p.Leu2115Ter)

SNV
Germline

Chr5:112841938

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16035226

rs_876659022

2 SubmittersRCV004561976

NM_000038.6(APC):c.7813C>G (p.Gln2605Glu)

SNV
Germline

Chr5:112843407

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16038305

rs_201625142

2 SubmittersRCV004570499 RCV003163678

NM_002439.5(MSH3):c.253A>T (p.Arg85Ter)

SNV
Germline

Chr5:80656426

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA360266142

rs_1749286503

4 SubmittersRCV001222817 RCV002451518 RCV003458648 RCV003462759

NM_002439.5(MSH3):c.1366G>T (p.Glu456Ter)

SNV
Germline

Chr5:80725478

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360273392

rs_963234468

4 SubmittersRCV001214348 RCV002379812 RCV003462725 RCV003458638

NM_002439.5(MSH3):c.2389G>T (p.Glu797Ter)

SNV
Germline

Chr5:80778790

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA3328239

rs_748016039

4 SubmittersRCV001220539 RCV002451507 RCV003458645 RCV003469380

NM_002528.7(NTHL1):c.665G>A (p.Trp222Ter)

SNV
Germline

Chr16:2043587

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA394290951

rs_2084297946

3 SubmittersRCV001219000 RCV005372594 RCV005621084

NM_001048174.2(MUTYH):c.1414C>T (p.Gln472Ter)

SNV
Germline

Chr1:45330536

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340132356

rs_1644624908

2 SubmittersRCV001202994 RCV004944860

NM_001048174.2(MUTYH):c.849A>G (p.Arg283=)

SNV
Germline

Chr1:45332166

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA417879897

rs_369973885

3 SubmittersRCV001205348 RCV005372585

NM_001048174.2(MUTYH):c.460C>G (p.Arg154Gly)

SNV
Germline

Chr1:45332795

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340135674

rs_747993448

4 SubmittersRCV001209735 RCV001524498

NM_000038.6(APC):c.1797C>A (p.Cys599Ter)

SNV
Germline

Chr5:112835004

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16025250

rs_1764702814

1 SubmittersRCV004564686

NM_000038.6(APC):c.1994T>G (p.Leu665Ter)

SNV
Germline

Chr5:112837588

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16025674

rs_1765084859

3 SubmittersRCV002418715 RCV004564701

NM_000038.6(APC):c.2211C>A (p.Tyr737Ter)

SNV
Germline

Chr5:112837805

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16026175

rs_1765131004

2 SubmittersRCV004561953

NM_000038.6(APC):c.2397T>G (p.Tyr799Ter)

SNV
Germline

Chr5:112837991

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16026600

rs_1765170817

1 SubmittersRCV002561675

NM_000038.6(APC):c.7441A>T (p.Thr2481Ser)

SNV
Germline

Chr5:112843035

Conflicting classifications of pathogenicity

APC-related disorder
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16037526

rs_1321275331

4 SubmittersRCV003398936 RCV004010669 RCV004564696 RCV004944868

NM_001048174.2(MUTYH):c.1239+1G>T

SNV
Germline

Chr1:45331419

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340132819

rs_1644818073

1 SubmittersRCV001210519

NM_001048174.2(MUTYH):c.705-2A>C

SNV
Germline

Chr1:45332312

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340134737

rs_1645057147

1 SubmittersRCV001212901

NM_001048174.2(MUTYH):c.115+1G>A

SNV
Germline

Chr1:45334390

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340136918

rs_1330675110

3 SubmittersRCV001212090 RCV002402628

NM_002439.5(MSH3):c.238-1G>A

SNV
Germline

Chr5:80656410

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA360266081

rs_1749285930

5 SubmittersRCV001212021 RCV002255629 RCV003458637 RCV003462710

NM_002439.5(MSH3):c.3001-2A>G

SNV
Germline

Chr5:80864811

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360346013

rs_886037878

4 SubmittersRCV001203900 RCV002436783 RCV003469329 RCV003458632

NM_001048174.2(MUTYH):c.264+10C>T

SNV
Germline

Chr1:45333403

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA21839606

rs_369242529

4 SubmittersRCV001223926 RCV003321810 RCV002249812 RCV002339597

NM_002439.5(MSH3):c.238-2A>G

SNV
Germline

Chr5:80656409

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360266078

rs_1749285874

3 SubmittersRCV001219744 RCV003163691 RCV003458644

NM_002439.5(MSH3):c.1453+5A>C

SNV
Germline

Chr5:80725570

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA1077983564

rs_1743273324

3 SubmittersRCV001217045 RCV002393512 RCV002480715

NM_002439.5(MSH3):c.2319-2A>G

SNV
Germline

Chr5:80778718

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360281694

rs_1197719947

3 SubmittersRCV002447099 RCV003458641 RCV001218526

NM_002528.7(NTHL1):c.791+2T>C

SNV
Germline

Chr16:2040131

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA394288571

rs_2084241095

3 SubmittersRCV001220484 RCV002418757 RCV003462750

NM_001048174.2(MUTYH):c.371G>A (p.Trp124Ter)

SNV
Germline

Chr1:45333104

Pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA340136078

rs_1645261795

2 SubmittersRCV001225731 RCV002339609

NM_001048174.2(MUTYH):c.355A>G (p.Asn119Asp)

SNV
Germline

Chr1:45333120

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340136114

rs_1645267570

2 SubmittersRCV001230803 RCV002327552

NM_000038.6(APC):c.3944C>A (p.Ser1315Ter)

SNV
Germline/somatic

Chr5:112839538

Pathogenic

Familial adenomatous polyposis 1
Neoplasm

Criteria Provided
Single Submitter

CA16029984

rs_1765564648

2 SubmittersRCV004562035 RCV004671279

NM_000038.6(APC):c.4700C>G (p.Ser1567Ter)

SNV
Germline/somatic

Chr5:112840294

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16031638

rs_1765745643

3 SubmittersRCV002339645 RCV004562055 RCV005232197

NM_000038.6(APC):c.5432C>G (p.Ser1811Ter)

SNV
Germline

Chr5:112841026

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16033207

rs_1060503325

2 SubmittersRCV002567894

NM_000038.6(APC):c.6656C>T (p.Ala2219Val)

SNV
Germline

Chr5:112842250

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA045637

rs_774479966

2 SubmittersRCV004562007 RCV004649519

NM_000038.6(APC):c.6744A>G (p.Lys2248=)

SNV
Germline

Chr5:112842338

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Gastric cancer
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA446209980

rs_1266979535

3 SubmittersRCV003770269 RCV005359976 RCV004659429

NM_000038.6(APC):c.8137A>G (p.Met2713Val)

SNV
Germline

Chr5:112843731

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16039002

rs_80277939

2 SubmittersRCV002418792 RCV004562031

NM_002439.5(MSH3):c.292A>T (p.Lys98Ter)

SNV
Germline

Chr5:80656465

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360266286

rs_1749288232

4 SubmittersRCV001234759 RCV002436919 RCV003469429 RCV004590257

NM_001048174.2(MUTYH):c.605A>G (p.Gln202Arg)

SNV
Germline

Chr1:45332575

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA340135259

rs_1645128943

3 SubmittersRCV001239087 RCV002366051 RCV003320816

NM_000038.6(APC):c.55G>T (p.Glu19Ter)

SNV
Germline

Chr5:112754945

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16021460

rs_1754786861

1 SubmittersRCV004562104

NM_000038.6(APC):c.1693G>T (p.Glu565Ter)

SNV
Germline

Chr5:112828922

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16025007

rs_890665991

2 SubmittersRCV004562101

NM_000038.6(APC):c.2211C>G (p.Tyr737Ter)

SNV
Germline

Chr5:112837805

Pathogenic

Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16026176

rs_1765131004

4 SubmittersRCV004004896 RCV004562094 RCV005463338

NM_000038.6(APC):c.3786T>A (p.Tyr1262Ter)

SNV
Germline

Chr5:112839380

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16029635

rs_147411334

2 SubmittersRCV001243559

NM_000038.6(APC):c.834+3A>T

SNV
Germline

Chr5:112801386

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1139658991

rs_1554076230

2 SubmittersRCV004562009 RCV004944908

NM_002439.5(MSH3):c.1341-2A>G

SNV
Germline

Chr5:80725451

Likely pathogenic

Familial adenomatous polyposis 4
Endometrial carcinoma
Familial adenomatous polyposis 4
Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA3327879

rs_750876165

5 SubmittersRCV003458650 RCV005036495 RCV001227144 RCV002379868 RCV004570559

NM_002439.5(MSH3):c.1764-2A>G

SNV
Germline

Chr5:80761544

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 4
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3328038

rs_773032453

3 SubmittersRCV003316834 RCV001225852 RCV005372602

NM_000038.6(APC):c.1720G>T (p.Glu574Ter)

SNV
Germline

Chr5:112828949

Pathogenic

Familial adenomatous polyposis 1
Colorectal cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA16025069

rs_1764024563

2 SubmittersRCV001253489 RCV001262201

NM_000038.6(APC):c.2555T>A (p.Leu852Ter)

SNV
Germline

Chr5:112838149

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16026930

rs_1405022793

3 SubmittersRCV001269929 RCV002430066 RCV004562122

NM_000038.6(APC):c.957G>A (p.Leu319=)

SNV
Germline

Chr5:112818989

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA445755754

rs_1762806023

3 SubmittersRCV001284729 RCV004562124 RCV003339580

NM_001048174.2(MUTYH):c.1435-2A>T

SNV
Germline

Chr1:45329439

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340131984

rs_1553123105

2 SubmittersRCV001298566

NM_001048174.2(MUTYH):c.212G>A (p.Ser71Asn)

SNV
Germline

Chr1:45333465

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340136431

rs_1645359691

2 SubmittersRCV001294644 RCV004944965

NM_001127511.3(APC):c.-40G>A

SNV
Germline

Chr5:112707678

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1573442617

rs_1750595782

2 SubmittersRCV002541887

NM_000038.6(APC):c.1744G>T (p.Glu582Ter)

SNV
Germline

Chr5:112834951

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16025128

rs_1764693751

1 SubmittersRCV001310094

NM_000038.6(APC):c.3991A>T (p.Arg1331Ter)

SNV
Germline

Chr5:112839585

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16030083

rs_1765576393

1 SubmittersRCV001310092

NM_000038.6(APC):c.531T>C (p.Asn177=)

SNV
Germline

Chr5:112775737

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445753084

rs_1234730026

3 SubmittersRCV002350579 RCV004005087 RCV004562941

NM_000038.6(APC):c.933G>C (p.Lys311Asn)

SNV
Germline

Chr5:112815593

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA16023349

rs_1762431806

3 SubmittersRCV003166909 RCV004562993

NM_000038.6(APC):c.4475C>A (p.Ala1492Asp)

SNV
Germline

Chr5:112840069

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16031128

rs_1401643874

4 SubmittersRCV001776197 RCV005385036 RCV003473860

NM_000038.6(APC):c.5600T>A (p.Phe1867Tyr)

SNV
Germline

Chr5:112841194

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16033586

rs_1765988972

2 SubmittersRCV004034922 RCV004562949

NM_000038.6(APC):c.220+6T>C

SNV
Germline

Chr5:112766416

Conflicting classifications of pathogenicity

Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA1573495346

rs_1756339861

3 SubmittersRCV002476594 RCV004005207 RCV003770970

NM_000038.6(APC):c.827A>G (p.Asn276Ser)

SNV
Germline

Chr5:112801376

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16023136

rs_1760810320

3 SubmittersRCV002431950 RCV004005164 RCV003770893

NM_000038.6(APC):c.1743+5C>G

SNV
Germline

Chr5:112828977

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA1573509116

rs_876658386

3 SubmittersRCV002413831 RCV004563066

NM_000038.6(APC):c.4021A>G (p.Ser1341Gly)

SNV
Germline

Chr5:112839615

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16030144

rs_1765583281

3 SubmittersRCV001762582 RCV004036451 RCV004563033

NM_000038.6(APC):c.6610C>G (p.Arg2204Gly)

SNV
Germline

Chr5:112842204

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA045518

rs_752654519

6 SubmittersRCV002368153 RCV002547515 RCV003320828 RCV004005238

NM_002528.7(NTHL1):c.-15C>T

SNV
Germline

Chr16:2047838

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA394298863

rs_1474892742

3 SubmittersRCV001348752 RCV002431983 RCV004570847

NM_000038.6(APC):c.230T>A (p.Leu77Ter)

SNV
Germline

Chr5:112767198

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA16021843

rs_2149787552

2 SubmittersRCV001358256 RCV002432004

NM_000038.6(APC):c.423-8A>G

SNV
Germline

Chr5:112775621

Likely pathogenic

Carcinoma of colon
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA2499217419

rs_2149614206

5 SubmittersRCV001356837 RCV003382549 RCV003771044

NM_000038.6(APC):c.4161T>A (p.Cys1387Ter)

SNV
Germline

Chr5:112839755

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16030449

rs_2149907906

2 SubmittersRCV001358356 RCV004563075

NM_000038.6(APC):c.4606G>T (p.Glu1536Ter)

SNV
Unknown

Chr5:112840200

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16031422

rs_1554086001

2 SubmittersRCV001358112 RCV004563074

NM_000038.6(APC):c.3754T>C (p.Ser1252Pro)

SNV
Germline

Chr5:112839348

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16029567

rs_1561587386

2 SubmittersRCV003771111 RCV004036946

NM_001048174.2(MUTYH):c.1240-1G>A

SNV
Germline

Chr1:45331335

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340132812

rs_876660837

1 SubmittersRCV001379351

NM_001048174.2(MUTYH):c.849+1G>T

SNV
Germline

Chr1:45332165

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340134278

rs_2149136521

1 SubmittersRCV001378451

NM_001048174.2(MUTYH):c.607-2A>T

SNV
Germline

Chr1:45332490

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340135248

rs_1361763237

1 SubmittersRCV001378738

NM_001048174.2(MUTYH):c.493-1G>A

SNV
Germline

Chr1:45332688

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340135486

rs_1423002555

1 SubmittersRCV001377842

NM_000038.6(APC):c.422+1G>C

SNV
Germline

Chr5:112767391

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA360617474

rs_1756480727

1 SubmittersRCV003771225

NM_000038.6(APC):c.1313-2A>C

SNV
Germline

Chr5:112821894

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA360619528

rs_1561545780

1 SubmittersRCV003771226

NM_000038.6(APC):c.1409-1G>C

SNV
Germline

Chr5:112827107

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Multiple Submitters
No Conflicts

CA360619891

rs_863225313

3 SubmittersRCV003771229 RCV004803677

NM_000038.6(APC):c.1549-1G>T

SNV
Germline

Chr5:112827928

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360619901

rs_863225316

3 SubmittersRCV004563852

NM_002439.5(MSH3):c.2543+1G>A

SNV
Germline

Chr5:80787673

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA3328275

rs_758437568

3 SubmittersRCV001379005 RCV003298626 RCV003458676

NM_002439.5(MSH3):c.2813+1G>A

SNV
Germline

Chr5:80813742

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA360274128

rs_2112054627

3 SubmittersRCV001378094 RCV003458675 RCV002438883

NM_002439.5(MSH3):c.3001-1G>A

SNV
Germline

Chr5:80864812

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360346017

rs_2112118327

2 SubmittersRCV001379873 RCV003458677

NM_001048174.2(MUTYH):c.914-1G>T

SNV
Germline

Chr1:45331850

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340133947

rs_2149130255

2 SubmittersRCV001523926 RCV001385504

NM_001048174.2(MUTYH):c.811C>T (p.Gln271Ter)

SNV
Germline

Chr1:45332204

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340134418

rs_2149137694

1 SubmittersRCV001380116

NM_001048174.2(MUTYH):c.148C>T (p.Gln50Ter)

SNV
Germline

Chr1:45333529

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340136588

rs_1645377813

1 SubmittersRCV001382773

NM_000038.6(APC):c.148C>T (p.Gln50Ter)

SNV
Germline

Chr5:112766338

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16021670

rs_1756316465

2 SubmittersRCV003771264 RCV005453290

NM_000038.6(APC):c.423-2A>C

SNV
Germline

Chr5:112775627

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360617484

rs_879254087

4 SubmittersRCV003298629 RCV002550275

NM_000038.6(APC):c.1958+2T>G

SNV
Germline

Chr5:112835167

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Familial multiple polyposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA360623925

rs_2149844646

3 SubmittersRCV002550265 RCV002298942

NM_000038.6(APC):c.2507C>A (p.Ser836Ter)

SNV
Germline

Chr5:112838101

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16026826

rs_1580623270

3 SubmittersRCV004563883 RCV002432072

NM_000038.6(APC):c.2557G>T (p.Glu853Ter)

SNV
Germline

Chr5:112838151

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16026936

rs_876659738

1 SubmittersRCV002551537

NM_000038.6(APC):c.2868C>G (p.Tyr956Ter)

SNV
Germline

Chr5:112838462

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16027588

rs_2149879114

3 SubmittersRCV004563892

NM_000038.6(APC):c.3103C>T (p.Gln1035Ter)

SNV
Germline

Chr5:112838697

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16028132

rs_2149884384

3 SubmittersRCV002322368 RCV004563893

NM_000038.6(APC):c.3709C>T (p.Gln1237Ter)

SNV
Germline

Chr5:112839303

Pathogenic

not specified
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029471

rs_1185643240

2 SubmittersRCV001800993 RCV004563872

NM_000038.6(APC):c.3724C>T (p.Gln1242Ter)

SNV
Germline

Chr5:112839318

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029505

rs_1460397656

3 SubmittersRCV004563865

NM_000038.6(APC):c.3907C>T (p.Gln1303Ter)

SNV
Germline

Chr5:112839501

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029905

rs_2149901776

2 SubmittersRCV002551573

NM_000038.6(APC):c.4339C>T (p.Gln1447Ter)

SNV
Germline

Chr5:112839933

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16030837

rs_1561591598

2 SubmittersRCV003771243

NM_000038.6(APC):c.4537G>T (p.Glu1513Ter)

SNV
Germline

Chr5:112840131

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16031258

rs_1765705285

1 SubmittersRCV004563899

NM_000038.6(APC):c.5525C>A (p.Ser1842Ter)

SNV
Germline

Chr5:112841119

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16033420

rs_2149942405

1 SubmittersRCV004563885

NM_002439.5(MSH3):c.76C>T (p.Arg26Ter)

SNV
Germline

Chr5:80654803

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA3327428

rs_770190473

4 SubmittersRCV001383336 RCV002404898 RCV003458684 RCV003469691

NM_002439.5(MSH3):c.721C>T (p.Gln241Ter)

SNV
Germline

Chr5:80670238

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360266872

rs_1481996174

3 SubmittersRCV001384688 RCV002377569 RCV003458689

NM_002439.5(MSH3):c.724C>T (p.Gln242Ter)

SNV
Germline

Chr5:80670241

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA3327687

rs_772046189

4 SubmittersRCV001380626 RCV003355449 RCV003458678 RCV003469652

NM_002439.5(MSH3):c.747T>A (p.Cys249Ter)

SNV
Germline

Chr5:80670264

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360266930

rs_1272356369

3 SubmittersRCV001384797 RCV003169947 RCV003458690

NM_002439.5(MSH3):c.1144A>T (p.Lys382Ter)

SNV
Germline

Chr5:80675099

Pathogenic/Likely pathogenic

Condition: not provided
Endometrial carcinoma
Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3327805

rs_139170496

5 SubmittersRCV001386309 RCV003463012 RCV003458692 RCV002456603

NM_002439.5(MSH3):c.1428T>A (p.Tyr476Ter)

SNV
Germline

Chr5:80725540

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA360273670

rs_1398195482

5 SubmittersRCV001384622 RCV003458688 RCV003298630 RCV003462999

NM_002439.5(MSH3):c.1686G>A (p.Trp562Ter)

SNV
Germline

Chr5:80744538

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA360274688

rs_1395288001

5 SubmittersRCV001384173 RCV003458686 RCV004945108 RCV003469704

NM_002439.5(MSH3):c.1744C>T (p.Gln582Ter)

SNV
Germline

Chr5:80744596

Pathogenic

Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3328019

rs_750104015

2 SubmittersRCV001389064 RCV003458697

NM_002439.5(MSH3):c.1828C>T (p.Gln610Ter)

SNV
Germline

Chr5:80761610

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA360276598

rs_1360794165

3 SubmittersRCV001381128 RCV003458680 RCV003462974

NM_002439.5(MSH3):c.2392C>T (p.Gln798Ter)

SNV
Germline

Chr5:80778793

Pathogenic

Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360281848

rs_2112007877

2 SubmittersRCV001388452 RCV003458696

NM_002439.5(MSH3):c.2420G>A (p.Trp807Ter)

SNV
Germline

Chr5:80778821

Pathogenic

Condition: not provided
Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA360281909

rs_2112007993

3 SubmittersRCV001381640 RCV003458681 RCV004639610

NM_002439.5(MSH3):c.2620C>T (p.Gln874Ter)

SNV
Germline

Chr5:80792809

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA360272989

rs_2112026812

3 SubmittersRCV001382218 RCV003458682 RCV004570943

NM_002439.5(MSH3):c.2749C>T (p.Gln917Ter)

SNV
Germline

Chr5:80813677

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA360273998

rs_1745048937

4 SubmittersRCV002438890 RCV001385720 RCV003458691

NM_002528.7(NTHL1):c.791+1G>A

SNV
Germline

Chr16:2040132

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 3
Hereditary cancer-predisposing syndrome
NTHL1-related disorder

Criteria Provided
Conflicting Classifications

CA7828115

rs_374616565

5 SubmittersRCV001381694 RCV003469663 RCV002420858 RCV004751966

NM_002528.7(NTHL1):c.736A>T (p.Lys246Ter)

SNV
Germline

Chr16:2040188

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA394289027

rs_879181418

3 SubmittersRCV001390301 RCV005453291 RCV003316841

NM_000038.6(APC):c.6267A>G (p.Glu2089=)

SNV
Germline

Chr5:112841861

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA446209496

rs_2149961047

2 SubmittersRCV005001221 RCV004563935

NM_000038.6(APC):c.3951A>G (p.Glu1317=)

SNV
Germline

Chr5:112839545

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA445963942

rs_1183026416

5 SubmittersRCV004998915 RCV004563966 RCV005385105

NM_000038.6(APC):c.6033A>T (p.Ser2011=)

SNV
Germline

Chr5:112841627

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA043803

rs_750703971

4 SubmittersRCV002359046 RCV004007113 RCV004563969

NM_002528.7(NTHL1):c.373C>T (p.Leu125=)

SNV
Germline

Chr16:2044782

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA492953016

rs_1397440217

3 SubmittersRCV001489073 RCV005395038

NM_000038.6(APC):c.3133C>T (p.Gln1045Ter)

SNV
Germline

Chr5:112838727

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16028199

rs_2149885099

5 SubmittersRCV001508528 RCV002564249 RCV004037889

NM_001048174.2(MUTYH):c.116-53C>T

SNV
Germline

Chr1:45333614

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA2499214781

rs_2149177611

2 SubmittersRCV001524020 RCV002568052

NM_000038.6(APC):c.1549-12T>C

SNV
Germline

Chr5:112827917

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA2499217451

rs_2149813051

3 SubmittersRCV001525542 RCV004564012

NM_000038.6(APC):c.4495G>C (p.Gly1499Arg)

SNV
Germline

Chr5:112840089

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA039232

rs_756912930

4 SubmittersRCV001525485 RCV004008848 RCV004564011

NM_002528.7(NTHL1):c.745A>T (p.Lys249Ter)

SNV
Unknown

Chr16:2040179

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA394288951

rs_2150938327

2 SubmittersRCV001533141

NM_000038.6(APC):c.3581C>A (p.Ser1194Ter)

SNV
Germline

Chr5:112839175

Pathogenic

Familial multiple polyposis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029200

rs_2149894857

4 SubmittersRCV001553561 RCV002334597 RCV003458075 RCV004564017

NM_000038.6(APC):c.532-16T>G

SNV
Germline

Chr5:112780774

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA2499217410

rs_2149638830

3 SubmittersRCV001564090 RCV004656628 RCV004571064

NM_000038.6(APC):c.2684C>G (p.Ser895Ter)

SNV
Germline

Chr5:112838278

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16027193

rs_2149875189

3 SubmittersRCV001580136

NM_002528.7(NTHL1):c.115+4G>A

SNV
Germline

Chr16:2047705

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA620372615

rs_780886475

4 SubmittersRCV001584661 RCV002388611 RCV005005974

NM_000038.6(APC):c.646-1G>A

SNV
Germline

Chr5:112792445

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360617505

rs_78847145

6 SubmittersRCV001723314 RCV002361005 RCV002539747

NM_001048174.2(MUTYH):c.895C>T (p.Pro299Ser)

SNV
Germline

Chr1:45332041

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA21836751

rs_867991237

6 SubmittersRCV001765793 RCV002255688 RCV002544071

NM_000038.6(APC):c.219A>G (p.Lys73=)

SNV
Germline

Chr5:112766409

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445753051

rs_2149784873

3 SubmittersRCV001759213 RCV003456243

NM_000038.6(APC):c.7899T>C (p.Gly2633=)

SNV
Germline

Chr5:112843493

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA446210944

rs_2149995808

3 SubmittersRCV001774870 RCV003772074 RCV005453335

NM_000038.6(APC):c.1120C>A (p.Arg374=)

SNV
Germline

Chr5:112819152

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445960288

rs_947634162

3 SubmittersRCV001774917 RCV002440865 RCV004564023

NM_002528.7(NTHL1):c.525+2T>G

SNV
Germline

Chr16:2044628

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394294037

rs_2150942179

5 SubmittersRCV003238507 RCV003470889 RCV003355542

NM_001048174.2(MUTYH):c.378+11G>A

SNV
Germline

Chr1:45333086

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2473713072

rs_1557482167

3 SubmittersRCV001761745 RCV003238609 RCV004017864

NM_001048174.2(MUTYH):c.1434+1G>C

SNV
Germline

Chr1:45330515

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340132289

rs_876659420

2 SubmittersRCV001782472

NM_000038.6(APC):c.1775T>G (p.Leu592Ter)

SNV
Germline

Chr5:112834982

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Familial multiple polyposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16025197

rs_1764700195

4 SubmittersRCV002397750 RCV001801038 RCV004564715 RCV004770205

NM_000038.6(APC):c.3283C>T (p.Gln1095Ter)

SNV
Germline

Chr5:112838877

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16028541

rs_2149888710

5 SubmittersRCV002449428 RCV001801091 RCV002541343

NM_000038.6(APC):c.3817A>T (p.Arg1273Ter)

SNV
Germline

Chr5:112839411

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029705

rs_2149899615

2 SubmittersRCV001811703 RCV004564716

NM_002439.5(MSH3):c.1453+15T>C

SNV
Germline

Chr5:80725580

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA3327909

rs_200717987

4 SubmittersRCV001812578 RCV002465906 RCV005361731

NM_000038.6(APC):c.730-13T>C

SNV
Germline

Chr5:112801266

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA2573052384

rs_2149711198

2 SubmittersRCV001805684 RCV004040918

NM_000038.6(APC):c.396A>G (p.Gly132=)

SNV
Germline

Chr5:112767364

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445753418

rs_1060504884

3 SubmittersRCV001820732 RCV004040991

NM_000038.6(APC):c.2054G>A (p.Trp685Ter)

SNV
Germline

Chr5:112837648

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16025811

rs_2149859555

3 SubmittersRCV001823513

NM_000038.6(APC):c.3747C>A (p.Cys1249Ter)

SNV
Germline

Chr5:112839341

Pathogenic

Hepatoblastoma
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029552

rs_2149898263

3 SubmittersRCV001843902 RCV004564728

NM_000038.6(APC):c.3638C>A (p.Ser1213Ter)

SNV
Germline

Chr5:112839232

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16029321

rs_1554085199

1 SubmittersRCV003772831

NM_000038.6(APC):c.3928A>T (p.Lys1310Ter)

SNV
Germline

Chr5:112839522

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029954

rs_2149902263

3 SubmittersRCV002352643 RCV003337380

NM_001048174.2(MUTYH):c.541C>T (p.Gln181Ter)

SNV
Germline

Chr1:45332639

Pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA340135377

rs_2149151527

3 SubmittersRCV001874411 RCV002359317

NM_001048174.2(MUTYH):c.300T>A (p.Tyr100Ter)

SNV
Germline

Chr1:45333289

Pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340136238

rs_774798236

3 SubmittersRCV001931690 RCV002361270 RCV003493896

NM_000038.6(APC):c.1959-2A>T

SNV
Germline

Chr5:112837551

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA360617491

rs_876658214

1 SubmittersRCV002571201

NM_002439.5(MSH3):c.3130+1G>A

SNV
Germline

Chr5:80864943

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360346529

rs_2112118578

2 SubmittersRCV002018960 RCV003336492

NM_000038.6(APC):c.4678G>T (p.Glu1560Ter)

SNV
Germline

Chr5:112840272

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16031586

rs_2149920946

1 SubmittersRCV003772606

NM_000038.6(APC):c.730-494C>G

SNV
Germline

Chr5:112800785

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2573138903

rs_2149709778

2 SubmittersRCV002386689 RCV003772734

NM_000038.6(APC):c.221-2A>T

SNV
Germline

Chr5:112767187

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA360617471

rs_786201291

1 SubmittersRCV003773489

NM_000038.6(APC):c.6760A>T (p.Lys2254Ter)

SNV
Germline

Chr5:112842354

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16036099

rs_2149972499

3 SubmittersRCV002361226 RCV003337376

NM_000038.6(APC):c.322G>T (p.Gly108Ter)

SNV
Germline

Chr5:112767290

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16022026

rs_2149788717

1 SubmittersRCV002556380

NM_000038.6(APC):c.1106T>A (p.Leu369Ter)

SNV
Germline

Chr5:112819138

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16023734

rs_2149781233

2 SubmittersRCV003772517

NM_002528.7(NTHL1):c.634A>C (p.Lys212Gln)

SNV
Germline

Chr16:2043618

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA394291280

rs_1247089981

3 SubmittersRCV002370446 RCV001905670 RCV003458234

NM_002528.7(NTHL1):c.568C>T (p.Gln190Ter)

SNV
Germline

Chr16:2043684

Pathogenic

Condition: not provided
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA394292091

rs_1455020789

2 SubmittersRCV001999770 RCV003458237

NM_000038.6(APC):c.2853T>G (p.Tyr951Ter)

SNV
Germline

Chr5:112838447

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16027554

rs_575406600

2 SubmittersRCV004564886 RCV005465648

NM_000038.6(APC):c.6893C>G (p.Ala2298Gly)

SNV
Germline

Chr5:112842487

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16036374

rs_1554087829

4 SubmittersRCV003325594 RCV003773307 RCV004011102 RCV004945878

NM_002439.5(MSH3):c.1896+1G>A

SNV
Germline

Chr5:80761679

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA360276752

rs_1330593620

4 SubmittersRCV001966957 RCV002407220 RCV003458809 RCV003471219

NM_001048174.2(MUTYH):c.1434+2T>C

SNV
Germline

Chr1:45330514

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340132285

rs_2149102678

1 SubmittersRCV002010543

NM_001048174.2(MUTYH):c.913+1G>A

SNV
Germline

Chr1:45332022

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340133992

rs_2149133294

1 SubmittersRCV002044114

NM_000038.6(APC):c.62C>G (p.Ser21Ter)

SNV
Germline

Chr5:112754952

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16021477

rs_1361289668

1 SubmittersRCV004571492

NM_000038.6(APC):c.5029G>T (p.Gly1677Ter)

SNV
Germline

Chr5:112840623

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16032333

rs_2149930219

2 SubmittersRCV003337373

NM_000038.6(APC):c.3077A>G (p.Asn1026Ser)

SNV
Germline

Chr5:112838671

Likely pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA16028071

rs_1114167603

3 SubmittersRCV002553643 RCV003166991

NM_002439.5(MSH3):c.579+1G>A

SNV
Germline

Chr5:80665364

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360264654

rs_2112809006

5 SubmittersRCV002011206 RCV002352732 RCV003464382 RCV003458816

NM_000038.6(APC):c.729+3T>C

SNV
Germline

Chr5:112792532

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA2537935448

rs_1554074811

2 SubmittersRCV002386877 RCV004565173

NM_000038.6(APC):c.423-2A>G

SNV
Germline

Chr5:112775627

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360617485

rs_879254087

3 SubmittersRCV002331534 RCV002564397

NM_000038.6(APC):c.532-2A>T

SNV
Germline

Chr5:112780788

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA041465

rs_752152148

2 SubmittersRCV004565141

NM_000038.6(APC):c.2224A>G (p.Ile742Val)

SNV
Germline

Chr5:112837818

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA031412

rs_748046147

3 SubmittersRCV003167106 RCV004564812

NM_000038.6(APC):c.1549-19T>G

SNV
Germline

Chr5:112827910

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA2573138844

rs_2149812994

1 SubmittersRCV003772698

NM_001048174.2(MUTYH):c.1276C>T (p.Gln426Ter)

SNV
Germline

Chr1:45331298

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340132734

rs_769152217

1 SubmittersRCV001909873

NM_002439.5(MSH3):c.3142C>T (p.Gln1048Ter)

SNV
Germline

Chr5:80873127

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360346806

rs_2112128589

3 SubmittersRCV001916863 RCV004641799 RCV003458793

NM_000038.6(APC):c.834+5A>G

SNV
Germline

Chr5:112801388

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA2573138909

rs_2149712663

3 SubmittersRCV004656778 RCV004043878

NM_000038.6(APC):c.6601G>A (p.Gly2201Arg)

SNV
Germline

Chr5:112842195

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA045466

rs_753573633

5 SubmittersRCV004564876 RCV002361291 RCV004596500

NM_000038.6(APC):c.2377C>T (p.Gln793Ter)

SNV
Germline

Chr5:112837971

Pathogenic

Familial multiple polyposis syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16026555

rs_2149867683

4 SubmittersRCV002300632 RCV003478902 RCV004564882

NM_000038.6(APC):c.474T>A (p.Tyr158Ter)

SNV
Germline

Chr5:112775680

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16022359

rs_1060504891

1 SubmittersRCV002563620

NM_001048174.2(MUTYH):c.247C>G (p.Leu83Val)

SNV
Germline

Chr1:45333430

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340136363

rs_2149172338

2 SubmittersRCV001976684 RCV005251309

NM_000038.6(APC):c.2958T>G (p.Tyr986Ter)

SNV
Germline

Chr5:112838552

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16027794

rs_746581330

1 SubmittersRCV004564887

NM_000038.6(APC):c.1492A>T (p.Arg498Ter)

SNV
Germline

Chr5:112827191

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16024573

rs_2149809668

1 SubmittersRCV003772932

NM_000038.6(APC):c.5152G>A (p.Ala1718Thr)

SNV
Germline

Chr5:112840746

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16032591

rs_2149933300

2 SubmittersRCV003167035 RCV004564794

NM_000038.6(APC):c.1626+1G>T

SNV
Germline

Chr5:112828007

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360620038

rs_1554081934

2 SubmittersRCV003773147

NM_000038.6(APC):c.206T>A (p.Leu69Ter)

SNV
Germline

Chr5:112766396

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA030661

rs_752519066

1 SubmittersRCV004564853

NM_002439.5(MSH3):c.2253+2T>A

SNV
Germline

Chr5:80769005

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360279835

rs_2112885348

2 SubmittersRCV002018849 RCV003458811

NM_002439.5(MSH3):c.2084+1G>A

SNV
Germline

Chr5:80768121

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360278044

rs_2112884587

3 SubmittersRCV002004134 RCV002423239 RCV003138034

NM_001048174.2(MUTYH):c.228C>G (p.Tyr76Ter)

SNV
Germline

Chr1:45333449

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340136402

rs_121908380

2 SubmittersRCV001942189

NM_000038.6(APC):c.6835A>T (p.Lys2279Ter)

SNV
Germline

Chr5:112842429

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16036252

rs_2149974329

1 SubmittersRCV004571724

NM_000038.6(APC):c.531+3A>T

SNV
Germline

Chr5:112775740

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA2573138630

rs_1114167550

1 SubmittersRCV004571465

NM_000038.6(APC):c.5562C>G (p.Tyr1854Ter)

SNV
Germline

Chr5:112841156

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16033501

rs_2149943308

2 SubmittersRCV004564801 RCV004945777

NM_000038.6(APC):c.2177T>G (p.Leu726Ter)

SNV
Germline

Chr5:112837771

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16026099

rs_2149862441

3 SubmittersRCV004564889 RCV005403162

NM_001127511.3(APC):c.-109C>T

SNV
Germline

Chr5:112707609

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
not specified

Criteria Provided
Conflicting Classifications

CA802057182

rs_761634030

2 SubmittersRCV004564824 RCV003493893

NM_001128425.2(MUTYH):c.182G>T (p.Cys61Phe)

SNV
Germline

Chr1:45333579

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340136781

rs_1372337348

2 SubmittersRCV001988288 RCV002407235

NM_000038.6(APC):c.3445G>T (p.Glu1149Ter)

SNV
Germline

Chr5:112839039

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16028885

rs_371117193

1 SubmittersRCV003772759

NM_000038.6(APC):c.4438C>T (p.Gln1480Ter)

SNV
Germline

Chr5:112840032

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16031048

rs_2149914756

2 SubmittersRCV004564898

NM_000038.6(APC):c.457A>T (p.Lys153Ter)

SNV
Germline

Chr5:112775663

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16022319

rs_1561477861

3 SubmittersRCV002334972 RCV003772949

NC_000005.10:g.112707386G>A

SNV
Germline

Chr5:112707386

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
not specified

Criteria Provided
Conflicting Classifications

CA2573138747

rs_1351477360

2 SubmittersRCV003773025 RCV005232747

NM_000038.6(APC):c.531+4A>G

SNV
Germline

Chr5:112775741

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA2573138631

rs_2149616393

1 SubmittersRCV003773029

NM_000038.6(APC):c.1959-1G>C

SNV
Germline

Chr5:112837552

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360714773

rs_863225321

2 SubmittersRCV003336504

NM_000038.6(APC):c.933+2T>A

SNV
Germline

Chr5:112815595

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360619056

rs_1057517559

2 SubmittersRCV003336493

NM_000038.6(APC):c.2083C>T (p.Gln695Ter)

SNV
Germline

Chr5:112837677

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16025879

rs_1439772141

2 SubmittersRCV004565135

NM_002528.7(NTHL1):c.11T>A (p.Leu4Ter)

SNV
Germline

Chr16:2047813

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA394298671

rs_1413587495

3 SubmittersRCV001909047 RCV003458235 RCV004945782

NM_000038.6(APC):c.1801G>T (p.Glu601Ter)

SNV
Germline

Chr5:112835008

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16025260

rs_2149841665

1 SubmittersRCV004564775

NM_002528.7(NTHL1):c.256C>T (p.Gln86Ter)

SNV
Germline

Chr16:2046226

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA394297097

rs_2084372140

4 SubmittersRCV001903865 RCV002441011 RCV003458236

NM_000038.6(APC):c.1652T>A (p.Leu551Ter)

SNV
Germline

Chr5:112828881

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16024918

rs_2149817124

1 SubmittersRCV003772956

NM_000038.6(APC):c.933+809T>G

SNV
Germline

Chr5:112816402

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA2573138816

rs_2149767732

1 SubmittersRCV004571910

NM_002439.5(MSH3):c.2319-1G>C

SNV
Germline

Chr5:80778719

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360281696

rs_866260675

2 SubmittersRCV001959088 RCV003458804

NM_000038.6(APC):c.2560A>G (p.Arg854Gly)

SNV
Germline

Chr5:112838154

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16026942

rs_1468020473

2 SubmittersRCV004564816 RCV005374889

NM_000038.6(APC):c.7715C>A (p.Ser2572Ter)

SNV
Germline

Chr5:112843309

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16038089

rs_876659280

1 SubmittersRCV002557789

NM_000038.6(APC):c.4691T>G (p.Leu1564Ter)

SNV
Germline

Chr5:112840285

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16031616

rs_2149921292

2 SubmittersRCV004564810

NM_002528.7(NTHL1):c.526-1G>T

SNV
Germline

Chr16:2043727

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA394292667

rs_779757251

2 SubmittersRCV001895351 RCV003458232

NM_002439.5(MSH3):c.2227C>T (p.Gln743Ter)

SNV
Germline

Chr5:80768977

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360279722

rs_1350652736

3 SubmittersRCV001938096 RCV002425231 RCV003458791

NM_000038.6(APC):c.386A>T (p.Glu129Val)

SNV
Germline

Chr5:112767354

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16022162

rs_759662717

2 SubmittersRCV002361327 RCV002569329

NM_000038.6(APC):c.6920C>A (p.Ser2307Ter)

SNV
Germline

Chr5:112842514

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16036427

rs_901983934

1 SubmittersRCV004571436

NM_000038.6(APC):c.5644A>T (p.Arg1882Ter)

SNV
Germline

Chr5:112841238

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16033686

rs_2149945442

1 SubmittersRCV003772471

NM_000038.6(APC):c.4463T>G (p.Leu1488Ter)

SNV
Germline

Chr5:112840057

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16031099

rs_786202324

2 SubmittersRCV002553451

NM_001048174.2(MUTYH):c.850-13C>A

SNV
Germline

Chr1:45332099

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA2573132055

rs_2149135348

2 SubmittersRCV002192639

NM_001048174.2(MUTYH):c.1263C>T (p.Ile421=)

SNV
Germline

Chr1:45331311

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA417702123

rs_2149114379

2 SubmittersRCV002196330 RCV005375063

NM_000038.6(APC):c.1338C>A (p.Ile446=)

SNV
Germline

Chr5:112821921

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA027198

rs_759703047

4 SubmittersRCV002382452 RCV003774070

NM_002439.5(MSH3):c.2319-11C>T

SNV
Germline

Chr5:80778709

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA3328220

rs_376345436

3 SubmittersRCV002105261 RCV002256919 RCV005361961

NM_001048174.2(MUTYH):c.801A>T (p.Pro267=)

SNV
Germline

Chr1:45332214

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA059502

rs_750136965

4 SubmittersRCV002158470 RCV002373011

NM_000038.6(APC):c.3441C>G (p.Tyr1147Ter)

SNV
Germline

Chr5:112839035

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16028877

rs_2149891970

3 SubmittersRCV004565247 RCV005382400

NM_000038.6(APC):c.412G>T (p.Glu138Ter)

SNV
Germline

Chr5:112767380

Pathogenic

Colorectal cancer
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16022222

rs_1756477033

2 SubmittersRCV002249248 RCV004565249

NM_000038.6(APC):c.1313-11T>G

SNV
Germline

Chr5:112821885

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA2573138832

rs_2149791679

2 SubmittersRCV002255843 RCV004565252

NM_000038.6(APC):c.8085A>G (p.Lys2695=)

SNV
Germline

Chr5:112843679

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA446211062

rs_2149998986

2 SubmittersRCV002257197 RCV004591854

NM_001048174.2(MUTYH):c.1341G>A (p.Trp447Ter)

SNV
Germline

Chr1:45331233

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340132610

rs_2149112121

2 SubmittersRCV002255943 RCV003101417

NM_001048174.2(MUTYH):c.384G>A (p.Trp128Ter)

SNV
Germline

Chr1:45332954

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340136014

rs_2149161607

5 SubmittersRCV002255945 RCV003464415

NM_000038.6(APC):c.21T>C (p.Asp7=)

SNV
Germline

Chr5:112754911

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445752306

rs_2149737434

4 SubmittersRCV002257274 RCV004047402

NM_002439.5(MSH3):c.1736G>A (p.Trp579Ter)

SNV
Germline

Chr5:80744588

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA360274795

rs_2112868963

5 SubmittersRCV002257300 RCV003101423 RCV003458853 RCV003464416

NM_000038.6(APC):c.6514G>T (p.Glu2172Ter)

SNV
Germline

Chr5:112842108

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16035580

rs_864622314

2 SubmittersRCV002268811 RCV003337393

NM_001048174.2(MUTYH):c.169C>G (p.His57Asp)

SNV
Germline

Chr1:45333508

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340136519

rs_1645370714

1 SubmittersRCV002280919

NM_002439.5(MSH3):c.763A>T (p.Lys255Ter)

SNV
Germline

Chr5:80670280

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 4
Condition: not provided
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA360266969

rs_2546721227

4 SubmittersRCV002288387 RCV003546755 RCV005032230

NM_000038.6(APC):c.3715A>C (p.Arg1239=)

SNV
Germline

Chr5:112839309

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445963949

rs_781075182

2 SubmittersRCV002293658 RCV004565259

NM_001128425.2(MUTYH):c.33G>A (p.Leu11=)

SNV
Germline

Chr1:45340222

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA417702307

rs_1311829327

2 SubmittersRCV002452049 RCV003505212

NM_000038.6(APC):c.3566C>A (p.Ser1189Ter)

SNV
Germline

Chr5:112839160

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029166

rs_1765458794

3 SubmittersRCV002454952 RCV004565269

NM_001048174.2(MUTYH):c.323T>C (p.Met108Thr)

SNV
Germline

Chr1:45333152

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA057759

rs_770153763

3 SubmittersRCV002323111 RCV005096475

NM_000038.6(APC):c.423-3958C>T

SNV
Germline

Chr5:112771671

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2580072424

rs_2532360512

2 SubmittersRCV005096517 RCV002328138

NM_000038.6(APC):c.425C>A (p.Ser142Ter)

SNV
Germline

Chr5:112775631

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16022252

rs_2149614389

2 SubmittersRCV002329923 RCV004565280

NM_000038.6(APC):c.3856G>T (p.Glu1286Ter)

SNV
Germline/somatic

Chr5:112839450

Pathogenic

Familial adenomatous polyposis 1
Neoplasm
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16029793

rs_2533529597

3 SubmittersRCV004565273 RCV005232953 RCV002355514

NM_000038.6(APC):c.3460G>T (p.Glu1154Ter)

SNV
Germline

Chr5:112839054

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16028925

rs_2149892395

2 SubmittersRCV002460223 RCV004565268

NM_000038.6(APC):c.3822T>A (p.Cys1274Ter)

SNV
Germline

Chr5:112839416

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029717

rs_1554085326

2 SubmittersRCV002355344 RCV005096407

NM_001128425.2(MUTYH):c.36+2T>C

SNV
Germline

Chr1:45340217

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA340137819

rs_2149248633

3 SubmittersRCV002455202 RCV004005636

NM_001048174.2(MUTYH):c.379-2A>G

SNV
Germline

Chr1:45332961

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA340136046

rs_2149161840

2 SubmittersRCV002342570 RCV003096388

NM_000038.6(APC):c.4854A>C (p.Leu1618=)

SNV
Germline

Chr5:112840448

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA446208090

rs_377666490

3 SubmittersRCV002340298 RCV004005677 RCV004565294

NM_000038.6(APC):c.5093A>T (p.Asp1698Val)

SNV
Germline

Chr5:112840687

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16032466

rs_1765845000

3 SubmittersRCV002335948 RCV003476960 RCV004572299

NM_000038.6(APC):c.5939A>G (p.Asn1980Ser)

SNV
Germline

Chr5:112841533

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA043463

rs_180727920

4 SubmittersRCV002355908 RCV003098070

NM_001048174.2(MUTYH):c.420+5G>A

SNV
Germline

Chr1:45332913

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA2580063138

rs_1325104263

2 SubmittersRCV002351419 RCV003776020

NM_001048174.2(MUTYH):c.1121G>A (p.Trp374Ter)

SNV
Germline

Chr1:45331538

Pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA21836075

rs_892204813

4 SubmittersRCV003096813 RCV002345006

NM_000038.6(APC):c.645+1G>C

SNV
Germline

Chr5:112780904

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360617498

rs_863225370

4 SubmittersRCV002361846 RCV004697219 RCV004565318

NM_000038.6(APC):c.673G>T (p.Glu225Ter)

SNV
Germline

Chr5:112792473

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16022807

rs_768233232

2 SubmittersRCV002377942 RCV004565321

NM_001048174.2(MUTYH):c.493-3C>G

SNV
Germline

Chr1:45332690

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2580063121

rs_2149153407

2 SubmittersRCV003505234 RCV002359669

NM_002439.5(MSH3):c.638T>G (p.Leu213Ter)

SNV
Germline

Chr5:80670155

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360266537

rs_2546721087

4 SubmittersRCV002361514 RCV003458859 RCV004572326 RCV003776251

NM_001048174.2(MUTYH):c.936C>G (p.His312Gln)

SNV
Germline

Chr1:45331827

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA340133862

rs_1644931388

2 SubmittersRCV002382640 RCV003614132

NM_000038.6(APC):c.790C>T (p.Gln264Ter)

SNV
Germline

Chr5:112801339

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
APC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16023060

rs_1434813233

4 SubmittersRCV002416678 RCV004565333 RCV003973390

NM_001048174.2(MUTYH):c.41A>G (p.Lys14Arg)

SNV
Germline

Chr1:45334465

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA340137163

rs_1553131499

2 SubmittersRCV002434893 RCV005097230

NM_001048174.2(MUTYH):c.40A>T (p.Lys14Ter)

SNV
Germline

Chr1:45334466

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340137165

rs_2524361370

2 SubmittersRCV002430325 RCV005097213

NM_002528.7(NTHL1):c.792-1G>A

SNV
Germline

Chr16:2040048

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 3

Criteria Provided
Conflicting Classifications

CA394287665

rs_2150937988

3 SubmittersRCV002421437 RCV003669292 RCV003471361

NM_000038.6(APC):c.948T>A (p.Tyr316Ter)

SNV
Germline

Chr5:112818980

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16023384

rs_748010172

2 SubmittersRCV002374091 RCV004565340

NM_000038.6(APC):c.6672C>A (p.Ile2224=)

SNV
Germline

Chr5:112842266

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA446209902

rs_1766272355

3 SubmittersRCV002366969 RCV003476970 RCV004565320

NM_002439.5(MSH3):c.1235C>G (p.Ser412Ter)

SNV
Germline

Chr5:80678988

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360268945

rs_2546726592

2 SubmittersRCV002364794 RCV005248653

NM_000038.6(APC):c.1248C>A (p.Tyr416Ter)

SNV
Germline

Chr5:112819280

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16024031

rs_2149783185

3 SubmittersRCV002396359 RCV003103423

NM_000038.6(APC):c.933G>A (p.Lys311=)

SNV
Germline

Chr5:112815593

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445755737

rs_1762431806

3 SubmittersRCV002371670 RCV004572397

NM_000038.6(APC):c.1743+1G>C

SNV
Germline

Chr5:112828973

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360620720

rs_761458613

3 SubmittersRCV002401429 RCV004565350

NM_000038.6(APC):c.1743+2T>A

SNV
Germline

Chr5:112828974

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360620723

rs_2149818637

3 SubmittersRCV002401430 RCV003774484

NM_002439.5(MSH3):c.1489A>T (p.Lys497Ter)

SNV
Germline

Chr5:80728886

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360274213

rs_777360391

3 SubmittersRCV002389648 RCV005097547 RCV005424907

NM_002439.5(MSH3):c.1568+1G>C

SNV
Germline

Chr5:80728966

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360274394

rs_1580589463

3 SubmittersRCV002405562 RCV003458861 RCV003774388

NM_000038.6(APC):c.1579A>T (p.Arg527Ter)

SNV
Germline

Chr5:112827959

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16024758

rs_751120046

3 SubmittersRCV002405750 RCV004565346

NM_001048174.2(MUTYH):c.1239+1G>A

SNV
Germline

Chr1:45331419

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340132821

rs_1644818073

2 SubmittersRCV002385722 RCV003120990

NM_001048174.2(MUTYH):c.1302G>A (p.Gly434=)

SNV
Germline

Chr1:45331272

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA417702098

rs_2149113333

2 SubmittersRCV002396547 RCV003505256

NM_000038.6(APC):c.1626+4C>T

SNV
Germline

Chr5:112828010

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA1573507253

rs_1202435147

2 SubmittersRCV002401147 RCV004565347

NM_000038.6(APC):c.1627-2A>T

SNV
Germline

Chr5:112828854

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360620461

rs_1580573837

2 SubmittersRCV002401171 RCV004565348

NM_001048174.2(MUTYH):c.1550A>G (p.Asn517Ser)

SNV
Germline

Chr1:45329322

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA340131515

rs_2149087436

2 SubmittersRCV002401338 RCV003097039

NM_000038.6(APC):c.2161G>T (p.Gly721Ter)

SNV
Germline

Chr5:112837755

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16026065

rs_2149862031

2 SubmittersRCV002417906 RCV004565356

NM_000038.6(APC):c.2381G>A (p.Ser794Asn)

SNV
Germline

Chr5:112837975

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16026564

rs_1278540627

2 SubmittersRCV002457906 RCV005098110

NM_000038.6(APC):c.2397T>A (p.Tyr799Ter)

SNV
Germline

Chr5:112837991

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16026599

rs_1765170817

2 SubmittersRCV002459624 RCV004565362

NM_000038.6(APC):c.1958+1G>T

SNV
Germline

Chr5:112835166

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360623923

rs_1114167569

3 SubmittersRCV002421649 RCV003100959

NM_000038.6(APC):c.1958+2T>A

SNV
Germline

Chr5:112835167

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360623929

rs_2149844646

2 SubmittersRCV002421650 RCV004565354

NM_000038.6(APC):c.2240C>A (p.Ser747Ter)

SNV
Germline

Chr5:112837834

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16026240

rs_773020689

2 SubmittersRCV002428366 RCV003336730

NM_000038.6(APC):c.2468C>G (p.Ser823Ter)

SNV
Germline

Chr5:112838062

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16026751

rs_1580622630

2 SubmittersRCV002430763 RCV004565363

NM_000038.6(APC):c.2212A>T (p.Lys738Ter)

SNV
Germline/somatic

Chr5:112837806

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16026179

rs_2149863411

3 SubmittersRCV002425880 RCV003337408 RCV004673674

NM_002439.5(MSH3):c.2318+2T>C

SNV
Germline

Chr5:80775760

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA360281053

rs_2546777907

2 SubmittersRCV002448071 RCV005248764

NM_000038.6(APC):c.2791C>T (p.His931Tyr)

SNV
Germline

Chr5:112838385

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16027418

rs_1169039793

3 SubmittersRCV002441428 RCV005098287

NM_000038.6(APC):c.2794T>G (p.Ser932Ala)

SNV
Germline

Chr5:112838388

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA033464

rs_778206304

3 SubmittersRCV002441457 RCV003775376 RCV004808346

NM_000038.6(APC):c.2932C>T (p.Gln978Ter)

SNV
Germline

Chr5:112838526

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16027736

rs_1765298309

2 SubmittersRCV002440084 RCV003336753

NM_002439.5(MSH3):c.2838T>A (p.Tyr946Ter)

SNV
Germline

Chr5:80854154

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360275506

rs_2478771486

2 SubmittersRCV002435207 RCV003336749

NM_000038.6(APC):c.2861T>G (p.Leu954Ter)

SNV
Germline

Chr5:112838455

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16027571

rs_2149878966

2 SubmittersRCV002437596 RCV004571158

NM_000038.6(APC):c.1612G>T (p.Glu538Ter)

SNV
Germline

Chr5:112827992

Pathogenic

Familial adenomatous polyposis 1
Gastric cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16024826

rs_2149813944

3 SubmittersRCV003337414 RCV003164556 RCV004067537

NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)

SNV
Germline

Chr1:45333167

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Gastric cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA340136214

rs_1300812494

5 SubmittersRCV003103161 RCV003164711 RCV004946008

NM_000038.6(APC):c.778C>T (p.Gln260Ter)

SNV
Germline

Chr5:112801327

Pathogenic/Likely pathogenic

Familial multiple polyposis syndrome
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16023031

rs_2149711923

3 SubmittersRCV002470038 RCV004565610 RCV004067583

NM_001048174.2(MUTYH):c.1539A>G (p.Ala513=)

SNV
Germline

Chr1:45329333

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA417701979

rs_2523730908

3 SubmittersRCV002481147 RCV003614198 RCV005403221

NM_000038.6(APC):c.4199C>A (p.Ser1400Ter)

SNV
Germline

Chr5:112839793

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16030535

rs_267600319

2 SubmittersRCV004565666

NM_000038.6(APC):c.7570A>T (p.Lys2524Ter)

SNV
Germline

Chr5:112843164

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16037783

rs_143060722

3 SubmittersRCV003274199 RCV003068732

NM_002439.5(MSH3):c.2248C>T (p.Gln750Ter)

SNV
Germline

Chr5:80768998

Pathogenic

Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360279800

rs_2546774337

2 SubmittersRCV003085679 RCV003458894

NM_001127511.3(APC):c.-35G>A

SNV
Germline

Chr5:112707683

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA1080214990

rs_1199369770

2 SubmittersRCV003493977 RCV004565681

NM_002439.5(MSH3):c.47C>G (p.Ser16Ter)

SNV
Germline

Chr5:80654774

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA121287684

rs_944680882

3 SubmittersRCV003091448 RCV003458896 RCV003367986

NM_002528.7(NTHL1):c.521G>A (p.Trp174Ter)

SNV
Germline

Chr16:2044634

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394294080

rs_1192158230

5 SubmittersRCV003084905 RCV003459748 RCV005377278

NM_000038.6(APC):c.1033A>G (p.Ile345Val)

SNV
Germline

Chr5:112819065

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA026653

rs_767126766

4 SubmittersRCV003585358 RCV004565711

NM_002439.5(MSH3):c.2367C>G (p.Tyr789Ter)

SNV
Germline

Chr5:80778768

Pathogenic

Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360281798

rs_965659126

2 SubmittersRCV002636546 RCV003458901

NM_002528.7(NTHL1):c.800G>A (p.Trp267Ter)

SNV
Germline

Chr16:2040039

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA394287589

rs_1176002553

3 SubmittersRCV002647527 RCV004572802

NM_000038.6(APC):c.399T>G (p.Tyr133Ter)

SNV
Germline

Chr5:112767367

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16022190

rs_2149789815

2 SubmittersRCV002640740

NM_000038.6(APC):c.422+1G>A

SNV
Germline

Chr5:112767391

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360617473

rs_1756480727

2 SubmittersRCV002640741

NM_000038.6(APC):c.423-1G>T

SNV
Germline

Chr5:112775628

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360617486

rs_397514031

2 SubmittersRCV003477054 RCV004565730

NM_000038.6(APC):c.646-2A>C

SNV
Germline

Chr5:112792444

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360617503

rs_777848503

4 SubmittersRCV004072141 RCV004565731

NM_000038.6(APC):c.2432C>G (p.Ser811Ter)

SNV
Germline

Chr5:112838026

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16026676

rs_2149869230

1 SubmittersRCV004565735

NM_000038.6(APC):c.2522T>G (p.Leu841Ter)

SNV
Germline

Chr5:112838116

Pathogenic

Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16026857

rs_2149871600

2 SubmittersRCV004808437 RCV004565736

NM_000038.6(APC):c.3463G>T (p.Glu1155Ter)

SNV
Germline

Chr5:112839057

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16028932

rs_774847322

1 SubmittersRCV004565738

NM_001048174.2(MUTYH):c.208G>A (p.Gly70Arg)

SNV
Germline

Chr1:45333469

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340136441

rs_1570443086

2 SubmittersRCV002598501 RCV003167477

NM_002439.5(MSH3):c.3046G>T (p.Glu1016Ter)

SNV
Germline

Chr5:80864858

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360346206

rs_2478789143

3 SubmittersRCV002643072 RCV003167579 RCV004790231

NM_001048174.2(MUTYH):c.1327C>G (p.Pro443Ala)

SNV
Germline

Chr1:45331247

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340132631

rs_864622204

2 SubmittersRCV002740107 RCV003167671

NM_000038.6(APC):c.721G>T (p.Glu241Ter)

SNV
Germline

Chr5:112792521

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16022907

rs_777603154

2 SubmittersRCV004571263

NM_000038.6(APC):c.4396G>T (p.Gly1466Ter)

SNV
Germline

Chr5:112839990

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16030960

rs_1765672840

1 SubmittersRCV004571284

NM_000038.6(APC):c.136-2A>T

SNV
Germline

Chr5:112766324

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA360617461

rs_886039625

1 SubmittersRCV004571363

NM_000038.6(APC):c.4561G>T (p.Glu1521Ter)

SNV
Germline

Chr5:112840155

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16031317

rs_2149917594

1 SubmittersRCV004571328

NM_002528.7(NTHL1):c.666G>A (p.Trp222Ter)

SNV
Germline

Chr16:2043586

Pathogenic

Condition: not provided
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA7828181

rs_765168342

2 SubmittersRCV002866065 RCV003458247

NM_000038.6(APC):c.1744-2A>C

SNV
Germline

Chr5:112834949

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA360622292

rs_587783035

1 SubmittersRCV004571371

NM_000038.6(APC):c.1627-3C>A

SNV
Germline

Chr5:112828853

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2580072444

rs_1554082079

2 SubmittersRCV004571792 RCV003167860

NM_000038.6(APC):c.5110A>T (p.Lys1704Ter)

SNV
Germline

Chr5:112840704

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16032501

rs_2149932254

1 SubmittersRCV004571800

NM_000038.6(APC):c.5020G>T (p.Gly1674Ter)

SNV
Germline

Chr5:112840614

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16032316

rs_899555020

1 SubmittersRCV004571802

NM_002528.7(NTHL1):c.116-2A>C

SNV
Germline

Chr16:2046368

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA394298127

rs_1411270811

2 SubmittersRCV002929054 RCV003458250

NM_000038.6(APC):c.7882C>T (p.Gln2628Ter)

SNV
Germline

Chr5:112843476

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16038457

rs_1561619003

3 SubmittersRCV002971054 RCV003585321

NM_000038.6(APC):c.3915A>G (p.Ala1305=)

SNV
Germline

Chr5:112839509

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA445963871

rs_2149901988

3 SubmittersRCV004068307 RCV004007731

NM_002439.5(MSH3):c.1765G>T (p.Glu589Ter)

SNV
Germline

Chr5:80761547

Pathogenic

Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3328040

rs_766156923

2 SubmittersRCV003009798 RCV003458888

NM_000038.6(APC):c.730-14C>G

SNV
Germline

Chr5:112801265

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA2580072498

rs_2149711192

2 SubmittersRCV003320906 RCV004572495

NM_002439.5(MSH3):c.359-2A>G

SNV
Germline

Chr5:80665141

Likely pathogenic

Familial adenomatous polyposis 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360262877

rs_1457778017

2 SubmittersRCV003458889 RCV003018373

NM_000038.6(APC):c.4879C>T (p.Gln1627Ter)

SNV
Germline

Chr5:112840473

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16032022

rs_1554086263

2 SubmittersRCV004565654

NM_001048174.2(MUTYH):c.421-1G>A

SNV
Germline

Chr1:45332835

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340135872

rs_2149158986

1 SubmittersRCV003033736

NM_000038.6(APC):c.1079T>A (p.Leu360Ter)

SNV
Germline

Chr5:112819111

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16023670

rs_2149780840

1 SubmittersRCV004572546

NM_001048174.2(MUTYH):c.-6-2A>T

SNV
Germline

Chr1:45334513

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340137351

rs_1383826978

1 SubmittersRCV002991644

NM_000038.6(APC):c.3883G>T (p.Glu1295Ter)

SNV
Germline

Chr5:112839477

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16029854

rs_2149901204

1 SubmittersRCV004572568

NM_000038.6(APC):c.31A>T (p.Lys11Ter)

SNV
Germline

Chr5:112754921

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16021405

rs_2149737581

1 SubmittersRCV004572569

NM_002439.5(MSH3):c.3302+2T>A

SNV
Germline

Chr5:80873289

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA360347230

rs_1269791493

3 SubmittersRCV003031402 RCV003458890 RCV004946146

NM_001048174.2(MUTYH):c.91C>T (p.Gln31Ter)

SNV
Germline

Chr1:45334415

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340137008

rs_2524353808

2 SubmittersRCV003049772

NM_001128425.2(MUTYH):c.180G>A (p.Glu60=)

SNV
Germline

Chr1:45333581

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA417702218

rs_2524289383

2 SubmittersRCV003052015

NM_001048174.2(MUTYH):c.304+1G>A

SNV
Germline

Chr1:45333284

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340136225

rs_2524243658

1 SubmittersRCV003027746

NM_000038.6(APC):c.531+1482A>G

SNV
Germline/somatic

Chr5:112777219

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA2580072323

rs_2532437222

3 SubmittersRCV004572637 RCV004673774

NM_001048174.2(MUTYH):c.1466G>A (p.Cys489Tyr)

SNV
Germline

Chr1:45329406

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA056916

rs_779256175

3 SubmittersRCV003039654 RCV005382532

NM_000038.6(APC):c.891A>G (p.Thr297=)

SNV
Germline

Chr5:112815551

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA445755703

rs_2149763411

3 SubmittersRCV004565661 RCV004999852

NM_000038.6(APC):c.220+1G>T

SNV
Germline

Chr5:112766411

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA360617467

rs_1554069570

1 SubmittersRCV004572679

NM_000038.6(APC):c.1409-5A>C

SNV
Germline

Chr5:112827103

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA027662

rs_768109346

3 SubmittersRCV004654106 RCV004565663

NM_000038.6(APC):c.5953G>T (p.Glu1985Ter)

SNV
Germline

Chr5:112841547

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16034365

rs_1561604028

1 SubmittersRCV004572710

NM_000038.6(APC):c.601G>T (p.Glu201Ter)

SNV
Germline

Chr5:112780859

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16022652

rs_2149640280

1 SubmittersRCV004572717

NM_002439.5(MSH3):c.2893A>T (p.Lys965Ter)

SNV
Germline

Chr5:80854209

Pathogenic

Familial adenomatous polyposis 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360275634

rs_2478771709

2 SubmittersRCV003140372 RCV003575037

NM_002528.7(NTHL1):c.199A>T (p.Lys67Ter)

SNV
Unknown

Chr16:2046283

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA394297617

rs_2548320872

2 SubmittersRCV003140374

NM_000038.6(APC):c.1743+2T>C

SNV
Germline

Chr5:112828974

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360620724

rs_2149818637

4 SubmittersRCV003165107 RCV004779495 RCV004565809

NM_000038.6(APC):c.5155G>T (p.Glu1719Ter)

SNV
Germline

Chr5:112840749

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16032599

rs_2149933395

2 SubmittersRCV003165109 RCV004565810

NM_001048174.2(MUTYH):c.304+2T>C

SNV
Germline

Chr1:45333283

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340136223

rs_2524243548

2 SubmittersRCV003182814 RCV003459799

NM_002439.5(MSH3):c.1395C>G (p.Tyr465Ter)

SNV
Germline

Chr5:80725507

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360273499

rs_1419188316

3 SubmittersRCV003689051 RCV003182079 RCV003458912

NM_000038.6(APC):c.646C>A (p.Arg216=)

SNV
Germline

Chr5:112792446

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445755545

rs_62619935

2 SubmittersRCV003177455 RCV005101141

NM_000038.6(APC):c.1744-1G>A

SNV
Germline

Chr5:112834950

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360622294

rs_976449430

2 SubmittersRCV003177510 RCV004565819

NM_000038.6(APC):c.4222G>T (p.Glu1408Ter)

SNV
Somatic

Chr5:112839816

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16030581

rs_1554085632

3 SubmittersRCV003228785 RCV005230471

NM_000038.6(APC):c.268A>T (p.Lys90Ter)

SNV
Germline

Chr5:112767236

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16021923

rs_763184444

3 SubmittersRCV003300879 RCV003336838

NM_002439.5(MSH3):c.2763T>A (p.Tyr921Ter)

SNV
Germline

Chr5:80813691

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360274025

rs_1174006665

2 SubmittersRCV003301989 RCV003458920

NM_000038.6(APC):c.1567A>T (p.Lys523Ter)

SNV
Unknown

Chr5:112827947

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16024731

rs_1763872744

1 SubmittersRCV004566071

NM_000038.6(APC):c.135+1G>A

SNV
Germline

Chr5:112755026

Likely pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA027242

rs_750508765

3 SubmittersRCV004566072 RCV004333282

NM_000038.6(APC):c.4120G>T (p.Glu1374Ter)

SNV
Germline

Chr5:112839714

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16030354

rs_876659156

2 SubmittersRCV003337426 RCV003325645

NM_000038.6(APC):c.7355T>G (p.Leu2452Ter)

SNV
Unknown

Chr5:112842949

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16037349

rs_2533786957

1 SubmittersRCV003337427

NM_000038.6(APC):c.3502G>T (p.Glu1168Ter)

SNV
Unknown

Chr5:112839096

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16029024

rs_2149893243

1 SubmittersRCV004566085

NM_000038.6(APC):c.3055G>T (p.Gly1019Ter)

SNV
Unknown

Chr5:112838649

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16028025

rs_1765326033

1 SubmittersRCV003337431

NM_000038.6(APC):c.7692G>A (p.Trp2564Ter)

SNV
Unknown

Chr5:112843286

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16038037

rs_1766542279

1 SubmittersRCV003337432

NM_000038.6(APC):c.4128T>G (p.Tyr1376Ter)

SNV
Unknown

Chr5:112839722

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16030373

rs_1554085539

1 SubmittersRCV003337433

NM_000038.6(APC):c.3469G>T (p.Glu1157Ter)

SNV
Unknown

Chr5:112839063

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16028948

rs_1554085038

1 SubmittersRCV003337434

NM_000038.6(APC):c.5083A>T (p.Arg1695Ter)

SNV
Unknown

Chr5:112840677

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16032443

rs_555019540

1 SubmittersRCV004566091

NM_000038.6(APC):c.2507C>G (p.Ser836Ter)

SNV
Unknown

Chr5:112838101

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16026827

rs_1580623270

1 SubmittersRCV003337439

NM_000038.6(APC):c.2869A>T (p.Lys957Ter)

SNV
Unknown

Chr5:112838463

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16027591

rs_2149879138

1 SubmittersRCV003336949

NM_000038.6(APC):c.6215T>G (p.Leu2072Ter)

SNV
Unknown

Chr5:112841809

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16034945

rs_2533698639

1 SubmittersRCV004566107

NM_000038.6(APC):c.7765G>T (p.Glu2589Ter)

SNV
Unknown

Chr5:112843359

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16038199

rs_2533817849

1 SubmittersRCV004566114

NM_000038.6(APC):c.7336G>T (p.Glu2446Ter)

SNV
Unknown

Chr5:112842930

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16037309

rs_2149984801

1 SubmittersRCV004566122

NM_000038.6(APC):c.2362A>T (p.Lys788Ter)

SNV
Unknown

Chr5:112837956

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16026517

rs_1765163287

1 SubmittersRCV004566123

NM_000038.6(APC):c.4691T>A (p.Leu1564Ter)

SNV
Unknown

Chr5:112840285

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16031614

rs_2149921292

1 SubmittersRCV003337459

NM_000038.6(APC):c.7733C>G (p.Ser2578Ter)

SNV
Unknown

Chr5:112843327

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16038124

rs_2149992847

1 SubmittersRCV003337469

NM_000038.6(APC):c.6437C>A (p.Ser2146Ter)

SNV
Unknown

Chr5:112842031

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16035416

rs_2149964888

1 SubmittersRCV004566143

NM_000038.6(APC):c.6287C>A (p.Ser2096Ter)

SNV
Unknown

Chr5:112841881

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16035095

rs_1561606344

1 SubmittersRCV004566150

NM_002439.5(MSH3):c.307A>T (p.Lys103Ter)

SNV
Unknown

Chr5:80656480

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360266355

rs_759128700

1 SubmittersRCV003334480

NM_000038.6(APC):c.3095C>G (p.Ser1032Ter)

SNV
Germline

Chr5:112838689

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16028113

rs_2149884210

2 SubmittersRCV004566185

NM_000038.6(APC):c.4552A>T (p.Lys1518Ter)

SNV
Unknown

Chr5:112840146

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16031295

rs_1554085958

1 SubmittersRCV004566191

NM_000038.6(APC):c.1408+731C>T

SNV
Germline

Chr5:112822722

Likely pathogenic

Familial adenomatous polyposis 1
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA658760618

rs_2533124596

2 SubmittersRCV004566203 RCV005399334

NM_002439.5(MSH3):c.2554C>T (p.Gln852Ter)

SNV
Unknown

Chr5:80792743

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360272845

rs_2546786711

1 SubmittersRCV003334724

NM_000038.6(APC):c.4845C>G (p.Tyr1615Ter)

SNV
Unknown

Chr5:112840439

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16031946

rs_2533603450

1 SubmittersRCV004566209

NM_000038.6(APC):c.1312+3A>T

SNV
Germline

Chr5:112819347

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2582341288

rs_863225311

2 SubmittersRCV004334136 RCV004566211

NM_000038.6(APC):c.1436T>A (p.Leu479Ter)

SNV
Unknown

Chr5:112827135

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16024447

rs_1763763568

1 SubmittersRCV004566213

NM_000038.6(APC):c.193C>T (p.Gln65Ter)

SNV
Unknown

Chr5:112766383

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16021764

rs_863225320

1 SubmittersRCV003334798

NM_000038.6(APC):c.1269G>A (p.Trp423Ter)

SNV
Germline

Chr5:112819301

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16024082

rs_2149783521

4 SubmittersRCV004566217 RCV004943021 RCV005429440

NM_000038.6(APC):c.1411G>T (p.Gly471Ter)

SNV
Unknown

Chr5:112827110

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16024399

rs_1554081633

1 SubmittersRCV004566218

NM_000038.6(APC):c.834+2T>C

SNV
Unknown

Chr5:112801385

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA360618295

rs_2149712622

1 SubmittersRCV004566219

NM_000038.6(APC):c.7709C>A (p.Ser2570Ter)

SNV
Germline

Chr5:112843303

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16038077

rs_1561617778

2 SubmittersRCV004566220 RCV004943022

NM_000038.6(APC):c.2063C>G (p.Ser688Ter)

SNV
Unknown

Chr5:112837657

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16025834

rs_1554083930

1 SubmittersRCV004566221

NM_000038.6(APC):c.2055G>A (p.Trp685Ter)

SNV
Unknown

Chr5:112837649

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16025814

rs_2149859582

1 SubmittersRCV004566222

NM_000038.6(APC):c.1192A>T (p.Lys398Ter)

SNV
Unknown

Chr5:112819224

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16023916

rs_765196085

1 SubmittersRCV003337539

NM_000038.6(APC):c.1438C>T (p.Gln480Ter)

SNV
Germline

Chr5:112827137

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16024453

rs_570514864

2 SubmittersRCV005435117 RCV004566223

NM_000038.6(APC):c.394G>T (p.Gly132Ter)

SNV
Unknown

Chr5:112767362

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16022180

rs_1580329638

1 SubmittersRCV003334827

NM_000038.6(APC):c.298G>T (p.Glu100Ter)

SNV
Unknown

Chr5:112767266

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16021980

rs_1561464319

1 SubmittersRCV003334829

NM_000038.6(APC):c.4729G>T (p.Glu1577Ter)

SNV
Unknown

Chr5:112840323

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16031704

rs_1356068619

1 SubmittersRCV003334831

NM_000038.6(APC):c.5570C>G (p.Ser1857Ter)

SNV
Unknown

Chr5:112841164

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16033522

rs_1561601114

1 SubmittersRCV003334834

NM_000038.6(APC):c.531+1G>T

SNV
Germline

Chr5:112775738

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360617488

rs_876659973

3 SubmittersRCV004566236 RCV004999918

NM_000038.6(APC):c.1129A>T (p.Lys377Ter)

SNV
Unknown

Chr5:112819161

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16023780

rs_2149781488

1 SubmittersRCV004566237

NM_000038.6(APC):c.2468C>A (p.Ser823Ter)

SNV
Unknown

Chr5:112838062

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16026750

rs_1580622630

1 SubmittersRCV003337557

NM_000038.6(APC):c.3429T>A (p.Tyr1143Ter)

SNV
Germline

Chr5:112839023

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16028848

rs_1554084999

2 SubmittersRCV003585383 RCV004566250

NM_000038.6(APC):c.2563G>T (p.Glu855Ter)

SNV
Germline

Chr5:112838157

Pathogenic

Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16026951

rs_1320581229

3 SubmittersRCV003334867 RCV004701042

NM_000038.6(APC):c.3610C>T (p.Gln1204Ter)

SNV
Unknown

Chr5:112839204

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16029259

rs_2533511336

1 SubmittersRCV003337561

NM_000038.6(APC):c.959C>A (p.Ser320Ter)

SNV
Germline

Chr5:112818991

Pathogenic

Familial adenomatous polyposis 1
Familial multiple polyposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16023408

rs_2149778990

2 SubmittersRCV003337562 RCV003988110

NM_000038.6(APC):c.423-12A>G

SNV
Germline

Chr5:112775617

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA2573130421

rs_2532409654

3 SubmittersRCV004566255 RCV004654198 RCV005399335

NM_000038.6(APC):c.1575C>A (p.Cys525Ter)

SNV
Germline

Chr5:112827955

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16024747

rs_2149813460

2 SubmittersRCV004566259

NM_000038.6(APC):c.4067C>A (p.Ser1356Ter)

SNV
Germline

Chr5:112839661

Pathogenic

Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16030244

rs_1554085480

3 SubmittersRCV004009750 RCV004566261

NM_000038.6(APC):c.3093T>G (p.Tyr1031Ter)

SNV
Unknown

Chr5:112838687

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16028108

rs_2149884161

1 SubmittersRCV004566267

NM_000038.6(APC):c.4654G>T (p.Glu1552Ter)

SNV
Unknown

Chr5:112840248

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16031533

rs_2149920210

1 SubmittersRCV004566268

NM_000038.6(APC):c.3815C>A (p.Ser1272Ter)

SNV
Unknown

Chr5:112839409

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16029702

rs_863225348

1 SubmittersRCV003334890

NM_000038.6(APC):c.385G>T (p.Glu129Ter)

SNV
Unknown

Chr5:112767353

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16022160

rs_376628500

1 SubmittersRCV003337578

NM_000038.6(APC):c.1748C>A (p.Ser583Ter)

SNV
Unknown

Chr5:112834955

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16025137

rs_2149840797

1 SubmittersRCV003337583

NM_000038.6(APC):c.4230C>A (p.Cys1410Ter)

SNV
Unknown

Chr5:112839824

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16030599

rs_2149909485

1 SubmittersRCV004566278

NM_000038.6(APC):c.3778C>T (p.Gln1260Ter)

SNV
Unknown

Chr5:112839372

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16029619

rs_2149898795

1 SubmittersRCV004566280

NM_000038.6(APC):c.950C>G (p.Ser317Ter)

SNV
Germline

Chr5:112818982

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16023389

rs_2149778856

2 SubmittersRCV004334140 RCV004564909

NM_000038.6(APC):c.2623A>T (p.Lys875Ter)

SNV
Unknown

Chr5:112838217

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16027071

rs_1580624931

1 SubmittersRCV004564910

NM_000038.6(APC):c.1549-2A>G

SNV
Germline

Chr5:112827927

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360619898

rs_2149813083

3 SubmittersRCV004334141 RCV004564913

NM_000038.6(APC):c.834+2T>G

SNV
Unknown

Chr5:112801385

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA360618297

rs_2149712622

1 SubmittersRCV004564925

NM_000038.6(APC):c.1429G>T (p.Glu477Ter)

SNV
Unknown

Chr5:112827128

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16024434

rs_1763761095

1 SubmittersRCV003337600

NM_000038.6(APC):c.3175G>T (p.Glu1059Ter)

SNV
Unknown

Chr5:112838769

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16028292

rs_1253882360

1 SubmittersRCV004564928

NM_000038.6(APC):c.4429C>T (p.Gln1477Ter)

SNV
Unknown

Chr5:112840023

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16031027

rs_2149914507

1 SubmittersRCV004564929

NM_000038.6(APC):c.1958+2T>C

SNV
Unknown

Chr5:112835167

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA360623927

rs_2149844646

1 SubmittersRCV004564940

NM_000038.6(APC):c.2863G>T (p.Glu955Ter)

SNV
Unknown

Chr5:112838457

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16027576

rs_2149879006

1 SubmittersRCV004564943

NM_000038.6(APC):c.1021C>T (p.Gln341Ter)

SNV
Unknown

Chr5:112819053

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16023544

rs_77058194

1 SubmittersRCV004564945

NM_000038.6(APC):c.422+2T>A

SNV
Germline

Chr5:112767392

Likely pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA360617476

rs_879254169

2 SubmittersRCV004564947 RCV005377358

NM_000038.6(APC):c.2821G>T (p.Glu941Ter)

SNV
Germline

Chr5:112838415

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16027483

rs_2149878177

2 SubmittersRCV004564950 RCV004661637

NM_000038.6(APC):c.1479C>G (p.Tyr493Ter)

SNV
Unknown

Chr5:112827178

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16024546

rs_1561553939

1 SubmittersRCV003337623

NM_000038.6(APC):c.3793G>T (p.Glu1265Ter)

SNV
Unknown

Chr5:112839387

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16029653

rs_2149899129

1 SubmittersRCV004564959

NM_000038.6(APC):c.3000C>G (p.Tyr1000Ter)

SNV
Unknown

Chr5:112838594

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16027897

rs_1580629755

1 SubmittersRCV004564963

NM_000038.6(APC):c.2841T>A (p.Cys947Ter)

SNV
Unknown

Chr5:112838435

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16027527

rs_2149878625

1 SubmittersRCV004564966

NM_000038.6(APC):c.2879C>G (p.Ser960Ter)

SNV
Unknown

Chr5:112838473

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16027612

rs_2149879342

1 SubmittersRCV003337633

NM_000038.6(APC):c.6386C>A (p.Ser2129Ter)

SNV
Germline

Chr5:112841980

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16035314

rs_587782301

2 SubmittersRCV004564970 RCV005054455

NM_000038.6(APC):c.1378G>T (p.Glu460Ter)

SNV
Germline

Chr5:112821961

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16024323

rs_786203718

2 SubmittersRCV003337641 RCV004943024

NM_000038.6(APC):c.4651A>T (p.Lys1551Ter)

SNV
Unknown

Chr5:112840245

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16031525

rs_2149920116

1 SubmittersRCV003337643

NM_000038.6(APC):c.1178C>A (p.Ser393Ter)

SNV
Unknown

Chr5:112819210

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16023885

rs_1114167545

1 SubmittersRCV004564975

NM_000038.6(APC):c.6574A>T (p.Lys2192Ter)

SNV
Germline

Chr5:112842168

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16035713

rs_756512551

2 SubmittersRCV004564980

NM_000038.6(APC):c.62C>A (p.Ser21Ter)

SNV
Unknown

Chr5:112754952

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16021476

rs_1361289668

1 SubmittersRCV003337651

NM_000038.6(APC):c.1960C>T (p.Gln654Ter)

SNV
Germline

Chr5:112837554

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16025602

rs_755105138

2 SubmittersRCV004564989

NM_000038.6(APC):c.6620C>A (p.Ser2207Ter)

SNV
Unknown

Chr5:112842214

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16035812

rs_758337476

1 SubmittersRCV004564991

NM_000038.6(APC):c.621C>A (p.Cys207Ter)

SNV
Unknown

Chr5:112780879

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16022696

rs_2149640773

1 SubmittersRCV003337659

NM_000038.6(APC):c.7318C>T (p.Gln2440Ter)

SNV
Unknown

Chr5:112842912

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16037267

rs_1270166239

1 SubmittersRCV003337662

NM_000038.6(APC):c.956T>A (p.Leu319Ter)

SNV
Unknown

Chr5:112818988

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16023400

rs_2149778946

1 SubmittersRCV004564999

NM_000038.6(APC):c.2735T>G (p.Leu912Ter)

SNV
Unknown

Chr5:112838329

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16027296

rs_2149876241

1 SubmittersRCV003335614

NM_000038.6(APC):c.3980C>A (p.Ser1327Ter)

SNV
Unknown

Chr5:112839574

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16030058

rs_1554085429

1 SubmittersRCV003337669

NM_000038.6(APC):c.6586A>T (p.Lys2196Ter)

SNV
Unknown

Chr5:112842180

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16035742

rs_864622102

1 SubmittersRCV004565010

NM_000038.6(APC):c.1619T>G (p.Leu540Ter)

SNV
Unknown

Chr5:112827999

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16024844

rs_1763886479

1 SubmittersRCV004565012

NM_000038.6(APC):c.2269C>T (p.Gln757Ter)

SNV
Germline

Chr5:112837863

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16026301

rs_2533408880

4 SubmittersRCV004565014 RCV005455769

NM_000038.6(APC):c.6983C>G (p.Ser2328Ter)

SNV
Unknown

Chr5:112842577

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16036556

rs_1766347750

1 SubmittersRCV003337677

NM_000038.6(APC):c.6303G>A (p.Trp2101Ter)

SNV
Unknown

Chr5:112841897

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16035135

rs_2149961882

1 SubmittersRCV004565015

NM_000038.6(APC):c.6121G>T (p.Glu2041Ter)

SNV
Unknown

Chr5:112841715

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16034732

rs_1561605162

1 SubmittersRCV004565019

NM_000038.6(APC):c.7387G>T (p.Glu2463Ter)

SNV
Unknown

Chr5:112842981

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16037423

rs_775437110

1 SubmittersRCV003337682

NM_000038.6(APC):c.2309C>A (p.Ser770Ter)

SNV
Unknown

Chr5:112837903

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16026393

rs_1060503310

1 SubmittersRCV004565020

NM_000038.6(APC):c.2752G>T (p.Glu918Ter)

SNV
Unknown

Chr5:112838346

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16027335

rs_1765256327

1 SubmittersRCV004565021

NM_000038.6(APC):c.5854C>T (p.Gln1952Ter)

SNV
Unknown

Chr5:112841448

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16034138

rs_1166934042

1 SubmittersRCV004565022

NM_000038.6(APC):c.2891T>A (p.Leu964Ter)

SNV
Unknown

Chr5:112838485

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16027640

rs_2533457195

1 SubmittersRCV003335702

NM_000038.6(APC):c.2767A>T (p.Arg923Ter)

SNV
Unknown

Chr5:112838361

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16027367

rs_1765259490

1 SubmittersRCV004565026

NM_000038.6(APC):c.4933G>T (p.Glu1645Ter)

SNV
Unknown

Chr5:112840527

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16032135

rs_2533609192

1 SubmittersRCV004565028

NM_000038.6(APC):c.1327G>T (p.Glu443Ter)

SNV
Unknown

Chr5:112821910

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16024211

rs_1763168688

1 SubmittersRCV004565031

NM_000038.6(APC):c.6419C>G (p.Ser2140Ter)

SNV
Unknown

Chr5:112842013

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16035383

rs_2149964478

1 SubmittersRCV003337686

NM_000038.6(APC):c.1408+1G>A

SNV
Unknown

Chr5:112821992

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA360619755

rs_1037746738

1 SubmittersRCV004565032

NM_000038.6(APC):c.4508C>A (p.Ser1503Ter)

SNV
Unknown

Chr5:112840102

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16031196

rs_2149916356

1 SubmittersRCV004565034

NM_000038.6(APC):c.1627-1G>C

SNV
Unknown

Chr5:112828855

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA360620467

rs_1580573847

1 SubmittersRCV004565035

NM_000038.6(APC):c.4588G>T (p.Glu1530Ter)

SNV
Unknown

Chr5:112840182

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16031379

rs_1580649974

1 SubmittersRCV003337688

NM_000038.6(APC):c.6950T>G (p.Leu2317Ter)

SNV
Unknown

Chr5:112842544

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16036490

rs_560565848

1 SubmittersRCV004565036

NM_000038.6(APC):c.7936C>T (p.Gln2646Ter)

SNV
Unknown

Chr5:112843530

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16038565

rs_1554088768

1 SubmittersRCV003335743

NM_000038.6(APC):c.2051T>A (p.Leu684Ter)

SNV
Germline

Chr5:112837645

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16025803

rs_2149859509

2 SubmittersRCV004334145 RCV004565038

NM_000038.6(APC):c.289G>T (p.Gly97Ter)

SNV
Unknown

Chr5:112767257

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16021963

rs_2149788254

1 SubmittersRCV004565040

NM_000038.6(APC):c.6169A>T (p.Lys2057Ter)

SNV
Unknown

Chr5:112841763

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16034841

rs_1561605597

1 SubmittersRCV004565046

NM_000038.6(APC):c.18T>G (p.Tyr6Ter)

SNV
Germline

Chr5:112754908

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16021372

rs_786202301

2 SubmittersRCV004565047

NM_000038.6(APC):c.6940C>T (p.Gln2314Ter)

SNV
Unknown

Chr5:112842534

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16036467

rs_2149976768

1 SubmittersRCV004565048

NM_002439.5(MSH3):c.2254-2A>G

SNV
Germline

Chr5:80775692

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA360280639

rs_768996067

3 SubmittersRCV003732590 RCV003459056 RCV003459865

NM_002439.5(MSH3):c.1309G>T (p.Glu437Ter)

SNV
Unknown

Chr5:80679062

Pathogenic/Likely pathogenic

Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA360269091

rs_2112819171

2 SubmittersRCV003461930 RCV004364784

NM_000038.6(APC):c.3715A>T (p.Arg1239Ter)

SNV
Unknown

Chr5:112839309

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16029485

rs_781075182

1 SubmittersRCV003463421

NM_000038.6(APC):c.6652C>T (p.Gln2218Ter)

SNV
Unknown

Chr5:112842246

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16035883

rs_2149969843

1 SubmittersRCV003471770

NM_000038.6(APC):c.7403C>G (p.Ser2468Ter)

SNV
Unknown

Chr5:112842997

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16037447

rs_1218259827

1 SubmittersRCV003463438

NM_000038.6(APC):c.3581C>G (p.Ser1194Ter)

SNV
Unknown

Chr5:112839175

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16029201

rs_2149894857

1 SubmittersRCV003463445

NM_000038.6(APC):c.5026A>T (p.Arg1676Ter)

SNV
Unknown

Chr5:112840620

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16032326

rs_370560998

1 SubmittersRCV003472536

NM_000038.6(APC):c.1207G>T (p.Glu403Ter)

SNV
Unknown

Chr5:112819239

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16023946

rs_2149782519

1 SubmittersRCV003471554

NM_000038.6(APC):c.2512A>T (p.Arg838Ter)

SNV
Unknown

Chr5:112838106

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16026833

rs_1580623387

1 SubmittersRCV003463206

NM_002528.7(NTHL1):c.507C>A (p.Tyr169Ter)

SNV
Unknown

Chr16:2044648

Likely pathogenic

Familial adenomatous polyposis 3

Criteria Provided
Single Submitter

CA394294112

rs_2084316484

1 SubmittersRCV003471618

NM_002528.7(NTHL1):c.115+2T>G

SNV
Unknown

Chr16:2047707

Likely pathogenic

Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA394298202

rs_2150957226

2 SubmittersRCV003463213

NM_002528.7(NTHL1):c.397C>T (p.Gln133Ter)

SNV
Unknown

Chr16:2044758

Likely pathogenic

Familial adenomatous polyposis 3

Criteria Provided
Single Submitter

CA394294573

rs_2548316384

1 SubmittersRCV003471619

NM_001048174.2(MUTYH):c.849+2T>A

SNV
Unknown

Chr1:45332164

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340134277

rs_1060501333

1 SubmittersRCV003470280

NM_001048174.2(MUTYH):c.378+1G>A

SNV
Unknown

Chr1:45333096

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340136057

rs_1645259682

1 SubmittersRCV003463076

NM_001048174.2(MUTYH):c.376C>T (p.Gln126Ter)

SNV
Germline

Chr1:45333099

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA340136065

rs_2149164413

2 SubmittersRCV003470281 RCV005402034

NM_002439.5(MSH3):c.2655+1G>T

SNV
Unknown

Chr5:80792845

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360273074

rs_1580053768

1 SubmittersRCV003459052

NM_002439.5(MSH3):c.3000+1G>A

SNV
Unknown

Chr5:80854317

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360275865

rs_2112106713

1 SubmittersRCV003459053

NM_002439.5(MSH3):c.1454-1G>T

SNV
Unknown

Chr5:80728850

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360274139

rs_2112857805

1 SubmittersRCV003459054

NM_002439.5(MSH3):c.2543+2T>C

SNV
Germline

Chr5:80787674

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA360283492

rs_2546784389

2 SubmittersRCV004364740 RCV003459055

NM_002439.5(MSH3):c.3302+1G>A

SNV
Unknown

Chr5:80873288

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360347222

rs_1376348767

1 SubmittersRCV003459057

NM_002439.5(MSH3):c.579+1G>T

SNV
Unknown

Chr5:80665364

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360264657

rs_2112809006

1 SubmittersRCV003459058

NM_002439.5(MSH3):c.358+1G>T

SNV
Unknown

Chr5:80656532

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360266634

rs_2112801912

1 SubmittersRCV003459060

NM_002439.5(MSH3):c.359-1G>C

SNV
Unknown

Chr5:80665142

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360262890

rs_1749540054

1 SubmittersRCV003459064

NM_002439.5(MSH3):c.85C>T (p.Gln29Ter)

SNV
Unknown

Chr5:80654812

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360265252

rs_1283575037

1 SubmittersRCV003459065

NM_002439.5(MSH3):c.2191C>T (p.Gln731Ter)

SNV
Germline

Chr5:80768941

Pathogenic

Familial adenomatous polyposis 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360279576

rs_2112885230

2 SubmittersRCV003459066 RCV003720913

NM_002439.5(MSH3):c.781G>T (p.Glu261Ter)

SNV
Unknown

Chr5:80670298

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360267012

rs_773879116

1 SubmittersRCV003459067

NM_002439.5(MSH3):c.971C>G (p.Ser324Ter)

SNV
Unknown

Chr5:80672802

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360267450

rs_887040509

1 SubmittersRCV003459069

NM_002439.5(MSH3):c.1303C>T (p.Gln435Ter)

SNV
Unknown

Chr5:80679056

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360269078

rs_2112819157

1 SubmittersRCV003459070

NM_002439.5(MSH3):c.1527C>G (p.Tyr509Ter)

SNV
Unknown

Chr5:80728924

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360274295

rs_764435977

1 SubmittersRCV003459072

NM_002439.5(MSH3):c.2499C>A (p.Cys833Ter)

SNV
Unknown

Chr5:80787628

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360283275

rs_1744532481

1 SubmittersRCV003459075

NM_002439.5(MSH3):c.2243C>G (p.Ser748Ter)

SNV
Unknown

Chr5:80768993

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360279786

rs_2546774332

1 SubmittersRCV003459076

NM_002439.5(MSH3):c.3172C>T (p.Gln1058Ter)

SNV
Germline

Chr5:80873157

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3328474

rs_752664887

4 SubmittersRCV003679210 RCV004943032 RCV004574031 RCV003459080

NM_002439.5(MSH3):c.1546G>T (p.Glu516Ter)

SNV
Unknown

Chr5:80728943

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360274342

rs_2546754698

1 SubmittersRCV003459082

NM_002439.5(MSH3):c.1645C>T (p.Gln549Ter)

SNV
Unknown

Chr5:80741540

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360274583

rs_2546760498

1 SubmittersRCV003459086

NM_002439.5(MSH3):c.557C>A (p.Ser186Ter)

SNV
Unknown

Chr5:80665341

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360264533

rs_750366331

1 SubmittersRCV003459088

NM_002439.5(MSH3):c.442C>T (p.Gln148Ter)

SNV
Germline

Chr5:80665226

Pathogenic

Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3327604

rs_772683764

2 SubmittersRCV003459099 RCV004943034

NM_002439.5(MSH3):c.751G>T (p.Glu251Ter)

SNV
Unknown

Chr5:80670268

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360266939

rs_1362962336

1 SubmittersRCV003459113

NM_002439.5(MSH3):c.2018T>G (p.Leu673Ter)

SNV
Unknown

Chr5:80768054

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360277762

rs_2546773676

1 SubmittersRCV003459116

NM_002439.5(MSH3):c.2101G>T (p.Glu701Ter)

SNV
Germline

Chr5:80768851

Pathogenic

Familial adenomatous polyposis 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360279217

rs_2546774176

2 SubmittersRCV003459118 RCV005100128

NM_002439.5(MSH3):c.2110A>T (p.Lys704Ter)

SNV
Unknown

Chr5:80768860

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360279255

rs_2546774207

1 SubmittersRCV003459124

NM_002439.5(MSH3):c.1709C>G (p.Ser570Ter)

SNV
Unknown

Chr5:80744561

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360274741

rs_1743680168

1 SubmittersRCV003459130

NM_002439.5(MSH3):c.61C>T (p.Gln21Ter)

SNV
Unknown

Chr5:80654788

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360265167

rs_2546709890

1 SubmittersRCV003459134

NM_001048174.2(MUTYH):c.704+1G>C

SNV
Unknown

Chr1:45332390

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340134742

rs_2149142613

1 SubmittersRCV003450436

NM_001048174.2(MUTYH):c.862C>T (p.Gln288Ter)

SNV
Germline

Chr1:45332074

Pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA340134197

rs_1423565685

3 SubmittersRCV003450437 RCV005403314

NM_002528.7(NTHL1):c.322G>T (p.Glu108Ter)

SNV
Unknown

Chr16:2046160

Pathogenic

Familial adenomatous polyposis 3

Criteria Provided
Single Submitter

CA394295274

rs_1596222596

1 SubmittersRCV003458299

NM_002528.7(NTHL1):c.565C>T (p.Gln189Ter)

SNV
Germline

Chr16:2043687

Pathogenic

Familial adenomatous polyposis 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394292140

rs_2548315177

2 SubmittersRCV003458301 RCV005100132

NM_002528.7(NTHL1):c.-9G>T

SNV
Unknown

Chr16:2047832

Pathogenic

Familial adenomatous polyposis 3

Criteria Provided
Single Submitter

CA394298816

rs_370913375

1 SubmittersRCV003458302

NM_002528.7(NTHL1):c.805G>T (p.Glu269Ter)

SNV
Unknown

Chr16:2040034

Pathogenic

Familial adenomatous polyposis 3

Criteria Provided
Single Submitter

CA394287541

rs_895744368

1 SubmittersRCV003458303

NM_002528.7(NTHL1):c.729G>A (p.Trp243Ter)

SNV
Germline

Chr16:2040195

Pathogenic

Familial adenomatous polyposis 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394289078

rs_2548311981

2 SubmittersRCV003458306 RCV003679212

NM_000038.6(APC):c.135+5C>G

SNV
Unknown

Chr5:112755030

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA1573473016

rs_1754805687

2 SubmittersRCV003477114 RCV004565065

NM_000038.6(APC):c.294C>T (p.Ser98=)

SNV
Germline

Chr5:112767262

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445753284

rs_2149788328

4 SubmittersRCV003477428 RCV004364822 RCV004565066

NM_000038.6(APC):c.3036T>A (p.Asn1012Lys)

SNV
Germline

Chr5:112838630

Likely pathogenic

Colorectal cancer
Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16027973

rs_2149882824

1 SubmittersRCV003484463

NM_001048174.2(MUTYH):c.955G>T (p.Glu319Ter)

SNV
Germline

Chr1:45331808

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340133797

rs_2149128878

1 SubmittersRCV003505528

NM_001048174.2(MUTYH):c.304+2T>G

SNV
Germline

Chr1:45333283

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340136222

rs_2524243548

1 SubmittersRCV003505437

NM_000038.6(APC):c.6535A>T (p.Lys2179Ter)

SNV
Germline

Chr5:112842129

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16035627

rs_376096304

2 SubmittersRCV004565384

NM_000038.6(APC):c.532-1G>T

SNV
Germline

Chr5:112780789

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA360617497

rs_1554072547

1 SubmittersRCV004565453

NM_000038.6(APC):c.1264G>T (p.Glu422Ter)

SNV
Germline

Chr5:112819296

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16024070

rs_755069015

1 SubmittersRCV004565455

NM_001048174.2(MUTYH):c.650G>T (p.Arg217Leu)

SNV
Germline

Chr1:45332445

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340134845

rs_140342925

2 SubmittersRCV003506530 RCV004943093

NM_000038.6(APC):c.4037C>G (p.Ser1346Ter)

SNV
Germline

Chr5:112839631

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16030182

rs_2149904709

1 SubmittersRCV004565460

NM_000038.6(APC):c.936G>A (p.Val312=)

SNV
Germline

Chr5:112818968

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA124969930

rs_766950362

3 SubmittersRCV004565499 RCV003584224

NM_000038.6(APC):c.835-2A>G

SNV
Germline

Chr5:112815493

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA360619006

rs_1762404363

1 SubmittersRCV004565505

NM_001048174.2(MUTYH):c.1240-1G>C

SNV
Germline

Chr1:45331335

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340132811

rs_876660837

1 SubmittersRCV003505000

NM_000038.6(APC):c.6845T>G (p.Leu2282Ter)

SNV
Germline

Chr5:112842439

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16036275

rs_1766315103

2 SubmittersRCV003584433 RCV003779317

NM_000038.6(APC):c.7764T>G (p.Asp2588Glu)

SNV
Germline

Chr5:112843358

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA049085

rs_757073062

2 SubmittersRCV003585632 RCV005100366

NM_001048174.2(MUTYH):c.1332T>G (p.Gly444=)

SNV
Germline

Chr1:45331242

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA417702072

rs_1477315899

2 SubmittersRCV003585651 RCV003614242

NM_001048174.2(MUTYH):c.493-12C>A

SNV
Germline

Chr1:45332699

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA522810453

rs_1430529522

2 SubmittersRCV003614287

NM_000038.6(APC):c.4648G>T (p.Glu1550Ter)

SNV
Germline

Chr5:112840242

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16031518

rs_2149920018

1 SubmittersRCV004574157

NM_001048174.2(MUTYH):c.116-2A>T

SNV
Germline

Chr1:45333563

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340136723

rs_2524285979

2 SubmittersRCV003613584 RCV004654278

NM_001048174.2(MUTYH):c.718C>T (p.Gln240Ter)

SNV
Germline

Chr1:45332297

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340134705

rs_2149140738

1 SubmittersRCV003613668

NM_000038.6(APC):c.7064C>A (p.Ser2355Ter)

SNV
Germline

Chr5:112842658

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16036723

rs_1766367247

1 SubmittersRCV004574227

NM_001048174.2(MUTYH):c.1240-2A>G

SNV
Germline

Chr1:45331336

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340132814

rs_1644799870

1 SubmittersRCV003613775

NM_000038.6(APC):c.5396T>G (p.Leu1799Ter)

SNV
Germline

Chr5:112840990

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16033127

rs_2533641270

1 SubmittersRCV004574266

NM_000038.6(APC):c.1787C>A (p.Ser596Ter)

SNV
Germline

Chr5:112834994

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16025227

rs_1554083134

1 SubmittersRCV004574282

NM_001048174.2(MUTYH):c.492+5G>A

SNV
Germline

Chr1:45332758

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2645377250

rs_2149155486

2 SubmittersRCV003613991 RCV005445915

NM_001048174.2(MUTYH):c.607-2A>C

SNV
Germline

Chr1:45332490

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340135250

rs_1361763237

2 SubmittersRCV003614589

NM_000038.6(APC):c.34C>T (p.Gln12Ter)

SNV
Germline

Chr5:112754924

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16021413

rs_2149737617

1 SubmittersRCV004574292

NM_001048174.2(MUTYH):c.1483C>G (p.Arg495Gly)

SNV
Germline

Chr1:45329389

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340131770

rs_147480076

2 SubmittersRCV003614776 RCV005377475

NM_001048174.2(MUTYH):c.1213G>T (p.Ala405Ser)

SNV
Germline

Chr1:45331446

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340132870

rs_1553125609

2 SubmittersRCV003614680 RCV005445919

NM_001048174.2(MUTYH):c.127C>T (p.Gln43Ter)

SNV
Germline

Chr1:45333550

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340136672

rs_2149175937

1 SubmittersRCV003615141

NM_001048174.2(MUTYH):c.1435-5C>T

SNV
Germline

Chr1:45329442

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2645381967

rs_886046365

2 SubmittersRCV003615443 RCV004374303

NM_000038.6(APC):c.531+7A>G

SNV
Germline

Chr5:112775744

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA2739274970

rs_2149616433

2 SubmittersRCV004374291

NM_001048174.2(MUTYH):c.849+1G>A

SNV
Germline

Chr1:45332165

Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA340134280

rs_2149136521

3 SubmittersRCV003811750 RCV004366738

NM_000038.6(APC):c.1744-5A>T

SNV
Germline

Chr5:112834946

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2709977399

rs_2149840693

2 SubmittersRCV003836129 RCV004943250

NM_000038.6(APC):c.5133T>A (p.Pro1711=)

SNV
Germline

Chr5:112840727

Conflicting classifications of pathogenicity

Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA446209602

rs_764152659

2 SubmittersRCV004013785 RCV004371973

NM_001048174.2(MUTYH):c.606+1G>A

SNV
Germline

Chr1:45332573

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340135255

rs_878854193

2 SubmittersRCV004013474

NM_001048174.2(MUTYH):c.850-1G>A

SNV
Germline

Chr1:45332087

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340134255

rs_2149135116

2 SubmittersRCV004012144

NM_001048174.2(MUTYH):c.115+2T>G

SNV
Germline

Chr1:45334389

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA340136912

rs_2524349632

2 SubmittersRCV004012527 RCV004654386

NM_001048174.2(MUTYH):c.1393-2A>G

SNV
Germline

Chr1:45330559

Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA340132423

rs_2523849246

2 SubmittersRCV004015174 RCV004943288

NM_001128425.2(MUTYH):c.36+1G>T

SNV
Germline

Chr1:45340218

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

CA340137822

rs_1553136984

1 SubmittersRCV004015479

NM_000038.6(APC):c.1959-6T>C

SNV
Germline

Chr5:112837547

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA2825001367

rs_2149857465

2 SubmittersRCV004439934

NM_000038.6(APC):c.6118C>T (p.Gln2040Ter)

SNV
Unknown

Chr5:112841712

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16034724

rs_1561605138

1 SubmittersRCV004440052

NM_002439.5(MSH3):c.1569-2A>G

SNV
Unknown

Chr5:80741462

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360274403

rs_2546760401

1 SubmittersRCV004442553

NM_002439.5(MSH3):c.1527C>A (p.Tyr509Ter)

SNV
Unknown

Chr5:80728924

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

CA360274294

rs_764435977

1 SubmittersRCV004442605

NM_002439.5(MSH3):c.2163T>A (p.Gly721=)

SNV
Germline

Chr5:80768913

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

CA445163088

rs_2546774255

2 SubmittersRCV004513671 RCV005358105

NM_000038.6(APC):c.3193C>T (p.Gln1065Ter)

SNV
Germline

Chr5:112838787

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

rs_1330361513

1 SubmittersRCV004576187

NM_002439.5(MSH3):c.2084+1G>T

SNV
Unknown

Chr5:80768121

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

rs_2112884587

1 SubmittersRCV004589221

NM_002439.5(MSH3):c.2776G>T (p.Glu926Ter)

SNV
Unknown

Chr5:80813704

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

rs_760629540

1 SubmittersRCV004589321

NM_000038.6(APC):c.532-1G>C

SNV
Germline

Chr5:112780789

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

rs_1554072547

1 SubmittersRCV004594877

NM_000038.6(APC):c.2122A>T (p.Lys708Ter)

SNV
Unknown

Chr5:112837716

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004791754

NM_002439.5(MSH3):c.3033T>A (p.Tyr1011Ter)

SNV
Germline

Chr5:80864845

Pathogenic

Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004791912 RCV005448036

NM_000038.6(APC):c.7664C>G (p.Ser2555Ter)

SNV
Germline

Chr5:112843258

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004791914 RCV005403440

NM_000038.6(APC):c.6823A>T (p.Lys2275Ter)

SNV
Germline

Chr5:112842417

Pathogenic

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005402210 RCV004806804

NM_001048174.2(MUTYH):c.1189C>T (p.Gln397Ter)

SNV
Germline

Chr1:45331470

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004944707 RCV005107560

NM_000038.6(APC):c.2735T>A (p.Leu912Ter)

SNV
Unknown

Chr5:112838329

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005001980

NM_000038.6(APC):c.3394G>T (p.Glu1132Ter)

SNV
Germline

Chr5:112838988

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005130936

NM_000038.6(APC):c.7915G>T (p.Glu2639Ter)

SNV
Germline

Chr5:112843509

Pathogenic

Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005134378 RCV005365416 RCV005468208

NM_000038.6(APC):c.7836G>A (p.Trp2612Ter)

SNV
Germline

Chr5:112843430

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005115901

NM_000038.6(APC):c.834+1G>T

SNV
Germline

Chr5:112801384

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005127522

NM_001048174.2(MUTYH):c.264+2T>C

SNV
Germline

Chr1:45333411

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005133356

NM_002439.5(MSH3):c.3070C>T (p.Gln1024Ter)

SNV
Germline

Chr5:80864882

Pathogenic

Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005125920 RCV005422551

NM_001048174.2(MUTYH):c.705-1G>A

SNV
Germline

Chr1:45332311

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

1 SubmittersRCV005141392

NM_000038.6(APC):c.526G>T (p.Glu176Ter)

SNV
Germline

Chr5:112775732

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005139155

NM_000038.6(APC):c.4786C>T (p.Gln1596Ter)

SNV
Germline

Chr5:112840380

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005138270

NM_000038.6(APC):c.1408+729A>G

SNV
Germline

Chr5:112822720

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005154441

NM_000038.6(APC):c.6622G>T (p.Glu2208Ter)

SNV
Germline

Chr5:112842216

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005204986

NM_001048174.2(MUTYH):c.704+1G>T

SNV
Germline

Chr1:45332390

Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005203277 RCV005379834

NM_000038.6(APC):c.1756A>T (p.Lys586Ter)

SNV
Germline

Chr5:112834963

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005200509

NM_000038.6(APC):c.4189G>T (p.Glu1397Ter)

SNV
Germline

Chr5:112839783

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005200516

NM_000038.6(APC):c.2569G>T (p.Gly857Ter)

SNV
Germline

Chr5:112838163

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005196930

NM_000038.6(APC):c.5077G>T (p.Glu1693Ter)

SNV
Unknown

Chr5:112840671

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005246179

NM_000038.6(APC):c.959C>G (p.Ser320Ter)

SNV
Unknown

Chr5:112818991

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005246350

NM_000038.6(APC):c.1273G>T (p.Glu425Ter)

SNV
Germline

Chr5:112819305

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005360215

NM_000038.6(APC):c.3587C>A (p.Ser1196Ter)

SNV
Germline

Chr5:112839181

Pathogenic

Classic or attenuated familial adenomatous polyposis

Criteria Provided
Single Submitter

1 SubmittersRCV005365670

NM_002439.5(MSH3):c.359-1G>T

SNV
Germline

Chr5:80665142

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV005362180

NM_002528.7(NTHL1):c.540C>A (p.Tyr180Ter)

SNV
Germline

Chr16:2043712

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005379692 RCV005422616

NM_000038.6(APC):c.4345A>T (p.Lys1449Ter)

SNV
Unknown

Chr5:112839939

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005424549

NM_002439.5(MSH3):c.2435+1G>A

SNV
Unknown

Chr5:80778837

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV005421647

NM_000038.6(APC):c.658A>T (p.Arg220Ter)

SNV
Germline

Chr5:112792458

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005600495

NM_002439.5(MSH3):c.1763+1G>C

SNV
Unknown

Chr5:80744616

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV005621412

NM_000038.6(APC):c.2891T>G (p.Leu964Ter)

SNV
Unknown

Chr5:112838485

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005621740