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	Chr5:112815564	Pathogenic/Likely pathogenic	Gardner syndrome Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to Familial multiple polyposis syndrome Classic or attenuated familial adenomatous polyposis	Criteria Provided Multiple Submitters No Conflicts	CA015644	rs_137854568	16 SubmittersRCV000000835 RCV000000834 RCV000077996 RCV000164370 RCV000210154 RCV000499742 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 Neoplasm of the large intestine	Criteria Provided Multiple Submitters No Conflicts	CA008865	rs_121913327	5 SubmittersRCV000000838 RCV000168134 RCV000423362
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 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA005374	rs_137854572	7 SubmittersRCV000000844 RCV000000843 RCV000503851 RCV000490845 RCV000657602
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 Condition: not provided Neoplasm of stomach Familial adenomatous polyposis 1 Desmoid disease, hereditary Hepatocellular carcinoma Carcinoma of colon Familial multiple polyposis syndrome Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA005424	rs_137854573	12 SubmittersRCV000000845 RCV000129303 RCV000210172 RCV000482405 RCV000763541 RCV000844608 RCV003162203
NM_000038.6(APC):c.1690C>T (p.Arg564Ter)	SNV Germline	Chr5:112828919	Pathogenic	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Familial multiple polyposis syndrome Classic or attenuated familial adenomatous polyposis	Criteria Provided Multiple Submitters No Conflicts	CA005451	rs_137854574	16 SubmittersRCV000000846 RCV000493386 RCV000524040 RCV001195432 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 Neoplasm of stomach Familial adenomatous polyposis 1 Desmoid disease, hereditary Hepatocellular carcinoma Carcinoma of colon Familial multiple polyposis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007805	rs_137854575	18 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 Hereditary cancer-predisposing syndrome not specified Familial multiple polyposis syndrome Colorectal cancer, susceptibility to Carcinoma of colon APC-Associated Polyposis Disorders Breast carcinoma Familial colorectal cancer Colorectal cancer	Criteria Provided Conflicting Classifications	CA008761	rs_1801155	46 SubmittersRCV000000864 RCV000000865 RCV000020088 RCV000034388 RCV000115087 RCV000120049 RCV000238802 RCV000210085 RCV000722046 RCV001535784 RCV001554302 RCV001824556 RCV001195214
NM_000038.6(APC):c.1495C>T (p.Arg499Ter)	SNV Germline/somatic	Chr5:112827194	Pathogenic	Gardner syndrome Familial multiple polyposis syndrome Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Carcinoma of colon APC-Associated Polyposis Disorders	Criteria Provided Multiple Submitters No Conflicts	CA005230	rs_137854580	15 SubmittersRCV000000867 RCV000499412 RCV000204796 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		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 not specified Carcinoma of colon Condition: not provided Gastric cancer Gastric cancer Familial adenomatous polyposis 2 MUTYH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA011761	rs_34612342	60 SubmittersRCV000005613 RCV000005612 RCV000115766 RCV000121607 RCV000144631 RCV000079502 RCV001554314 RCV002476933 RCV004528083
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 Neoplasm of stomach Familial adenomatous polyposis 2 Small intestine carcinoid Neoplasm of stomach Pilomatrixoma Familial adenomatous polyposis 2 Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas Ovarian carcinoma Colon cancer Breast carcinoma Familial colorectal cancer MUTYH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA011561	rs_36053993	66 SubmittersRCV000005615 RCV000005614 RCV000115748 RCV000079501 RCV000121598 RCV000144637 RCV000477907 RCV000493920 RCV000515320 RCV000501239 RCV001262769 RCV001580144 RCV001574076 RCV002051775 RCV004528084
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 Gastric cancer Familial adenomatous polyposis 2	Criteria Provided Multiple Submitters No Conflicts	CA013334	rs_121908380	17 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 Gastric cancer Familial adenomatous polyposis 2 MUTYH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA011650	rs_121908381	20 SubmittersRCV000005618 RCV000222872 RCV000235388 RCV001353602 RCV002496271 RCV003335015
NM_000038.6(APC):c.2438A>G (p.Asn813Ser)	SNV Germline	Chr5:112838032	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA007470	rs_201522866	11 SubmittersRCV000034381 RCV000162586 RCV001268977 RCV004566795
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 not specified Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA008452	rs_201004111	17 SubmittersRCV000034385 RCV000148371 RCV000130655 RCV000235094 RCV000204291 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 Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009940	rs_199775075	11 SubmittersRCV000034392 RCV000119236 RCV000163663 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 Familial adenomatous polyposis 1 Desmoid disease, hereditary Familial multiple polyposis syndrome Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA010884	rs_141576417	22 SubmittersRCV000034394 RCV000115109 RCV000120051 RCV001156934 RCV000709878 RCV000757929 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 Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary Familial adenomatous polyposis 1 Carcinoma of colon APC-Associated Polyposis Disorders APC-related disorder	Criteria Provided Conflicting Classifications	CA012449	rs_201375478	18 SubmittersRCV000034395 RCV000115114 RCV000211930 RCV000664301 RCV000515374 RCV000987580 RCV001353961 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 Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders	Criteria Provided Conflicting Classifications	CA012759	rs_200756935	16 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 Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome not specified APC-Associated Polyposis Disorders	Criteria Provided Conflicting Classifications	CA013674	rs_200399245	13 SubmittersRCV000034398 RCV000122799 RCV000164132 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	Criteria Provided Conflicting Classifications	CA014023	rs_200406572	10 SubmittersRCV000034400 RCV000129389 RCV000200515 RCV003996157
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	13 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	Criteria Provided Conflicting Classifications	CA005217	rs_137854580	10 SubmittersRCV000034403 RCV000472427 RCV000564391 RCV000780856 RCV003996158
NM_000038.6(APC):c.1604C>T (p.Ser535Phe)	SNV Germline	Chr5:112827984	Conflicting classifications of pathogenicity	Condition: not provided not specified Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome APC-related disorder	Criteria Provided Conflicting Classifications	CA005357	rs_75870842	15 SubmittersRCV000034404 RCV000035065 RCV000144567 RCV000159535 RCV003904891
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	Criteria Provided Conflicting Classifications	CA005403	rs_144056494	16 SubmittersRCV000034405 RCV000131638 RCV000211900 RCV000987559 RCV001353623 RCV001154528 RCV003996159
NM_000038.6(APC):c.2204C>T (p.Ala735Val)	SNV Germline	Chr5:112837798	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Colorectal cancer, susceptibility to not specified Familial multiple polyposis syndrome Neoplasm of the liver	Criteria Provided Conflicting Classifications	CA007259	rs_147655929	13 SubmittersRCV000034406 RCV000131447 RCV000198399 RCV000210149 RCV000254627 RCV000417343 RCV000677783
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)	SNV Germline	Chr5:112838767	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders Hereditary cancer	Criteria Provided Conflicting Classifications	CA008117	rs_148725540	26 SubmittersRCV000034408 RCV000120013 RCV000115079 RCV000168362 RCV000350760 RCV003492324
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 Familial multiple polyposis syndrome Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA008128	rs_201764637	15 SubmittersRCV000034409 RCV000455267 RCV000410470 RCV000659270 RCV000565565 RCV003996161
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)	SNV Germline	Chr5:112839966	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary Hereditary cancer Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009490	rs_143796828	10 SubmittersRCV000034415 RCV000159555 RCV000196865 RCV000515179 RCV003492325 RCV003996164
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)	SNV Germline	Chr5:112840986	Conflicting classifications of pathogenicity	Condition: not provided not specified Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA010373	rs_200794097	12 SubmittersRCV000034417 RCV000035077 RCV000167996 RCV000491791
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 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA012603	rs_148878262	21 SubmittersRCV000034419 RCV000131637 RCV000168325 RCV000211931 RCV001151804 RCV001353490 RCV003996165
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)	SNV Germline	Chr5:112843311	Conflicting classifications of pathogenicity	Condition: not provided Colorectal adenoma Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified	Criteria Provided Conflicting Classifications	CA013990	rs_145444830	15 SubmittersRCV000034421 RCV000148373 RCV000163980 RCV000122803 RCV000236063
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)	SNV Germline	Chr1:45331485	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Carcinoma of colon MUTYH-related disorder	Criteria Provided Conflicting Classifications	CA011605	rs_144079536	22 SubmittersRCV000034669 RCV000115755 RCV000123143 RCV000212714 RCV001353918 RCV004528162
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	22 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	Criteria Provided Conflicting Classifications	CA011841	rs_149866955	15 SubmittersRCV000034681 RCV000123156 RCV000129219 RCV000613933
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 MUTYH-related disorder Hereditary cancer	Criteria Provided Conflicting Classifications	CA011853	rs_138089183	21 SubmittersRCV000034682 RCV000131155 RCV000198445 RCV000212709 RCV004528164 RCV003492336
NM_001048174.2(MUTYH):c.850-2A>G	SNV Germline	Chr1:45332088	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Gastric cancer Carcinoma of colon MUTYH-related disorder	Criteria Provided Conflicting Classifications	CA011869	rs_77542170	19 SubmittersRCV000034683 RCV000122431 RCV000129053 RCV000212712 RCV001334797 RCV001357924 RCV004534727
NM_000038.6(APC):c.694C>T (p.Arg232Ter)	SNV Germline	Chr5:112792494	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Familial multiple polyposis syndrome Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA012693	rs_397515734	16 SubmittersRCV000035081 RCV000491782 RCV000486263 RCV000844606 RCV000763537
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 Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA004030	rs_3797704	12 SubmittersRCV000077980 RCV000491005 RCV000723617 RCV001353629 RCV003997193 RCV003764753
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	Chr5:112837959	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA007382	rs_398123117	5 SubmittersRCV000490954 RCV000657603 RCV004562245
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 Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA008851	rs_398123121	9 SubmittersRCV000077990 RCV000570934 RCV000501536 RCV003415842 RCV004562246
NM_000038.6(APC):c.5363G>A (p.Arg1788His)	SNV Germline	Chr5:112840957	Conflicting classifications of pathogenicity	not specified APC-Associated Polyposis Disorders Condition: not provided Familial adenomatous polyposis 1 Carcinoma of colon Neoplasm of stomach Desmoid disease, hereditary Hepatocellular carcinoma Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA010335	rs_201472075	11 SubmittersRCV000211922 RCV000393057 RCV000590729 RCV000764566 RCV000159559 RCV000232274
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 Familial multiple polyposis syndrome APC-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA004094	rs_587779780	18 SubmittersRCV000115066 RCV000234357 RCV000202096 RCV003479005 RCV003925108
NM_000038.6(APC):c.1825G>A (p.Val609Ile)	SNV Germline	Chr5:112835032	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Condition: not provided Carcinoma of colon	Criteria Provided Conflicting Classifications	CA006055	rs_147863331	12 SubmittersRCV000115070 RCV000198802 RCV000417366 RCV000679049 RCV001353927
NM_000038.6(APC):c.2413C>T (p.Arg805Ter)	SNV Germline	Chr5:112838007	Pathogenic	Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome Desmoid disease, hereditary Condition: not provided Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1 Gastric adenocarcinoma and proximal polyposis of the stomach APC-related attenuated familial adenomatous polyposis Familial adenomatous polyposis 1 APC-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA007452	rs_587779783	12 SubmittersRCV000115073 RCV000501097 RCV001292808 RCV001270020 RCV003997211 RCV001824606 RCV004562255 RCV003935094
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 Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA008326	rs_587779789	9 SubmittersRCV000115081 RCV000569678 RCV001251414 RCV004562256 RCV003997214
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg)	SNV Germline	Chr5:112838972	Conflicting classifications of pathogenicity	not specified Carcinoma of colon Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders	Criteria Provided Conflicting Classifications	CA008342	rs_149353082	15 SubmittersRCV000120024 RCV000677784 RCV000411300 RCV000985246 RCV000565031 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.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 not specified Colorectal adenoma Familial multiple polyposis syndrome APC-Associated Polyposis Disorders Familial adenomatous polyposis 1 Condition: not provided Familial colorectal cancer	Criteria Provided Conflicting Classifications	CA009483	rs_111866410	17 SubmittersRCV000115092 RCV000200964 RCV000148365 RCV000238996 RCV000264340 RCV000987572 RCV000586737 RCV001270348
NM_000038.6(APC):c.4766G>A (p.Arg1589His)	SNV Germline	Chr5:112840360	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	CA009743	rs_374048423	8 SubmittersRCV000115096 RCV000758729 RCV002514577 RCV003997219 RCV003493442
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 Carcinoma of colon Hereditary cancer APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009832	rs_587779796	12 SubmittersRCV000219975 RCV000410427 RCV000758730 RCV001355446 RCV003492449 RCV003952545 RCV003997220
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 Carcinoma of colon Colorectal cancer Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA009838	rs_370560998	17 SubmittersRCV000115100 RCV000120016 RCV000210376 RCV000587987 RCV001353642 RCV000735965 RCV004562262
NM_000038.6(APC):c.531+5G>A	SNV Germline	Chr5:112775742	Pathogenic	Condition: not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA010191	rs_587779798	3 SubmittersRCV000115103 RCV003337233 RCV002345412
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 Condition: not provided Hereditary cancer-predisposing syndrome Diffuse midline glioma, H3 K27-altered	Criteria Provided Conflicting Classifications	CA010490	rs_368080169	16 SubmittersRCV000115104 RCV000202997 RCV000148372 RCV000679068 RCV000572635 RCV003315229
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 Familial adenomatous polyposis 1 Ovarian cancer Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA010637	rs_587779800	7 SubmittersRCV000115106 RCV000562980 RCV003474709 RCV003153365 RCV003997224
NM_000038.6(APC):c.646C>T (p.Arg216Ter)	SNV Germline	Chr5:112792446	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Carcinoma of colon Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Familial multiple polyposis syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Multiple Submitters No Conflicts	CA012198	rs_62619935	11 SubmittersRCV000115111 RCV000223521 RCV000763536 RCV002281931 RCV003460798 RCV003997226
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 APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA012210	rs_587779804	12 SubmittersRCV000115112 RCV000122792 RCV000235096 RCV000587692 RCV003398710 RCV003997227
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	6 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 Hereditary cancer	Criteria Provided Conflicting Classifications	CA012589	rs_200587641	15 SubmittersRCV000115116 RCV000120028 RCV000122796 RCV000501432 RCV003477493 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	Criteria Provided Conflicting Classifications	CA013653	rs_372305287	20 SubmittersRCV000115120 RCV000120031 RCV000148360 RCV000590816 RCV000735966 RCV001353987
NM_000038.6(APC):c.7570A>G (p.Lys2524Glu)	SNV Germline	Chr5:112843164	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	CA013850	rs_143060722	9 SubmittersRCV000115122 RCV000211934 RCV000409766 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 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA014491	rs_369721828	14 SubmittersRCV000115128 RCV000197863 RCV000590250 RCV000722129 RCV003952546 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	Criteria Provided Conflicting Classifications	CA331819	rs_149262370	11 SubmittersRCV000115626 RCV000204656 RCV000590177 RCV001355765 RCV003153369
NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln)	SNV Germline	Chr1:45334492	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2 not specified	Criteria Provided Conflicting Classifications	CA011787	rs_587780081	11 SubmittersRCV000115752 RCV000212697 RCV000230254 RCV001194162
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	12 SubmittersRCV000115753 RCV000212713 RCV000465024 RCV002498495
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	8 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 Familial adenomatous polyposis 2 Pilomatrixoma Neoplasm of stomach Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA013854	rs_587780088	11 SubmittersRCV000115767 RCV000144639 RCV000206117 RCV000447652 RCV000763343 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 Familial adenomatous polyposis 2 Neoplasm of stomach not specified	Criteria Provided Conflicting Classifications	CA013903	rs_369677603	12 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 Condition: not provided Familial adenomatous polyposis 2 Carcinoma of colon	Criteria Provided Conflicting Classifications	CA014799	rs_3219488	16 SubmittersRCV000126894 RCV000448544 RCV000590480 RCV000986302 RCV001353610
NM_000038.6(APC):c.689G>A (p.Arg230His)	SNV Germline	Chr5:112792489	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA012635	rs_587780545	8 SubmittersRCV000119182 RCV000579594 RCV000589003
NM_000038.6(APC):c.6525A>G (p.Thr2175=)	SNV Germline	Chr5:112842119	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders not specified Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA012255	rs_200151646	12 SubmittersRCV000159521 RCV000374754 RCV000254629 RCV001310856 RCV004567033 RCV003997303 RCV003915184
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 APC-Associated Polyposis Disorders not specified Condition: not provided Carcinoma of colon Neoplasm of the liver	Criteria Provided Conflicting Classifications	CA008333	rs_377278397	15 SubmittersRCV000119206 RCV000130570 RCV000368182 RCV000235422 RCV000588540 RCV001354303 RCV000677781
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	27 SubmittersRCV000119223 RCV000126890 RCV000177119 RCV000513902 RCV001353596
NM_001127511.3(APC):c.119G>C (p.Ser40Thr)	SNV Germline	Chr5:112707836	Conflicting classifications of pathogenicity	not specified Familial adenomatous polyposis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA023283	rs_587778028	8 SubmittersRCV000120010 RCV000542057 RCV001705881
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr)	SNV Germline	Chr5:112839244	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA008605	rs_138933660	12 SubmittersRCV000120014 RCV000131570 RCV000199645 RCV000587732
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	Criteria Provided Conflicting Classifications	CA009368	rs_141519952	16 SubmittersRCV000120015 RCV000122777 RCV000131786 RCV000148358 RCV000589855 RCV003915187
NM_000038.6(APC):c.7543A>G (p.Ile2515Val)	SNV Germline	Chr5:112843137	Conflicting classifications of pathogenicity	not specified Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA013792	rs_554356011	9 SubmittersRCV000120019 RCV000167973 RCV000572762 RCV001527676
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	11 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	12 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	Criteria Provided Conflicting Classifications	CA008722	rs_371113837	13 SubmittersRCV000120026 RCV000129039 RCV000198586 RCV000657042
NM_000038.6(APC):c.6754C>G (p.Pro2252Ala)	SNV Germline	Chr5:112842348	Conflicting classifications of pathogenicity	not specified Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA012481	rs_587778035	3 SubmittersRCV000120027 RCV003764835
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)	SNV Germline	Chr5:112843084	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided APC-Associated Polyposis Disorders Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA013717	rs_141010008	18 SubmittersRCV000120032 RCV000131590 RCV000587624 RCV001153055 RCV004562271
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile)	SNV Germline	Chr5:112843426	Conflicting classifications of pathogenicity	not specified Familial adenomatous polyposis 1 Condition: not provided Colon adenocarcinoma Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA014100	rs_587778037	11 SubmittersRCV000120033 RCV000230402 RCV000586315 RCV000677760 RCV000774673 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 Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA007992	rs_564314108	8 SubmittersRCV000120035 RCV000568678 RCV001775597 RCV003997331 RCV004019666
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln)	SNV Germline	Chr5:112840513	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA009812	rs_529480958	11 SubmittersRCV000120041 RCV000164191 RCV000206279 RCV001704029
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	12 SubmittersRCV000120043 RCV000546435 RCV000574195 RCV001356898 RCV003997334
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	Criteria Provided Conflicting Classifications	CA014561	rs_587778046	11 SubmittersRCV000120047 RCV000163521 RCV000199434 RCV000677785 RCV000677786 RCV000677787 RCV001704030 RCV003952585
NM_000038.6(APC):c.3632T>G (p.Met1211Arg)	SNV Germline	Chr5:112839226	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 not specified Hereditary cancer-predisposing syndrome Condition: not provided APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA008588	rs_575268622	13 SubmittersRCV000122774 RCV000120048 RCV000568279 RCV001704031 RCV003905137 RCV003997337
NM_000038.6(APC):c.385G>C (p.Glu129Gln)	SNV Germline	Chr5:112767353	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA008713	rs_376628500	13 SubmittersRCV000120050 RCV000216893 RCV000196705 RCV000589545
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 Familial adenomatous polyposis 2 Pilomatrixoma Neoplasm of stomach	Criteria Provided Conflicting Classifications	CA014772	rs_147718169	18 SubmittersRCV000121592 RCV000129011 RCV000205715 RCV000656910 RCV000515294
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)	SNV Germline	Chr1:45330526	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 Hereditary cancer	Criteria Provided Conflicting Classifications	CA012960	rs_3219494	17 SubmittersRCV000130413 RCV000121600 RCV000195990 RCV000585961 RCV002498570 RCV004528833 RCV003492527
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 APC-Associated Polyposis Disorders Familial multiple polyposis syndrome Condition: not provided not specified Hereditary cancer	Criteria Provided Conflicting Classifications	CA007632	rs_192620988	17 SubmittersRCV000122764 RCV000131163 RCV000348086 RCV000238728 RCV000587302 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 Familial multiple polyposis syndrome Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders Gastric adenocarcinoma and proximal polyposis of the stomach Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA007712	rs_587780593	11 SubmittersRCV000122768 RCV000485846 RCV000664308 RCV000574171 RCV001157044 RCV003325185 RCV003997374
NM_000038.6(APC):c.3628C>T (p.His1210Tyr)	SNV Germline	Chr5:112839222	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	CA008571	rs_145181563	6 SubmittersRCV000129238 RCV001357972 RCV003997376 RCV002515908
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 not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009397	rs_200166878	9 SubmittersRCV000122779 RCV000235379 RCV000575531 RCV001193569 RCV003997378
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	8 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 Carcinoma of colon Condition: not provided	Criteria Provided Conflicting Classifications	CA009818	rs_202228932	17 SubmittersRCV000122783 RCV000128987 RCV000236885 RCV001353632 RCV000586353
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)	SNV Germline	Chr5:112840734	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome not specified Condition: not provided APC-Associated Polyposis Disorders APC-related disorder	Criteria Provided Conflicting Classifications	CA009886	rs_148275069	15 SubmittersRCV000122784 RCV000129088 RCV000479916 RCV000587086 RCV001157159 RCV003389701
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)	SNV Germline	Chr5:112841395	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 not specified Colorectal cancer, susceptibility to Familial multiple polyposis syndrome Hereditary cancer-predisposing syndrome Carcinoma of colon Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma APC-Associated Polyposis Disorders Condition: not provided APC-related disorder	Criteria Provided Conflicting Classifications	CA010706	rs_587780600	16 SubmittersRCV000122787 RCV000211923 RCV000210078 RCV000210900 RCV000159562 RCV000764567 RCV001155575 RCV000656747 RCV003398739
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 APC-Associated Polyposis Disorders Condition: not provided APC-related disorder Ovarian cancer	Criteria Provided Conflicting Classifications	CA012738	rs_146048493	14 SubmittersRCV000131625 RCV000148359 RCV000211933 RCV000987581 RCV001151806 RCV001719892 RCV003905173 RCV003153405
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser)	SNV Germline	Chr5:112843219	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	CA013956	rs_151163793	11 SubmittersRCV000122802 RCV000235882 RCV000575243 RCV000766452 RCV003997387
NM_000038.6(APC):c.777G>T (p.Arg259=)	SNV Germline	Chr5:112801326	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Carcinoma of colon Condition: not provided APC-Associated Polyposis Disorders Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA014042	rs_147704593	14 SubmittersRCV000123678 RCV000211894 RCV001353450 RCV000759445 RCV001151508 RCV004019702 RCV003997388
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	7 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 Hereditary cancer-predisposing syndrome Condition: not provided APC-Associated Polyposis Disorders not specified Ovarian cancer	Criteria Provided Conflicting Classifications	CA014501	rs_146115809	16 SubmittersRCV000122809 RCV000148374 RCV000493019 RCV000587542 RCV001157355 RCV001549270 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 Ovarian cancer Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA015623	rs_587780611	8 SubmittersRCV000213708 RCV001192830 RCV003153407 RCV001778740 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	14 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 Neoplasm of stomach Pilomatrixoma Familial adenomatous polyposis 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA012424	rs_587780744	11 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	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA013355	rs_587780746	13 SubmittersRCV000123149 RCV000131617 RCV000609799 RCV000759161
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)	SNV Germline	Chr1:45332479	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA014145	rs_200165598	17 SubmittersRCV000123153 RCV000131773 RCV000212704 RCV000586141
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)	SNV Germline	Chr1:45332443	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Condition: not provided Pilomatrixoma	Criteria Provided Conflicting Classifications	CA014236	rs_587780749	13 SubmittersRCV000123154 RCV000131615 RCV000212707 RCV001292933
NM_001048174.2(MUTYH):c.849+3A>C	SNV Germline	Chr1:45332163	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Condition: not provided Hereditary cancer-predisposing syndrome Colon cancer Carcinoma of colon MUTYH-related disorder	Criteria Provided Conflicting Classifications	CA014676	rs_587780751	26 SubmittersRCV000123158 RCV000212711 RCV000129539 RCV000626760 RCV001353438 RCV004542929
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	not specified Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA013081	rs_367908623	6 SubmittersRCV000126889 RCV000409930 RCV000579849
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 Familial adenomatous polyposis 2 Gastric cancer not specified	Criteria Provided Conflicting Classifications	CA012406	rs_373803765	8 SubmittersRCV000128948 RCV000461545 RCV001582599 RCV002478383 RCV003235050
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn)	SNV Germline	Chr5:112843062	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Carcinoma of colon Condition: not provided not specified Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA013697	rs_538230198	13 SubmittersRCV000128974 RCV000409539 RCV000481415 RCV000656750 RCV001731385 RCV003997468 RCV003407537
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	6 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 Condition: not provided not specified MUTYH-related disorder	Criteria Provided Conflicting Classifications	CA013648	rs_564930066	12 SubmittersRCV000129002 RCV000204817 RCV000656908 RCV000481844 RCV004532541
NM_001048174.2(MUTYH):c.1219C>T (p.His407Tyr)	SNV Germline	Chr1:45331440	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA012561	rs_141432759	7 SubmittersRCV000129005 RCV000410796 RCV000587968 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	Criteria Provided Multiple Submitters No Conflicts	CA013297	rs_138775799	11 SubmittersRCV000129018 RCV000235267 RCV000471769
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 Condition: not provided Familial adenomatous polyposis 2	Criteria Provided Multiple Submitters No Conflicts	CA014709	rs_587781338	5 SubmittersRCV000129103 RCV000478448 RCV000527702
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 Neoplasm of stomach Familial adenomatous polyposis 2 Pilomatrixoma Breast carcinoma Carcinoma of colon Diffuse midline glioma, H3 K27-altered MUTYH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA014226	rs_140342925	27 SubmittersRCV000129105 RCV000196778 RCV000212706 RCV000515198 RCV001262379 RCV001353906 RCV003313780 RCV004532545
NM_000038.6(APC):c.4055T>C (p.Val1352Ala)	SNV Germline	Chr5:112839649	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1 Condition: not provided Ovarian cancer Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA008875	rs_528724202	9 SubmittersRCV000129128 RCV000483615 RCV000646425 RCV001704052 RCV003153412 RCV003997481
NM_000038.6(APC):c.5257G>C (p.Ala1753Pro)	SNV Germline	Chr5:112840851	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA009970	rs_587781350	7 SubmittersRCV000129133 RCV003997484 RCV002514711
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	7 SubmittersRCV000129152 RCV000211901 RCV001778746 RCV002514712 RCV003997485
NM_000038.6(APC):c.637C>T (p.Arg213Ter)	SNV Germline	Chr5:112780895	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Carcinoma of colon Familial multiple polyposis syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA011131	rs_587781392	9 SubmittersRCV000129233 RCV000202175 RCV000763535 RCV001353439 RCV000825611 RCV002512529
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	Criteria Provided Conflicting Classifications	CA010025	rs_529543591	7 SubmittersRCV000129346 RCV000206391 RCV000677788
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 Condition: not provided not specified Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA007779	rs_587781500	9 SubmittersRCV000129473 RCV000483264 RCV000779714 RCV002514719 RCV003997504
NM_001048174.2(MUTYH):c.836G>A (p.Arg279Gln)	SNV Germline	Chr1:45332179	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA014631	rs_140156029	9 SubmittersRCV000129507 RCV000484904 RCV000467096 RCV000586807
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 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA008897	rs_139618756	14 SubmittersRCV000129585 RCV000167896 RCV000211912 RCV000588058 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	Criteria Provided Conflicting Classifications	CA015607	rs_201093383	9 SubmittersRCV000129720 RCV000211896 RCV000229223 RCV002478388 RCV003997520
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	14 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 not specified APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA008695	rs_587781637	11 SubmittersRCV000129750 RCV000211911 RCV000412401 RCV001818303 RCV003407543 RCV003997521
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 Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA015444	rs_147287751	16 SubmittersRCV000129949 RCV000198030 RCV000283075 RCV000515282 RCV000656753 RCV002267871
NM_000038.6(APC):c.220+2T>A	SNV Germline	Chr5:112766412	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Carcinoma of colon Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA007244	rs_587781809	9 SubmittersRCV000130080 RCV000202191 RCV000503701 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	11 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	10 SubmittersRCV000130090 RCV000195856 RCV000485276 RCV001797633 RCV003997549
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp)	SNV Germline	Chr1:45332791	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA013822	rs_587781864	9 SubmittersRCV000130180 RCV000456187 RCV000519177
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 Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary APC-Associated Polyposis Disorders not specified	Criteria Provided Conflicting Classifications	CA012330	rs_35540155	11 SubmittersRCV000130211 RCV000409211 RCV000484737 RCV000765788 RCV001157265 RCV002222403
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	Criteria Provided Conflicting Classifications	CA008564	rs_201185479	11 SubmittersRCV000130302 RCV000198440 RCV000236652 RCV001154640 RCV003479014 RCV003492599 RCV003998054
NM_000038.6(APC):c.8276G>A (p.Arg2759His)	SNV Germline	Chr5:112843870	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Condition: not provided not specified APC-related disorder Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA014525	rs_538289470	9 SubmittersRCV000130304 RCV000765791 RCV001549810 RCV002469020 RCV003430706 RCV003764867 RCV003998055
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	2 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	Criteria Provided Conflicting Classifications	CA012188	rs_62619935	2 SubmittersRCV000130641 RCV003764868
NM_000038.6(APC):c.449A>G (p.Lys150Arg)	SNV Germline	Chr5:112775655	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal adenoma Familial adenomatous polyposis 1 not specified Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009591	rs_371085910	16 SubmittersRCV000130643 RCV000148370 RCV000206082 RCV000211892 RCV000656744 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.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 Condition: not provided Familial adenomatous polyposis 1 not specified APC-related disorder Hereditary cancer	Criteria Provided Conflicting Classifications	CA012319	rs_186926737	11 SubmittersRCV000130848 RCV000236813 RCV000409644 RCV001174857 RCV003905234 RCV003492605
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	8 SubmittersRCV000131175 RCV000686573 RCV001353717
NM_000455.5(STK11):c.1012G>A (p.Val338Met)	SNV Germline	Chr19:1223076	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Peutz-Jeghers syndrome Malignant tumor of testis Carcinoma of pancreas Peutz-Jeghers syndrome Generalized juvenile polyposis/juvenile polyposis coli Familial adenomatous polyposis 2 STK11-related disorder	Criteria Provided Conflicting Classifications	CA022150	rs_587782302	14 SubmittersRCV000131186 RCV000222337 RCV000168376 RCV000765433 RCV001354464 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 APC-Associated Polyposis Disorders not specified Hereditary cancer Diffuse midline glioma, H3 K27-altered Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009730	rs_72541813	17 SubmittersRCV000131191 RCV000211915 RCV000232313 RCV001157157 RCV001818321 RCV003492615 RCV003325188 RCV003998088
NM_000038.6(APC):c.5274T>A (p.Ser1758=)	SNV Germline	Chr5:112840868	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA010018	rs_199600387	15 SubmittersRCV000131241 RCV000198344 RCV000502224 RCV000679064
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	Criteria Provided Conflicting Classifications	CA008168	rs_375408871	9 SubmittersRCV000131243 RCV000230602 RCV000758727 RCV003998093
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	Criteria Provided Conflicting Classifications	CA009806	rs_373440614	14 SubmittersRCV000131255 RCV000148368 RCV000587871 RCV001175337 RCV003998094
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	Criteria Provided Conflicting Classifications	CA015555	rs_149154604	11 SubmittersRCV000131302 RCV000167872 RCV000211895 RCV000779725 RCV003925279
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	Criteria Provided Conflicting Classifications	CA012458	rs_563275223	5 SubmittersRCV000131452 RCV000824066 RCV001194163
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	14 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 Colorectal cancer, susceptibility to Familial adenomatous polyposis 1 Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA012371	rs_367905430	13 SubmittersRCV000131588 RCV000211929 RCV000210106 RCV000234415 RCV000590651 RCV003998109
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	Criteria Provided Conflicting Classifications	CA012624	rs_587782564	5 SubmittersRCV000131785 RCV000462220 RCV000579114
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)	SNV Germline	Chr1:45331529	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Carcinoma of colon 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	24 SubmittersRCV000131914 RCV000191934 RCV000144633 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 not specified Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA009471	rs_587782678	7 SubmittersRCV000132104 RCV000590671 RCV002265621 RCV003998132 RCV002514750
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	Criteria Provided Conflicting Classifications	CA014653	rs_587782727	3 SubmittersRCV000132221 RCV000640388
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	3 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_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)	SNV Germline	Chr1:45332440	Pathogenic	Carcinoma of colon Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2 Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA014247	rs_587782885	15 SubmittersRCV000144630 RCV000132522 RCV000236829 RCV000500909 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 Condition: not provided not specified APC-related disorder	Criteria Provided Conflicting Classifications	CA004061	rs_587782886	10 SubmittersRCV000132523 RCV000168435 RCV000586652 RCV000722127 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	6 SubmittersRCV000144563 RCV000202095 RCV000563288
NM_000038.6(APC):c.1685C>T (p.Thr562Met)	SNV Germline	Chr5:112828914	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	CA005437	rs_587783034	9 SubmittersRCV000144570 RCV000222854 RCV000485323 RCV000766534 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	Criteria Provided Conflicting Classifications	CA013809	rs_587783036	10 SubmittersRCV000144574 RCV000572226 RCV000759443 RCV003492634 RCV003998160
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	17 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	Criteria Provided Conflicting Classifications	CA014753	rs_558173961	10 SubmittersRCV000213585 RCV000552627 RCV000766300 RCV001844058
NM_001048174.2(MUTYH):c.834C>G (p.Cys278Trp)	SNV Germline	Chr1:45332181	Conflicting classifications of pathogenicity	Condition: not provided Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA014594	rs_730881834	7 SubmittersRCV000160756 RCV000474320 RCV000573806
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	Criteria Provided Multiple Submitters No Conflicts	CA014470	rs_730881833	13 SubmittersRCV000160754 RCV000191933 RCV000221854 RCV003162678
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 Familial adenomatous polyposis 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA014186	rs_369120013	8 SubmittersRCV000160753 RCV000458598 RCV000656909 RCV003987380
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)	SNV Germline	Chr1:45332794	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified Gastric cancer Familial adenomatous polyposis 2 MUTYH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA013795	rs_143353451	15 SubmittersRCV000160752 RCV000214896 RCV000200700 RCV000508179 RCV002478487 RCV004535046
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	Criteria Provided Multiple Submitters No Conflicts	CA013507	rs_730881832	8 SubmittersRCV000160751 RCV000212700 RCV000701601
NM_025077.4(TOE1):c.-54G>T	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 adenomatous polyposis 1 Familial multiple polyposis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007872	rs_376213437	8 SubmittersRCV000159585 RCV001016886 RCV002515106 RCV003323417
NM_000038.6(APC):c.296G>A (p.Arg99Gln)	SNV Germline	Chr5:112767264	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	CA007959	rs_199842850	10 SubmittersRCV000197478 RCV000491566 RCV000585993 RCV003998427
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 Familial adenomatous polyposis 1 not specified 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 RCV000199795 RCV000211893 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	Criteria Provided Conflicting Classifications	CA015653	rs_730881231	10 SubmittersRCV000159528 RCV000217691 RCV000466236 RCV000779736 RCV003998401
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	Criteria Provided Conflicting Classifications	CA004108	rs_730881233	13 SubmittersRCV000159530 RCV000227001 RCV000568544 RCV000779739 RCV002484993 RCV003998402
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.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/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA007124	rs_730881240	5 SubmittersRCV000159538 RCV003380497 RCV004562320
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	Criteria Provided Conflicting Classifications	CA008176	rs_730881244	11 SubmittersRCV000159547 RCV000211907 RCV000234536 RCV002307414
NM_000038.6(APC):c.3347G>A (p.Gly1116Asp)	SNV Germline	Chr5:112838941	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	CA008298	rs_730881224	6 SubmittersRCV000159511 RCV001020050 RCV003998393 RCV004562314
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 Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA008372	rs_201550951	11 SubmittersRCV000159549 RCV000211910 RCV000586988 RCV001818351 RCV003998412 RCV004562323
NM_000038.6(APC):c.4073C>T (p.Ala1358Val)	SNV Germline	Chr5:112839667	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to not specified Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA008903	rs_730881249	10 SubmittersRCV000159553 RCV000210103 RCV000235095 RCV000998414 RCV004562326
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 Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA010991	rs_150140908	7 SubmittersRCV000218693 RCV000759438 RCV002516404 RCV003998396
NM_000038.6(APC):c.6526T>C (p.Leu2176=)	SNV Germline	Chr5:112842120	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified APC-Associated Polyposis Disorders Condition: not provided Carcinoma of colon Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA012274	rs_183468041	15 SubmittersRCV000159522 RCV000211925 RCV000282259 RCV000587270 RCV001356057 RCV004562317
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	Criteria Provided Conflicting Classifications	CA012361	rs_374597207	7 SubmittersRCV000159566 RCV000575448 RCV002265632 RCV003998418 RCV004562328
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	Criteria Provided Conflicting Classifications	CA012407	rs_730881256	10 SubmittersRCV000204441 RCV000216441 RCV000656749 RCV003998419
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	Criteria Provided Conflicting Classifications	CA012891	rs_730881257	12 SubmittersRCV000159568 RCV000219951 RCV000409928 RCV001192797 RCV003998420
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 Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA012961	rs_730881260	10 SubmittersRCV000159571 RCV000573375 RCV000590001 RCV003998421 RCV002516417
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 Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA013892	rs_730881265	7 SubmittersRCV000159576 RCV000211935 RCV000656751 RCV002516419 RCV003998423
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu)	SNV Germline	Chr5:112843701	Conflicting classifications of pathogenicity	Condition: not provided APC-Associated Polyposis Disorders Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA014335	rs_730881270	11 SubmittersRCV000159581 RCV000322812 RCV000525703 RCV000575937 RCV002307415 RCV003998426
NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys)	SNV Germline	Chr1:45329389	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided not specified MUTYH-related disorder	Criteria Provided Conflicting Classifications	CA013050	rs_147480076	11 SubmittersRCV000165016 RCV000229869 RCV000679426 RCV001175587 RCV004528913
NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=)	SNV Germline	Chr1:45329408	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial adenomatous polyposis 2 MUTYH-related disorder	Criteria Provided Conflicting Classifications	CA012995	rs_143796254	13 SubmittersRCV000163840 RCV000427252 RCV000586077 RCV001084408 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	Criteria Provided Conflicting Classifications	CA012892	rs_140288388	15 SubmittersRCV000166725 RCV000470920 RCV000506630 RCV001358548
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	Criteria Provided Conflicting Classifications	CA012415	rs_786202141	3 SubmittersRCV000164805 RCV000226921
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	Criteria Provided Conflicting Classifications	CA012294	rs_201412035	8 SubmittersRCV000163226 RCV000205649 RCV001706072
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 Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA012034	rs_372673338	11 SubmittersRCV000165812 RCV000255834 RCV000459930 RCV000584863
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.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	8 SubmittersRCV000165997 RCV000640360 RCV003320586 RCV003441765
NM_001048174.2(MUTYH):c.802C>T (p.Leu268=)	SNV Germline	Chr1:45332213	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA014567	rs_778782508	10 SubmittersRCV000163056 RCV000198018 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	20 SubmittersRCV000164625 RCV000235921 RCV000456980 RCV001353603 RCV001554252
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter)	SNV Germline	Chr1:45332300	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Gastric cancer Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA014333	rs_786203115	9 SubmittersRCV000166279 RCV000198325 RCV003162709 RCV003223616
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)	SNV Germline	Chr1:45332458	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 2	Criteria Provided Multiple Submitters No Conflicts	CA014196	rs_34126013	17 SubmittersRCV000164664 RCV000235834 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	8 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	9 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	7 SubmittersRCV000164867 RCV000799235 RCV001770127 RCV003320581
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)	SNV Germline	Chr1:45332795	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided Ovarian cancer Pilomatrixoma	Criteria Provided Conflicting Classifications	CA013785	rs_747993448	18 SubmittersRCV000166998 RCV000229525 RCV000236750 RCV003153454 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	8 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.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	8 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	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA013324	rs_748170941	14 SubmittersRCV000164326 RCV000196257 RCV000523882
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	11 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	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 not specified	Criteria Provided Conflicting Classifications	CA011725	rs_760321509	6 SubmittersRCV000166419 RCV000466932 RCV002307426
NM_000038.6(APC):c.70C>T (p.Arg24Ter)	SNV Germline	Chr5:112754960	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided not specified Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary Familial multiple polyposis syndrome Carcinoma of colon Gastric cancer Classic or attenuated familial adenomatous polyposis	Criteria Provided Multiple Submitters No Conflicts	CA012843	rs_145945630	16 SubmittersRCV000164002 RCV000227124 RCV000482864 RCV000508297 RCV000763534 RCV000844605 RCV001353710 RCV003162685 RCV003995307
NM_000038.6(APC):c.181G>A (p.Ala61Thr)	SNV Germline	Chr5:112766371	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	CA006037	rs_786201989	5 SubmittersRCV000164557 RCV001697165 RCV003995350 RCV004567246
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	Criteria Provided Multiple Submitters No Conflicts	CA007277	rs_786201291	6 SubmittersRCV000163246 RCV000480238 RCV003995243 RCV004562337
NM_000038.6(APC):c.564A>G (p.Gln188=)	SNV Germline	Chr5:112780822	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA010565	rs_377493489	9 SubmittersRCV000163065 RCV000428165 RCV000469275 RCV003995231
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 APC-related disorder Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA013925	rs_746850663	8 SubmittersRCV000165035 RCV002281064 RCV003965208 RCV004562355
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	Hereditary cancer-predisposing syndrome Condition: not provided Familial multiple polyposis syndrome Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary Carcinoma of colon Familial adenomatous polyposis 1 Colorectal cancer	Reviewed By Expert Panel	CA015543	rs_786201856	12 SubmittersRCV000164351 RCV000202113 RCV000501350 RCV000763538 RCV001353622 RCV002517615 RCV001789763
NM_000038.6(APC):c.994C>T (p.Arg332Ter)	SNV Germline	Chr5:112819026	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Familial multiple polyposis syndrome 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA016038	rs_775126020	13 SubmittersRCV000164280 RCV000202243 RCV000460182 RCV000503333 RCV002498813
NM_000038.6(APC):c.1121G>A (p.Arg374Gln)	SNV Germline	Chr5:112819153	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome Familial adenomatous polyposis 1 Carcinoma of colon Classic or attenuated familial adenomatous polyposis Condition: not provided	Criteria Provided Conflicting Classifications	CA004057	rs_141582813	11 SubmittersRCV000164563 RCV000239027 RCV000544500 RCV001353563 RCV003995351 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	Criteria Provided Conflicting Classifications	CA004248	rs_371065509	2 SubmittersRCV000165915 RCV004562362
NM_000038.6(APC):c.1722A>G (p.Glu574=)	SNV Germline	Chr5:112828951	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified APC-Associated Polyposis Disorders Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA005478	rs_786201277	7 SubmittersRCV000163224 RCV000421864 RCV000317916 RCV003995240 RCV002515127
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	Criteria Provided Conflicting Classifications	CA007300	rs_150209825	12 SubmittersRCV000163857 RCV000197204 RCV000236573 RCV001193496 RCV003995289
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.2805C>G (p.Tyr935Ter)	SNV Germline	Chr5:112838399	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial multiple polyposis syndrome Gastric adenocarcinoma and proximal polyposis of the stomach Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA007811	rs_137854575	7 SubmittersRCV000165582 RCV000202153 RCV000500049 RCV003137694 RCV004562359
NM_000038.6(APC):c.2948T>C (p.Ile983Thr)	SNV Germline	Chr5:112838542	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA007931	rs_113674464	4 SubmittersRCV000164561 RCV000466750
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 Condition: not provided APC-Associated Polyposis Disorders not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA008612	rs_377640390	10 SubmittersRCV000167240 RCV000233583 RCV000483908 RCV001154641 RCV001553558 RCV003995576
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 APC-related disorder Classic or attenuated familial adenomatous polyposis Condition: not provided	Criteria Provided Conflicting Classifications	CA008747	rs_746289994	10 SubmittersRCV000163132 RCV000409994 RCV000607365 RCV003945263 RCV003995236 RCV003477585
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	8 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 Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009538	rs_375380414	9 SubmittersRCV000165744 RCV000210169 RCV000607446 RCV000985303 RCV002516489 RCV003995448
NM_000038.6(APC):c.4534G>A (p.Asp1512Asn)	SNV Germline	Chr5:112840128	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified APC-Associated Polyposis Disorders Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009616	rs_778699501	7 SubmittersRCV000166273 RCV000236286 RCV001155477 RCV001704215 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 Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009865	rs_769273526	11 SubmittersRCV000163348 RCV000231340 RCV000758732 RCV000764565 RCV002267901 RCV003995246
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	Criteria Provided Conflicting Classifications	CA009933	rs_769558291	10 SubmittersRCV000163875 RCV000205541 RCV000589784 RCV003233477 RCV003995292
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 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA010734	rs_746346292	9 SubmittersRCV000164466 RCV000206414 RCV000483817 RCV000779706 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 Carcinoma of colon Condition: not provided APC-related disorder Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA010787	rs_754691867	13 SubmittersRCV000167000 RCV000455669 RCV000677738 RCV001358361 RCV002260627 RCV003975238 RCV004562375 RCV003995547
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	Criteria Provided Conflicting Classifications	CA010933	rs_372418435	11 SubmittersRCV000163274 RCV000236184 RCV000232978 RCV000656748 RCV001353588
NM_000038.6(APC):c.6446A>C (p.His2149Pro)	SNV Germline	Chr5:112842040	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	CA011185	rs_749230730	12 SubmittersRCV000164369 RCV000236978 RCV000545398 RCV000679080 RCV003995337
NM_000038.6(APC):c.6709C>T (p.Arg2237Ter)	SNV Germline	Chr5:112842303	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Familial multiple polyposis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA012440	rs_768922431	8 SubmittersRCV000167356 RCV000237046 RCV002515179 RCV004017447
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 not specified Condition: not provided Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA013665	rs_375586273	14 SubmittersRCV000163734 RCV000234737 RCV000779738 RCV001310857 RCV003995277 RCV003398835
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	11 SubmittersRCV000164075 RCV000226636 RCV000483633 RCV001582644 RCV003995310 RCV003937504
NM_000038.6(APC):c.7929A>G (p.Leu2643=)	SNV Germline	Chr5:112843523	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	CA014191	rs_138796072	14 SubmittersRCV000164877 RCV000230717 RCV000441754 RCV000858816 RCV001155674 RCV003995372
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	Criteria Provided Conflicting Classifications	CA014315	rs_761326128	10 SubmittersRCV000163313 RCV000205888 RCV000260617 RCV000602636 RCV003995245
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	8 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 APC-Associated Polyposis Disorders Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary cancer	Criteria Provided Conflicting Classifications	CA012234	rs_76685252	11 SubmittersRCV000168256 RCV000364207 RCV000563625 RCV000480784 RCV003987392 RCV003491922
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	Criteria Provided Multiple Submitters No Conflicts	CA004112	rs_559510809	3 SubmittersRCV000168200 RCV002444673
NM_000038.6(APC):c.2240C>T (p.Ser747Leu)	SNV Germline	Chr5:112837834	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	CA007315	rs_773020689	8 SubmittersRCV000218100 RCV000484713 RCV002291585 RCV003995610
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	not specified Hereditary cancer-predisposing syndrome Condition: not provided Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA009735	rs_72541813	8 SubmittersRCV000508130 RCV000565123 RCV001589045 RCV003995599 RCV004567358
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe)	SNV Germline	Chr5:112842787	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	CA012909	rs_150882838	13 SubmittersRCV000168076 RCV000486411 RCV000491288 RCV000657134 RCV003995605
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)	SNV Germline	Chr16:2046238	Pathogenic	Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome Condition: not provided NTHL1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA200196	rs_150766139	31 SubmittersRCV000172911 RCV000850062 RCV000657657 RCV003416065
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter)	SNV Germline/somatic	Chr5:112839942	Pathogenic	Familial adenomatous polyposis 1 Neoplasm of the large intestine Condition: not provided Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome APC-Associated Polyposis Disorders	Criteria Provided Multiple Submitters No Conflicts	CA009465	rs_121913332	12 SubmittersRCV000174977 RCV000441954 RCV000486553 RCV000494198 RCV000659277 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	Criteria Provided Conflicting Classifications	CA339462	rs_587780744	4 SubmittersRCV000200655 RCV000220875 RCV001574187
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	Criteria Provided Conflicting Classifications	CA059733	rs_751875215	6 SubmittersRCV000199615 RCV000217274 RCV004530193
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_000038.6(APC):c.309A>G (p.Val103=)	SNV Germline	Chr5:112767277	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	CA336102	rs_863224279	5 SubmittersRCV001018605 RCV003477651 RCV003765264 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 Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA026723	rs_201478136	4 SubmittersRCV000581511 RCV002469059 RCV004562406
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 Desmoid disease, hereditary Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA028603	rs_138098808	10 SubmittersRCV000199835 RCV000217491 RCV000235744 RCV000656746 RCV000764561
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	12 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	Condition: not provided Neoplasm of the large intestine Hereditary cancer-predisposing syndrome Carcinoma of colon not specified Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA338207	rs_121913333	15 SubmittersRCV000236362 RCV000438475 RCV000492041 RCV000500904 RCV001000185 RCV002288811
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 Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA035367	rs_202168805	9 SubmittersRCV000236811 RCV000491194 RCV001553560 RCV003996973 RCV004562408
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 Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA339368	rs_863224285	8 SubmittersRCV000570509 RCV000608378 RCV001357058 RCV003996942 RCV004562403
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	Criteria Provided Conflicting Classifications	CA049665	rs_767286063	8 SubmittersRCV000202229 RCV000572076 RCV000766698 RCV002500621 RCV002515464
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 not specified Desmoid disease, hereditary Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA050869	rs_780049836	10 SubmittersRCV000196318 RCV000478701 RCV000567493 RCV000779724 RCV000765792 RCV003996983
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	13 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	7 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/Likely pathogenic	Condition: not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Carcinoma of colon Desmoid disease, hereditary Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma APC-related disorder Familial multiple polyposis syndrome Classic or attenuated familial adenomatous polyposis	Criteria Provided Multiple Submitters No Conflicts	CA279764	rs_863225311	15 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 Unknown	Chr5:112827132	Pathogenic	Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Single Submitter	CA279696	rs_863225314	2 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 APC-related disorder Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279753	rs_863225347	8 SubmittersRCV000202149 RCV000490989 RCV002298521 RCV003982949 RCV004562426
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 Atypical endometrial hyperplasia Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA279766	rs_863225357	5 SubmittersRCV000202166 RCV003327380 RCV002519589
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter)	SNV Germline	Chr5:112843105	Pathogenic	Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA248496	rs_755046558	7 SubmittersRCV000201984 RCV002517338
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_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 Gastric cancer Familial adenomatous polyposis 2 MUTYH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA056613	rs_587782228	12 SubmittersRCV000204688 RCV000215469 RCV000479402 RCV002503805 RCV004530223
NM_001048174.2(MUTYH):c.913+3G>A	SNV Germline	Chr1:45332020	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA350688	rs_864622394	4 SubmittersRCV000206689 RCV000567027 RCV003477689
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	3 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 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA055629	rs_560905645	9 SubmittersRCV000204226 RCV000220830 RCV000985858 RCV000781623
NM_000038.6(APC):c.362G>T (p.Arg121Ile)	SNV Germline	Chr5:112767330	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA036020	rs_193049694	5 SubmittersRCV000570345 RCV003997627 RCV004563134
NM_000038.6(APC):c.1589T>C (p.Val530Ala)	SNV Germline	Chr5:112827969	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	CA028518	rs_202199891	12 SubmittersRCV000206690 RCV000235972 RCV000566249 RCV000657022 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 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary cancer	Criteria Provided Conflicting Classifications	CA348575	rs_535344579	6 SubmittersRCV000204328 RCV000478187 RCV000565056 RCV003491951
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 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA349100	rs_374380039	8 SubmittersRCV000204913 RCV000573936 RCV003997561
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser)	SNV Germline	Chr5:112838917	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified APC-related disorder Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA035035	rs_151286353	10 SubmittersRCV000236966 RCV000571447 RCV001264579 RCV003967554 RCV004567480
NM_000038.6(APC):c.5712A>G (p.Gln1904=)	SNV Germline	Chr5:112841306	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders not specified Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA042729	rs_755851369	5 SubmittersRCV000491966 RCV001152939 RCV002465562 RCV003765319
NM_000038.6(APC):c.5752A>G (p.Ile1918Val)	SNV Germline	Chr5:112841346	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA042868	rs_776966222	9 SubmittersRCV000204791 RCV000481360 RCV000574367 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 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA047064	rs_756153152	6 SubmittersRCV000236701 RCV000568621 RCV003468948 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	Colorectal cancer, susceptibility to Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA353493	rs_869312753	3 SubmittersRCV000210089 RCV000501976 RCV004563140
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.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	Criteria Provided Conflicting Classifications	CA059784	rs_765686051	6 SubmittersRCV000219497 RCV000540135 RCV001551196
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 Familial adenomatous polyposis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10577723	rs_587778534	6 SubmittersRCV000223375 RCV001220277 RCV001800559
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	7 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 not specified	Criteria Provided Conflicting Classifications	CA10577733	rs_876658641	5 SubmittersRCV000222177 RCV000471395 RCV001264555
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)	SNV Germline	Chr1:45332955	Pathogenic/Likely 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	11 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	5 SubmittersRCV000216618 RCV000485126 RCV000707329
NM_001048174.2(MUTYH):c.305-1G>C	SNV Germline	Chr1:45333171	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Familial adenomatous polyposis 2 Pilomatrixoma Neoplasm of stomach Condition: not provided Carcinoma of colon	Criteria Provided Multiple Submitters No Conflicts	CA10577740	rs_372267274	14 SubmittersRCV000221410 RCV000230931 RCV000763342 RCV000478994 RCV001353991
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	Criteria Provided Conflicting Classifications	CA10577741	rs_876660615	6 SubmittersRCV000218591 RCV000559697
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 not specified	Criteria Provided Conflicting Classifications	CA057160	rs_558707786	7 SubmittersRCV000220679 RCV000505782 RCV001219416 RCV001354525 RCV001420901
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	6 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_025077.4(TOE1):c.-37T>A	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 Familial adenomatous polyposis 1 APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA032367	rs_143145868	6 SubmittersRCV000220182 RCV003462427 RCV003417782 RCV003997815
NM_000038.6(APC):c.266C>G (p.Ser89Ter)	SNV Germline	Chr5:112767234	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578287	rs_876658846	4 SubmittersRCV000221332 RCV000767384
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	7 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	Criteria Provided Multiple Submitters No Conflicts	CA10578293	rs_876658325	5 SubmittersRCV000221156 RCV001269625 RCV003765401
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.933+1G>A	SNV Germline	Chr5:112815594	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Carcinoma of colon Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma 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	6 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.1342C>G (p.Pro448Ala)	SNV Germline	Chr5:112821925	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided APC-related disorder Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA027206	rs_374195067	7 SubmittersRCV000219615 RCV001575306 RCV003417795 RCV002516173 RCV003998591
NM_000038.6(APC):c.1417C>T (p.Gln473Ter)	SNV Germline	Chr5:112827116	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578316	rs_876658868	3 SubmittersRCV000219498 RCV002519679
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 Carcinoma of colon Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA028394	rs_371453363	8 SubmittersRCV000221284 RCV000461223 RCV000764560 RCV001284232
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 Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA029022	rs_747418061	7 SubmittersRCV000213578 RCV000779711 RCV001572567 RCV003998557 RCV004567640
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.1902T>G (p.Ser634Arg)	SNV Germline	Chr5:112835109	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA10578330	rs_876659460	3 SubmittersRCV000222920 RCV004563183
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 Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma not specified Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA032224	rs_186641437	7 SubmittersRCV000220641 RCV000485918 RCV000764563 RCV001174911 RCV002515684
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 Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA10578343	rs_876660004	5 SubmittersRCV000220564 RCV002515681 RCV003477749 RCV003998003
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.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	10 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	Criteria Provided Conflicting Classifications	CA10578361	rs_876659190	3 SubmittersRCV000223153 RCV004563173
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	Criteria Provided Conflicting Classifications	CA037222	rs_752926571	8 SubmittersRCV000219449 RCV000485020 RCV001818536 RCV003997998 RCV004563195
NM_000038.6(APC):c.4139C>T (p.Thr1380Ile)	SNV Germline	Chr5:112839733	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA10578369	rs_876660713	3 SubmittersRCV000223239 RCV000522947 RCV004567660
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 Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA038928	rs_756048549	7 SubmittersRCV000214073 RCV000461981 RCV003477717 RCV003997841
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 Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA040178	rs_201797422	5 SubmittersRCV000213972 RCV000348692 RCV004525836 RCV004567582
NM_000038.6(APC):c.5038C>T (p.Gln1680Ter)	SNV Germline	Chr5:112840632	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial multiple polyposis syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578390	rs_754122018	5 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	Criteria Provided Conflicting Classifications	CA10578397	rs_876660114	3 SubmittersRCV000221896 RCV004563199
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 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA041747	rs_764203580	8 SubmittersRCV000218908 RCV000457479 RCV001797685 RCV003126614 RCV003998563
NM_000038.6(APC):c.5424C>T (p.Asn1808=)	SNV Germline	Chr5:112841018	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA041957	rs_747721259	7 SubmittersRCV000216012 RCV001152937 RCV001545827 RCV004567579
NM_000038.6(APC):c.5465T>G (p.Val1822Gly)	SNV Germline	Chr5:112841059	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA10578404	rs_459552	5 SubmittersRCV000216852 RCV000589084 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 Familial adenomatous polyposis 1 APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA042221	rs_754648125	7 SubmittersRCV000215089 RCV000235925 RCV000271229 RCV002515673 RCV003947727 RCV003997982
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.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	Criteria Provided Conflicting Classifications	CA044469	rs_753228011	3 SubmittersRCV000213966 RCV001562688 RCV004567629
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	10 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	4 SubmittersRCV000214601 RCV000605613 RCV003407747 RCV004563145
NM_000038.6(APC):c.7471A>G (p.Met2491Val)	SNV Germline	Chr5:112843065	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA048161	rs_375674083	10 SubmittersRCV000222149 RCV000232400 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	Criteria Provided Conflicting Classifications	CA048192	rs_769889352	7 SubmittersRCV000214237 RCV000481205 RCV000780839 RCV002519728
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	6 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/Likely pathogenic	Familial adenomatous polyposis 2 Condition: not provided Hereditary cancer-predisposing syndrome MUTYH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10581802	rs_376790729	10 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_001128425.2(MUTYH):c.179A>G (p.Glu60Gly)	SNV Germline	Chr1:45333582	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10581813	rs_878854187	4 SubmittersRCV000231159 RCV000567365
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_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	Criteria Provided Conflicting Classifications	CA033407	rs_201567345	12 SubmittersRCV000233150 RCV000491761 RCV000657055 RCV001818550 RCV003998663
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 Colon cancer APC-Associated Polyposis Disorders not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA048563	rs_772806807	13 SubmittersRCV000229496 RCV000562662 RCV000677749 RCV001156936 RCV001193538 RCV003477779
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	8 SubmittersRCV000574604 RCV001192799 RCV001699072 RCV003401163 RCV003998691 RCV004563264
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	Criteria Provided Multiple Submitters No Conflicts	CA029187	rs_761458613	5 SubmittersRCV000484492 RCV002399804 RCV003401162 RCV002519767
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	Criteria Provided Conflicting Classifications	CA10582297	rs_878853427	3 SubmittersRCV002429085 RCV003998660 RCV004567692
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	Neoplasm of the large intestine Lung adenocarcinoma Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome Carcinoma of colon Condition: not provided Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10582306	rs_121913331	12 SubmittersRCV000424284 RCV000434269 RCV000491362 RCV000501152 RCV001353812 RCV001723814 RCV002516270
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 6 conditions Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA10582320	rs_759441332	13 SubmittersRCV000233240 RCV000567766 RCV000590193 RCV002487042 RCV003998672
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	9 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 Hereditary cancer-predisposing syndrome Condition: not provided 6 conditions Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA10582324	rs_752038930	12 SubmittersRCV000230741 RCV000573026 RCV000586532 RCV002487043 RCV003998675
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	8 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	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA043598	rs_774815653	8 SubmittersRCV000227428 RCV000571074 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	5 SubmittersRCV000573483 RCV001151802 RCV003998682 RCV004563255
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	8 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	9 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	8 SubmittersRCV000227563 RCV000582018 RCV001559106 RCV001731536 RCV003998693
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	Criteria Provided Conflicting Classifications	CA10582345	rs_878853476	3 SubmittersRCV001017724 RCV004563268
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	Criteria Provided Multiple Submitters No Conflicts	CA10584052	rs_879253783	8 SubmittersRCV000234996 RCV001013699 RCV001290975 RCV001559545
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	Criteria Provided Multiple Submitters No Conflicts	CA10584053	rs_879253784	4 SubmittersRCV001290976 RCV001552789 RCV002411065 RCV004567771
NM_001127511.3(APC):c.-192A>T	SNV Germline	Chr5:112707526	Pathogenic	Familial adenomatous polyposis 1	No Assertion Criteria Provided	CA10584054	rs_879253784	1 SubmittersRCV000234988
NM_001127511.3(APC):c.-190G>A	SNV Germline	Chr5:112707528	Pathogenic/Likely pathogenic	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Periampullary adenoma	Criteria Provided Multiple Submitters No Conflicts	CA10584055	rs_879253785	5 SubmittersRCV000234994 RCV004020915 RCV004020914

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

Chr5:112815564

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA015644

rs_137854568

16 SubmittersRCV000000835 RCV000000834 RCV000077996 RCV000164370 RCV000210154 RCV000499742 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
Neoplasm of the large intestine

Criteria Provided
Multiple Submitters
No Conflicts

CA008865

rs_121913327

5 SubmittersRCV000000838 RCV000168134 RCV000423362

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
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA005374

rs_137854572

7 SubmittersRCV000000844 RCV000000843 RCV000503851 RCV000490845 RCV000657602

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

Criteria Provided
Multiple Submitters
No Conflicts

CA005424

rs_137854573

12 SubmittersRCV000000845 RCV000129303 RCV000210172 RCV000482405 RCV000763541 RCV000844608 RCV003162203

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

SNV
Germline

Chr5:112828919

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA005451

rs_137854574

16 SubmittersRCV000000846 RCV000493386 RCV000524040 RCV001195432 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
Neoplasm of stomach
Familial adenomatous polyposis 1
Desmoid disease, hereditary
Hepatocellular carcinoma
Carcinoma of colon
Familial multiple polyposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007805

rs_137854575

18 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
Hereditary cancer-predisposing syndrome
not specified
Familial multiple polyposis syndrome
Colorectal cancer, susceptibility to
Carcinoma of colon
APC-Associated Polyposis Disorders
Breast carcinoma
Familial colorectal cancer
Colorectal cancer

Criteria Provided
Conflicting Classifications

CA008761

rs_1801155

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

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

SNV
Germline/somatic

Chr5:112827194

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA005230

rs_137854580

15 SubmittersRCV000000867 RCV000499412 RCV000204796 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA011761

rs_34612342

60 SubmittersRCV000005613 RCV000005612 RCV000115766 RCV000121607 RCV000144631 RCV000079502 RCV001554314 RCV002476933 RCV004528083

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
Neoplasm of stomach
Familial adenomatous polyposis 2
Small intestine carcinoid
Neoplasm of stomach
Pilomatrixoma
Familial adenomatous polyposis 2
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
Ovarian carcinoma
Colon cancer
Breast carcinoma
Familial colorectal cancer
MUTYH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA011561

rs_36053993

66 SubmittersRCV000005615 RCV000005614 RCV000115748 RCV000079501 RCV000121598 RCV000144637 RCV000477907 RCV000493920 RCV000515320 RCV000501239 RCV001262769 RCV001580144 RCV001574076 RCV002051775 RCV004528084

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
Gastric cancer
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA013334

rs_121908380

17 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
Gastric cancer
Familial adenomatous polyposis 2
MUTYH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA011650

rs_121908381

20 SubmittersRCV000005618 RCV000222872 RCV000235388 RCV001353602 RCV002496271 RCV003335015

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

SNV
Germline

Chr5:112838032

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007470

rs_201522866

11 SubmittersRCV000034381 RCV000162586 RCV001268977 RCV004566795

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
not specified
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA008452

rs_201004111

17 SubmittersRCV000034385 RCV000148371 RCV000130655 RCV000235094 RCV000204291 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
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009940

rs_199775075

11 SubmittersRCV000034392 RCV000119236 RCV000163663 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
Familial adenomatous polyposis 1
Desmoid disease, hereditary
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA010884

rs_141576417

22 SubmittersRCV000034394 RCV000115109 RCV000120051 RCV001156934 RCV000709878 RCV000757929 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
Carcinoma of colon
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Carcinoma of colon
APC-Associated Polyposis Disorders
APC-related disorder

Criteria Provided
Conflicting Classifications

CA012449

rs_201375478

18 SubmittersRCV000034395 RCV000115114 RCV000211930 RCV000664301 RCV000515374 RCV000987580 RCV001353961 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
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
Desmoid disease, hereditary
Familial adenomatous polyposis 1
APC-Associated Polyposis Disorders

Criteria Provided
Conflicting Classifications

CA012759

rs_200756935

16 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
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
not specified
APC-Associated Polyposis Disorders

Criteria Provided
Conflicting Classifications

CA013674

rs_200399245

13 SubmittersRCV000034398 RCV000122799 RCV000164132 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

Criteria Provided
Conflicting Classifications

CA014023

rs_200406572

10 SubmittersRCV000034400 RCV000129389 RCV000200515 RCV003996157

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

13 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

Criteria Provided
Conflicting Classifications

CA005217

rs_137854580

10 SubmittersRCV000034403 RCV000472427 RCV000564391 RCV000780856 RCV003996158

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

SNV
Germline

Chr5:112827984

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA005357

rs_75870842

15 SubmittersRCV000034404 RCV000035065 RCV000144567 RCV000159535 RCV003904891

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

Criteria Provided
Conflicting Classifications

CA005403

rs_144056494

16 SubmittersRCV000034405 RCV000131638 RCV000211900 RCV000987559 RCV001353623 RCV001154528 RCV003996159

NM_000038.6(APC):c.2204C>T (p.Ala735Val)

SNV
Germline

Chr5:112837798

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Colorectal cancer, susceptibility to
not specified
Familial multiple polyposis syndrome
Neoplasm of the liver

Criteria Provided
Conflicting Classifications

CA007259

rs_147655929

13 SubmittersRCV000034406 RCV000131447 RCV000198399 RCV000210149 RCV000254627 RCV000417343 RCV000677783

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

SNV
Germline

Chr5:112838767

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008117

rs_148725540

26 SubmittersRCV000034408 RCV000120013 RCV000115079 RCV000168362 RCV000350760 RCV003492324

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

Criteria Provided
Conflicting Classifications

CA008128

rs_201764637

15 SubmittersRCV000034409 RCV000455267 RCV000410470 RCV000659270 RCV000565565 RCV003996161

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

SNV
Germline

Chr5:112839966

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009490

rs_143796828

10 SubmittersRCV000034415 RCV000159555 RCV000196865 RCV000515179 RCV003492325 RCV003996164

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

SNV
Germline

Chr5:112840986

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010373

rs_200794097

12 SubmittersRCV000034417 RCV000035077 RCV000167996 RCV000491791

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
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA012603

rs_148878262

21 SubmittersRCV000034419 RCV000131637 RCV000168325 RCV000211931 RCV001151804 RCV001353490 RCV003996165

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

SNV
Germline

Chr5:112843311

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013990

rs_145444830

15 SubmittersRCV000034421 RCV000148373 RCV000163980 RCV000122803 RCV000236063

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

SNV
Germline

Chr1:45331485

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011605

rs_144079536

22 SubmittersRCV000034669 RCV000115755 RCV000123143 RCV000212714 RCV001353918 RCV004528162

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

22 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

Criteria Provided
Conflicting Classifications

CA011841

rs_149866955

15 SubmittersRCV000034681 RCV000123156 RCV000129219 RCV000613933

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
MUTYH-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA011853

rs_138089183

21 SubmittersRCV000034682 RCV000131155 RCV000198445 RCV000212709 RCV004528164 RCV003492336

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

SNV
Germline

Chr1:45332088

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011869

rs_77542170

19 SubmittersRCV000034683 RCV000122431 RCV000129053 RCV000212712 RCV001334797 RCV001357924 RCV004534727

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

SNV
Germline

Chr5:112792494

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012693

rs_397515734

16 SubmittersRCV000035081 RCV000491782 RCV000486263 RCV000844606 RCV000763537

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
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA004030

rs_3797704

12 SubmittersRCV000077980 RCV000491005 RCV000723617 RCV001353629 RCV003997193 RCV003764753

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

Chr5:112837959

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA007382

rs_398123117

5 SubmittersRCV000490954 RCV000657603 RCV004562245

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
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008851

rs_398123121

9 SubmittersRCV000077990 RCV000570934 RCV000501536 RCV003415842 RCV004562246

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

SNV
Germline

Chr5:112840957

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010335

rs_201472075

11 SubmittersRCV000211922 RCV000393057 RCV000590729 RCV000764566 RCV000159559 RCV000232274

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
Familial multiple polyposis syndrome
APC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA004094

rs_587779780

18 SubmittersRCV000115066 RCV000234357 RCV000202096 RCV003479005 RCV003925108

NM_000038.6(APC):c.1825G>A (p.Val609Ile)

SNV
Germline

Chr5:112835032

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA006055

rs_147863331

12 SubmittersRCV000115070 RCV000198802 RCV000417366 RCV000679049 RCV001353927

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

SNV
Germline

Chr5:112838007

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA007452

rs_587779783

12 SubmittersRCV000115073 RCV000501097 RCV001292808 RCV001270020 RCV003997211 RCV001824606 RCV004562255 RCV003935094

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
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA008326

rs_587779789

9 SubmittersRCV000115081 RCV000569678 RCV001251414 RCV004562256 RCV003997214

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

SNV
Germline

Chr5:112838972

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008342

rs_149353082

15 SubmittersRCV000120024 RCV000677784 RCV000411300 RCV000985246 RCV000565031 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.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
not specified
Colorectal adenoma
Familial multiple polyposis syndrome
APC-Associated Polyposis Disorders
Familial adenomatous polyposis 1
Condition: not provided
Familial colorectal cancer

Criteria Provided
Conflicting Classifications

CA009483

rs_111866410

17 SubmittersRCV000115092 RCV000200964 RCV000148365 RCV000238996 RCV000264340 RCV000987572 RCV000586737 RCV001270348

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

SNV
Germline

Chr5:112840360

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

CA009743

rs_374048423

8 SubmittersRCV000115096 RCV000758729 RCV002514577 RCV003997219 RCV003493442

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
Carcinoma of colon
Hereditary cancer
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009832

rs_587779796

12 SubmittersRCV000219975 RCV000410427 RCV000758730 RCV001355446 RCV003492449 RCV003952545 RCV003997220

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
Carcinoma of colon
Colorectal cancer
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA009838

rs_370560998

17 SubmittersRCV000115100 RCV000120016 RCV000210376 RCV000587987 RCV001353642 RCV000735965 RCV004562262

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

SNV
Germline

Chr5:112775742

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA010191

rs_587779798

3 SubmittersRCV000115103 RCV003337233 RCV002345412

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
Condition: not provided
Hereditary cancer-predisposing syndrome
Diffuse midline glioma, H3 K27-altered

Criteria Provided
Conflicting Classifications

CA010490

rs_368080169

16 SubmittersRCV000115104 RCV000202997 RCV000148372 RCV000679068 RCV000572635 RCV003315229

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
Familial adenomatous polyposis 1
Ovarian cancer
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA010637

rs_587779800

7 SubmittersRCV000115106 RCV000562980 RCV003474709 RCV003153365 RCV003997224

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

SNV
Germline

Chr5:112792446

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA012198

rs_62619935

11 SubmittersRCV000115111 RCV000223521 RCV000763536 RCV002281931 RCV003460798 RCV003997226

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
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA012210

rs_587779804

12 SubmittersRCV000115112 RCV000122792 RCV000235096 RCV000587692 RCV003398710 RCV003997227

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

6 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
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA012589

rs_200587641

15 SubmittersRCV000115116 RCV000120028 RCV000122796 RCV000501432 RCV003477493 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

Criteria Provided
Conflicting Classifications

CA013653

rs_372305287

20 SubmittersRCV000115120 RCV000120031 RCV000148360 RCV000590816 RCV000735966 RCV001353987

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

SNV
Germline

Chr5:112843164

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

CA013850

rs_143060722

9 SubmittersRCV000115122 RCV000211934 RCV000409766 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
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA014491

rs_369721828

14 SubmittersRCV000115128 RCV000197863 RCV000590250 RCV000722129 RCV003952546 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

Criteria Provided
Conflicting Classifications

CA331819

rs_149262370

11 SubmittersRCV000115626 RCV000204656 RCV000590177 RCV001355765 RCV003153369

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

SNV
Germline

Chr1:45334492

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA011787

rs_587780081

11 SubmittersRCV000115752 RCV000212697 RCV000230254 RCV001194162

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

12 SubmittersRCV000115753 RCV000212713 RCV000465024 RCV002498495

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

8 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
Familial adenomatous polyposis 2
Pilomatrixoma
Neoplasm of stomach
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA013854

rs_587780088

11 SubmittersRCV000115767 RCV000144639 RCV000206117 RCV000447652 RCV000763343 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
Familial adenomatous polyposis 2
Neoplasm of stomach
not specified

Criteria Provided
Conflicting Classifications

CA013903

rs_369677603

12 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
Condition: not provided
Familial adenomatous polyposis 2
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA014799

rs_3219488

16 SubmittersRCV000126894 RCV000448544 RCV000590480 RCV000986302 RCV001353610

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

SNV
Germline

Chr5:112792489

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012635

rs_587780545

8 SubmittersRCV000119182 RCV000579594 RCV000589003

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

SNV
Germline

Chr5:112842119

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012255

rs_200151646

12 SubmittersRCV000159521 RCV000374754 RCV000254629 RCV001310856 RCV004567033 RCV003997303 RCV003915184

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
APC-Associated Polyposis Disorders
not specified
Condition: not provided
Carcinoma of colon
Neoplasm of the liver

Criteria Provided
Conflicting Classifications

CA008333

rs_377278397

15 SubmittersRCV000119206 RCV000130570 RCV000368182 RCV000235422 RCV000588540 RCV001354303 RCV000677781

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

27 SubmittersRCV000119223 RCV000126890 RCV000177119 RCV000513902 RCV001353596

NM_001127511.3(APC):c.119G>C (p.Ser40Thr)

SNV
Germline

Chr5:112707836

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023283

rs_587778028

8 SubmittersRCV000120010 RCV000542057 RCV001705881

NM_000038.6(APC):c.3650A>C (p.Asn1217Thr)

SNV
Germline

Chr5:112839244

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008605

rs_138933660

12 SubmittersRCV000120014 RCV000131570 RCV000199645 RCV000587732

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

Criteria Provided
Conflicting Classifications

CA009368

rs_141519952

16 SubmittersRCV000120015 RCV000122777 RCV000131786 RCV000148358 RCV000589855 RCV003915187

NM_000038.6(APC):c.7543A>G (p.Ile2515Val)

SNV
Germline

Chr5:112843137

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013792

rs_554356011

9 SubmittersRCV000120019 RCV000167973 RCV000572762 RCV001527676

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

11 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

12 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

Criteria Provided
Conflicting Classifications

CA008722

rs_371113837

13 SubmittersRCV000120026 RCV000129039 RCV000198586 RCV000657042

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

SNV
Germline

Chr5:112842348

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA012481

rs_587778035

3 SubmittersRCV000120027 RCV003764835

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

SNV
Germline

Chr5:112843084

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013717

rs_141010008

18 SubmittersRCV000120032 RCV000131590 RCV000587624 RCV001153055 RCV004562271

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

SNV
Germline

Chr5:112843426

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014100

rs_587778037

11 SubmittersRCV000120033 RCV000230402 RCV000586315 RCV000677760 RCV000774673 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
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA007992

rs_564314108

8 SubmittersRCV000120035 RCV000568678 RCV001775597 RCV003997331 RCV004019666

NM_000038.6(APC):c.4919G>A (p.Arg1640Gln)

SNV
Germline

Chr5:112840513

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009812

rs_529480958

11 SubmittersRCV000120041 RCV000164191 RCV000206279 RCV001704029

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

12 SubmittersRCV000120043 RCV000546435 RCV000574195 RCV001356898 RCV003997334

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

Criteria Provided
Conflicting Classifications

CA014561

rs_587778046

11 SubmittersRCV000120047 RCV000163521 RCV000199434 RCV000677785 RCV000677786 RCV000677787 RCV001704030 RCV003952585

NM_000038.6(APC):c.3632T>G (p.Met1211Arg)

SNV
Germline

Chr5:112839226

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008588

rs_575268622

13 SubmittersRCV000122774 RCV000120048 RCV000568279 RCV001704031 RCV003905137 RCV003997337

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

SNV
Germline

Chr5:112767353

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008713

rs_376628500

13 SubmittersRCV000120050 RCV000216893 RCV000196705 RCV000589545

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
Familial adenomatous polyposis 2
Pilomatrixoma
Neoplasm of stomach

Criteria Provided
Conflicting Classifications

CA014772

rs_147718169

18 SubmittersRCV000121592 RCV000129011 RCV000205715 RCV000656910 RCV000515294

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

SNV
Germline

Chr1:45330526

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
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA012960

rs_3219494

17 SubmittersRCV000130413 RCV000121600 RCV000195990 RCV000585961 RCV002498570 RCV004528833 RCV003492527

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
APC-Associated Polyposis Disorders
Familial multiple polyposis syndrome
Condition: not provided
not specified
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA007632

rs_192620988

17 SubmittersRCV000122764 RCV000131163 RCV000348086 RCV000238728 RCV000587302 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
Familial multiple polyposis syndrome
Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Gastric adenocarcinoma and proximal polyposis of the stomach
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA007712

rs_587780593

11 SubmittersRCV000122768 RCV000485846 RCV000664308 RCV000574171 RCV001157044 RCV003325185 RCV003997374

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

SNV
Germline

Chr5:112839222

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

CA008571

rs_145181563

6 SubmittersRCV000129238 RCV001357972 RCV003997376 RCV002515908

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
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009397

rs_200166878

9 SubmittersRCV000122779 RCV000235379 RCV000575531 RCV001193569 RCV003997378

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

8 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
Carcinoma of colon
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009818

rs_202228932

17 SubmittersRCV000122783 RCV000128987 RCV000236885 RCV001353632 RCV000586353

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

SNV
Germline

Chr5:112840734

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009886

rs_148275069

15 SubmittersRCV000122784 RCV000129088 RCV000479916 RCV000587086 RCV001157159 RCV003389701

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

SNV
Germline

Chr5:112841395

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010706

rs_587780600

16 SubmittersRCV000122787 RCV000211923 RCV000210078 RCV000210900 RCV000159562 RCV000764567 RCV001155575 RCV000656747 RCV003398739

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
APC-Associated Polyposis Disorders
Condition: not provided
APC-related disorder
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA012738

rs_146048493

14 SubmittersRCV000131625 RCV000148359 RCV000211933 RCV000987581 RCV001151806 RCV001719892 RCV003905173 RCV003153405

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

SNV
Germline

Chr5:112843219

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

CA013956

rs_151163793

11 SubmittersRCV000122802 RCV000235882 RCV000575243 RCV000766452 RCV003997387

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

SNV
Germline

Chr5:112801326

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014042

rs_147704593

14 SubmittersRCV000123678 RCV000211894 RCV001353450 RCV000759445 RCV001151508 RCV004019702 RCV003997388

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

7 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
Hereditary cancer-predisposing syndrome
Condition: not provided
APC-Associated Polyposis Disorders
not specified
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA014501

rs_146115809

16 SubmittersRCV000122809 RCV000148374 RCV000493019 RCV000587542 RCV001157355 RCV001549270 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
Ovarian cancer
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA015623

rs_587780611

8 SubmittersRCV000213708 RCV001192830 RCV003153407 RCV001778740 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

14 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
Neoplasm of stomach
Pilomatrixoma
Familial adenomatous polyposis 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA012424

rs_587780744

11 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

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

Criteria Provided
Conflicting Classifications

CA013355

rs_587780746

13 SubmittersRCV000123149 RCV000131617 RCV000609799 RCV000759161

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

SNV
Germline

Chr1:45332479

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014145

rs_200165598

17 SubmittersRCV000123153 RCV000131773 RCV000212704 RCV000586141

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

SNV
Germline

Chr1:45332443

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014236

rs_587780749

13 SubmittersRCV000123154 RCV000131615 RCV000212707 RCV001292933

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

SNV
Germline

Chr1:45332163

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014676

rs_587780751

26 SubmittersRCV000123158 RCV000212711 RCV000129539 RCV000626760 RCV001353438 RCV004542929

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

not specified
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA013081

rs_367908623

6 SubmittersRCV000126889 RCV000409930 RCV000579849

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
Familial adenomatous polyposis 2
Gastric cancer
not specified

Criteria Provided
Conflicting Classifications

CA012406

rs_373803765

8 SubmittersRCV000128948 RCV000461545 RCV001582599 RCV002478383 RCV003235050

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

SNV
Germline

Chr5:112843062

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013697

rs_538230198

13 SubmittersRCV000128974 RCV000409539 RCV000481415 RCV000656750 RCV001731385 RCV003997468 RCV003407537

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

6 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
Condition: not provided
not specified
MUTYH-related disorder

Criteria Provided
Conflicting Classifications

CA013648

rs_564930066

12 SubmittersRCV000129002 RCV000204817 RCV000656908 RCV000481844 RCV004532541

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

SNV
Germline

Chr1:45331440

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012561

rs_141432759

7 SubmittersRCV000129005 RCV000410796 RCV000587968 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

Criteria Provided
Multiple Submitters
No Conflicts

CA013297

rs_138775799

11 SubmittersRCV000129018 RCV000235267 RCV000471769

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
Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA014709

rs_587781338

5 SubmittersRCV000129103 RCV000478448 RCV000527702

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
Neoplasm of stomach
Familial adenomatous polyposis 2
Pilomatrixoma
Breast carcinoma
Carcinoma of colon
Diffuse midline glioma, H3 K27-altered
MUTYH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA014226

rs_140342925

27 SubmittersRCV000129105 RCV000196778 RCV000212706 RCV000515198 RCV001262379 RCV001353906 RCV003313780 RCV004532545

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

SNV
Germline

Chr5:112839649

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008875

rs_528724202

9 SubmittersRCV000129128 RCV000483615 RCV000646425 RCV001704052 RCV003153412 RCV003997481

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

SNV
Germline

Chr5:112840851

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009970

rs_587781350

7 SubmittersRCV000129133 RCV003997484 RCV002514711

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

7 SubmittersRCV000129152 RCV000211901 RCV001778746 RCV002514712 RCV003997485

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

SNV
Germline

Chr5:112780895

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA011131

rs_587781392

9 SubmittersRCV000129233 RCV000202175 RCV000763535 RCV001353439 RCV000825611 RCV002512529

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

Criteria Provided
Conflicting Classifications

CA010025

rs_529543591

7 SubmittersRCV000129346 RCV000206391 RCV000677788

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
Condition: not provided
not specified
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA007779

rs_587781500

9 SubmittersRCV000129473 RCV000483264 RCV000779714 RCV002514719 RCV003997504

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

SNV
Germline

Chr1:45332179

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014631

rs_140156029

9 SubmittersRCV000129507 RCV000484904 RCV000467096 RCV000586807

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
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA008897

rs_139618756

14 SubmittersRCV000129585 RCV000167896 RCV000211912 RCV000588058 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

Criteria Provided
Conflicting Classifications

CA015607

rs_201093383

9 SubmittersRCV000129720 RCV000211896 RCV000229223 RCV002478388 RCV003997520

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

14 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
not specified
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA008695

rs_587781637

11 SubmittersRCV000129750 RCV000211911 RCV000412401 RCV001818303 RCV003407543 RCV003997521

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

Criteria Provided
Conflicting Classifications

CA015444

rs_147287751

16 SubmittersRCV000129949 RCV000198030 RCV000283075 RCV000515282 RCV000656753 RCV002267871

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

SNV
Germline

Chr5:112766412

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA007244

rs_587781809

9 SubmittersRCV000130080 RCV000202191 RCV000503701 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

11 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

10 SubmittersRCV000130090 RCV000195856 RCV000485276 RCV001797633 RCV003997549

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

SNV
Germline

Chr1:45332791

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013822

rs_587781864

9 SubmittersRCV000130180 RCV000456187 RCV000519177

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
Carcinoma of colon
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
Desmoid disease, hereditary
APC-Associated Polyposis Disorders
not specified

Criteria Provided
Conflicting Classifications

CA012330

rs_35540155

11 SubmittersRCV000130211 RCV000409211 RCV000484737 RCV000765788 RCV001157265 RCV002222403

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

Criteria Provided
Conflicting Classifications

CA008564

rs_201185479

11 SubmittersRCV000130302 RCV000198440 RCV000236652 RCV001154640 RCV003479014 RCV003492599 RCV003998054

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

SNV
Germline

Chr5:112843870

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014525

rs_538289470

9 SubmittersRCV000130304 RCV000765791 RCV001549810 RCV002469020 RCV003430706 RCV003764867 RCV003998055

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

2 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

Criteria Provided
Conflicting Classifications

CA012188

rs_62619935

2 SubmittersRCV000130641 RCV003764868

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

SNV
Germline

Chr5:112775655

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009591

rs_371085910

16 SubmittersRCV000130643 RCV000148370 RCV000206082 RCV000211892 RCV000656744 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.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
Condition: not provided
Familial adenomatous polyposis 1
not specified
APC-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA012319

rs_186926737

11 SubmittersRCV000130848 RCV000236813 RCV000409644 RCV001174857 RCV003905234 RCV003492605

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

8 SubmittersRCV000131175 RCV000686573 RCV001353717

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

SNV
Germline

Chr19:1223076

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA022150

rs_587782302

14 SubmittersRCV000131186 RCV000222337 RCV000168376 RCV000765433 RCV001354464 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
APC-Associated Polyposis Disorders
not specified
Hereditary cancer
Diffuse midline glioma, H3 K27-altered
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009730

rs_72541813

17 SubmittersRCV000131191 RCV000211915 RCV000232313 RCV001157157 RCV001818321 RCV003492615 RCV003325188 RCV003998088

NM_000038.6(APC):c.5274T>A (p.Ser1758=)

SNV
Germline

Chr5:112840868

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010018

rs_199600387

15 SubmittersRCV000131241 RCV000198344 RCV000502224 RCV000679064

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

Criteria Provided
Conflicting Classifications

CA008168

rs_375408871

9 SubmittersRCV000131243 RCV000230602 RCV000758727 RCV003998093

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

Criteria Provided
Conflicting Classifications

CA009806

rs_373440614

14 SubmittersRCV000131255 RCV000148368 RCV000587871 RCV001175337 RCV003998094

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

Criteria Provided
Conflicting Classifications

CA015555

rs_149154604

11 SubmittersRCV000131302 RCV000167872 RCV000211895 RCV000779725 RCV003925279

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

Criteria Provided
Conflicting Classifications

CA012458

rs_563275223

5 SubmittersRCV000131452 RCV000824066 RCV001194163

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

14 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
Colorectal cancer, susceptibility to
Familial adenomatous polyposis 1
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA012371

rs_367905430

13 SubmittersRCV000131588 RCV000211929 RCV000210106 RCV000234415 RCV000590651 RCV003998109

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

Criteria Provided
Conflicting Classifications

CA012624

rs_587782564

5 SubmittersRCV000131785 RCV000462220 RCV000579114

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

SNV
Germline

Chr1:45331529

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Carcinoma of colon
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

24 SubmittersRCV000131914 RCV000191934 RCV000144633 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
not specified
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA009471

rs_587782678

7 SubmittersRCV000132104 RCV000590671 RCV002265621 RCV003998132 RCV002514750

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

Criteria Provided
Conflicting Classifications

CA014653

rs_587782727

3 SubmittersRCV000132221 RCV000640388

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

3 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_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)

SNV
Germline

Chr1:45332440

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA014247

rs_587782885

15 SubmittersRCV000144630 RCV000132522 RCV000236829 RCV000500909 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
Condition: not provided
not specified
APC-related disorder

Criteria Provided
Conflicting Classifications

CA004061

rs_587782886

10 SubmittersRCV000132523 RCV000168435 RCV000586652 RCV000722127 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

6 SubmittersRCV000144563 RCV000202095 RCV000563288

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

SNV
Germline

Chr5:112828914

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

CA005437

rs_587783034

9 SubmittersRCV000144570 RCV000222854 RCV000485323 RCV000766534 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

Criteria Provided
Conflicting Classifications

CA013809

rs_587783036

10 SubmittersRCV000144574 RCV000572226 RCV000759443 RCV003492634 RCV003998160

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

17 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

Criteria Provided
Conflicting Classifications

CA014753

rs_558173961

10 SubmittersRCV000213585 RCV000552627 RCV000766300 RCV001844058

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

SNV
Germline

Chr1:45332181

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014594

rs_730881834

7 SubmittersRCV000160756 RCV000474320 RCV000573806

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

Criteria Provided
Multiple Submitters
No Conflicts

CA014470

rs_730881833

13 SubmittersRCV000160754 RCV000191933 RCV000221854 RCV003162678

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
Familial adenomatous polyposis 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA014186

rs_369120013

8 SubmittersRCV000160753 RCV000458598 RCV000656909 RCV003987380

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

SNV
Germline

Chr1:45332794

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA013795

rs_143353451

15 SubmittersRCV000160752 RCV000214896 RCV000200700 RCV000508179 RCV002478487 RCV004535046

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

Criteria Provided
Multiple Submitters
No Conflicts

CA013507

rs_730881832

8 SubmittersRCV000160751 RCV000212700 RCV000701601

NM_025077.4(TOE1):c.-54G>T

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 adenomatous polyposis 1
Familial multiple polyposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007872

rs_376213437

8 SubmittersRCV000159585 RCV001016886 RCV002515106 RCV003323417

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

SNV
Germline

Chr5:112767264

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

CA007959

rs_199842850

10 SubmittersRCV000197478 RCV000491566 RCV000585993 RCV003998427

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
Familial adenomatous polyposis 1
not specified
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 RCV000199795 RCV000211893 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

Criteria Provided
Conflicting Classifications

CA015653

rs_730881231

10 SubmittersRCV000159528 RCV000217691 RCV000466236 RCV000779736 RCV003998401

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

Criteria Provided
Conflicting Classifications

CA004108

rs_730881233

13 SubmittersRCV000159530 RCV000227001 RCV000568544 RCV000779739 RCV002484993 RCV003998402

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.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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA007124

rs_730881240

5 SubmittersRCV000159538 RCV003380497 RCV004562320

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

Criteria Provided
Conflicting Classifications

CA008176

rs_730881244

11 SubmittersRCV000159547 RCV000211907 RCV000234536 RCV002307414

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

SNV
Germline

Chr5:112838941

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

CA008298

rs_730881224

6 SubmittersRCV000159511 RCV001020050 RCV003998393 RCV004562314

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
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA008372

rs_201550951

11 SubmittersRCV000159549 RCV000211910 RCV000586988 RCV001818351 RCV003998412 RCV004562323

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

SNV
Germline

Chr5:112839667

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008903

rs_730881249

10 SubmittersRCV000159553 RCV000210103 RCV000235095 RCV000998414 RCV004562326

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
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA010991

rs_150140908

7 SubmittersRCV000218693 RCV000759438 RCV002516404 RCV003998396

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

SNV
Germline

Chr5:112842120

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012274

rs_183468041

15 SubmittersRCV000159522 RCV000211925 RCV000282259 RCV000587270 RCV001356057 RCV004562317

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

Criteria Provided
Conflicting Classifications

CA012361

rs_374597207

7 SubmittersRCV000159566 RCV000575448 RCV002265632 RCV003998418 RCV004562328

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

Criteria Provided
Conflicting Classifications

CA012407

rs_730881256

10 SubmittersRCV000204441 RCV000216441 RCV000656749 RCV003998419

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

Criteria Provided
Conflicting Classifications

CA012891

rs_730881257

12 SubmittersRCV000159568 RCV000219951 RCV000409928 RCV001192797 RCV003998420

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
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA012961

rs_730881260

10 SubmittersRCV000159571 RCV000573375 RCV000590001 RCV003998421 RCV002516417

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
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA013892

rs_730881265

7 SubmittersRCV000159576 RCV000211935 RCV000656751 RCV002516419 RCV003998423

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

SNV
Germline

Chr5:112843701

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014335

rs_730881270

11 SubmittersRCV000159581 RCV000322812 RCV000525703 RCV000575937 RCV002307415 RCV003998426

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

SNV
Germline

Chr1:45329389

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013050

rs_147480076

11 SubmittersRCV000165016 RCV000229869 RCV000679426 RCV001175587 RCV004528913

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

SNV
Germline

Chr1:45329408

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012995

rs_143796254

13 SubmittersRCV000163840 RCV000427252 RCV000586077 RCV001084408 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

Criteria Provided
Conflicting Classifications

CA012892

rs_140288388

15 SubmittersRCV000166725 RCV000470920 RCV000506630 RCV001358548

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

Criteria Provided
Conflicting Classifications

CA012415

rs_786202141

3 SubmittersRCV000164805 RCV000226921

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

Criteria Provided
Conflicting Classifications

CA012294

rs_201412035

8 SubmittersRCV000163226 RCV000205649 RCV001706072

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
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA012034

rs_372673338

11 SubmittersRCV000165812 RCV000255834 RCV000459930 RCV000584863

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.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

8 SubmittersRCV000165997 RCV000640360 RCV003320586 RCV003441765

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

SNV
Germline

Chr1:45332213

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014567

rs_778782508

10 SubmittersRCV000163056 RCV000198018 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

20 SubmittersRCV000164625 RCV000235921 RCV000456980 RCV001353603 RCV001554252

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

SNV
Germline

Chr1:45332300

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA014333

rs_786203115

9 SubmittersRCV000166279 RCV000198325 RCV003162709 RCV003223616

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

SNV
Germline

Chr1:45332458

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA014196

rs_34126013

17 SubmittersRCV000164664 RCV000235834 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

8 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

9 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

7 SubmittersRCV000164867 RCV000799235 RCV001770127 RCV003320581

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

SNV
Germline

Chr1:45332795

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013785

rs_747993448

18 SubmittersRCV000166998 RCV000229525 RCV000236750 RCV003153454 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

8 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.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

8 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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013324

rs_748170941

14 SubmittersRCV000164326 RCV000196257 RCV000523882

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

11 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

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified

Criteria Provided
Conflicting Classifications

CA011725

rs_760321509

6 SubmittersRCV000166419 RCV000466932 RCV002307426

NM_000038.6(APC):c.70C>T (p.Arg24Ter)

SNV
Germline

Chr5:112754960

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA012843

rs_145945630

16 SubmittersRCV000164002 RCV000227124 RCV000482864 RCV000508297 RCV000763534 RCV000844605 RCV001353710 RCV003162685 RCV003995307

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

SNV
Germline

Chr5:112766371

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

CA006037

rs_786201989

5 SubmittersRCV000164557 RCV001697165 RCV003995350 RCV004567246

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

Criteria Provided
Multiple Submitters
No Conflicts

CA007277

rs_786201291

6 SubmittersRCV000163246 RCV000480238 RCV003995243 RCV004562337

NM_000038.6(APC):c.564A>G (p.Gln188=)

SNV
Germline

Chr5:112780822

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010565

rs_377493489

9 SubmittersRCV000163065 RCV000428165 RCV000469275 RCV003995231

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
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA013925

rs_746850663

8 SubmittersRCV000165035 RCV002281064 RCV003965208 RCV004562355

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

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

Reviewed By Expert Panel

CA015543

rs_786201856

12 SubmittersRCV000164351 RCV000202113 RCV000501350 RCV000763538 RCV001353622 RCV002517615 RCV001789763

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

SNV
Germline

Chr5:112819026

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA016038

rs_775126020

13 SubmittersRCV000164280 RCV000202243 RCV000460182 RCV000503333 RCV002498813

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

SNV
Germline

Chr5:112819153

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004057

rs_141582813

11 SubmittersRCV000164563 RCV000239027 RCV000544500 RCV001353563 RCV003995351 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

Criteria Provided
Conflicting Classifications

CA004248

rs_371065509

2 SubmittersRCV000165915 RCV004562362

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

SNV
Germline

Chr5:112828951

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA005478

rs_786201277

7 SubmittersRCV000163224 RCV000421864 RCV000317916 RCV003995240 RCV002515127

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

Criteria Provided
Conflicting Classifications

CA007300

rs_150209825

12 SubmittersRCV000163857 RCV000197204 RCV000236573 RCV001193496 RCV003995289

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.2805C>G (p.Tyr935Ter)

SNV
Germline

Chr5:112838399

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA007811

rs_137854575

7 SubmittersRCV000165582 RCV000202153 RCV000500049 RCV003137694 RCV004562359

NM_000038.6(APC):c.2948T>C (p.Ile983Thr)

SNV
Germline

Chr5:112838542

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA007931

rs_113674464

4 SubmittersRCV000164561 RCV000466750

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
Condition: not provided
APC-Associated Polyposis Disorders
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA008612

rs_377640390

10 SubmittersRCV000167240 RCV000233583 RCV000483908 RCV001154641 RCV001553558 RCV003995576

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
APC-related disorder
Classic or attenuated familial adenomatous polyposis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA008747

rs_746289994

10 SubmittersRCV000163132 RCV000409994 RCV000607365 RCV003945263 RCV003995236 RCV003477585

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

8 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
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009538

rs_375380414

9 SubmittersRCV000165744 RCV000210169 RCV000607446 RCV000985303 RCV002516489 RCV003995448

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

SNV
Germline

Chr5:112840128

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009616

rs_778699501

7 SubmittersRCV000166273 RCV000236286 RCV001155477 RCV001704215 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
Carcinoma of colon
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
Desmoid disease, hereditary
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009865

rs_769273526

11 SubmittersRCV000163348 RCV000231340 RCV000758732 RCV000764565 RCV002267901 RCV003995246

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

Criteria Provided
Conflicting Classifications

CA009933

rs_769558291

10 SubmittersRCV000163875 RCV000205541 RCV000589784 RCV003233477 RCV003995292

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
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA010734

rs_746346292

9 SubmittersRCV000164466 RCV000206414 RCV000483817 RCV000779706 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
Carcinoma of colon
Condition: not provided
APC-related disorder
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA010787

rs_754691867

13 SubmittersRCV000167000 RCV000455669 RCV000677738 RCV001358361 RCV002260627 RCV003975238 RCV004562375 RCV003995547

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

Criteria Provided
Conflicting Classifications

CA010933

rs_372418435

11 SubmittersRCV000163274 RCV000236184 RCV000232978 RCV000656748 RCV001353588

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

SNV
Germline

Chr5:112842040

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

CA011185

rs_749230730

12 SubmittersRCV000164369 RCV000236978 RCV000545398 RCV000679080 RCV003995337

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

SNV
Germline

Chr5:112842303

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA012440

rs_768922431

8 SubmittersRCV000167356 RCV000237046 RCV002515179 RCV004017447

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
not specified
Condition: not provided
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA013665

rs_375586273

14 SubmittersRCV000163734 RCV000234737 RCV000779738 RCV001310857 RCV003995277 RCV003398835

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

11 SubmittersRCV000164075 RCV000226636 RCV000483633 RCV001582644 RCV003995310 RCV003937504

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

SNV
Germline

Chr5:112843523

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

CA014191

rs_138796072

14 SubmittersRCV000164877 RCV000230717 RCV000441754 RCV000858816 RCV001155674 RCV003995372

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

Criteria Provided
Conflicting Classifications

CA014315

rs_761326128

10 SubmittersRCV000163313 RCV000205888 RCV000260617 RCV000602636 RCV003995245

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

8 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
APC-Associated Polyposis Disorders
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA012234

rs_76685252

11 SubmittersRCV000168256 RCV000364207 RCV000563625 RCV000480784 RCV003987392 RCV003491922

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

Criteria Provided
Multiple Submitters
No Conflicts

CA004112

rs_559510809

3 SubmittersRCV000168200 RCV002444673

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

SNV
Germline

Chr5:112837834

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

CA007315

rs_773020689

8 SubmittersRCV000218100 RCV000484713 RCV002291585 RCV003995610

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

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

Criteria Provided
Conflicting Classifications

CA009735

rs_72541813

8 SubmittersRCV000508130 RCV000565123 RCV001589045 RCV003995599 RCV004567358

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

SNV
Germline

Chr5:112842787

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

CA012909

rs_150882838

13 SubmittersRCV000168076 RCV000486411 RCV000491288 RCV000657134 RCV003995605

NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)

SNV
Germline

Chr16:2046238

Pathogenic

Familial adenomatous polyposis 3
Hereditary cancer-predisposing syndrome
Condition: not provided
NTHL1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA200196

rs_150766139

31 SubmittersRCV000172911 RCV000850062 RCV000657657 RCV003416065

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

SNV
Germline/somatic

Chr5:112839942

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA009465

rs_121913332

12 SubmittersRCV000174977 RCV000441954 RCV000486553 RCV000494198 RCV000659277 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

Criteria Provided
Conflicting Classifications

CA339462

rs_587780744

4 SubmittersRCV000200655 RCV000220875 RCV001574187

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

Criteria Provided
Conflicting Classifications

CA059733

rs_751875215

6 SubmittersRCV000199615 RCV000217274 RCV004530193

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_000038.6(APC):c.309A>G (p.Val103=)

SNV
Germline

Chr5:112767277

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

CA336102

rs_863224279

5 SubmittersRCV001018605 RCV003477651 RCV003765264 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
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA026723

rs_201478136

4 SubmittersRCV000581511 RCV002469059 RCV004562406

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
Desmoid disease, hereditary
Carcinoma of colon
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA028603

rs_138098808

10 SubmittersRCV000199835 RCV000217491 RCV000235744 RCV000656746 RCV000764561

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

12 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA338207

rs_121913333

15 SubmittersRCV000236362 RCV000438475 RCV000492041 RCV000500904 RCV001000185 RCV002288811

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
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA035367

rs_202168805

9 SubmittersRCV000236811 RCV000491194 RCV001553560 RCV003996973 RCV004562408

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
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA339368

rs_863224285

8 SubmittersRCV000570509 RCV000608378 RCV001357058 RCV003996942 RCV004562403

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

Criteria Provided
Conflicting Classifications

CA049665

rs_767286063

8 SubmittersRCV000202229 RCV000572076 RCV000766698 RCV002500621 RCV002515464

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
not specified
Desmoid disease, hereditary
Carcinoma of colon
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA050869

rs_780049836

10 SubmittersRCV000196318 RCV000478701 RCV000567493 RCV000779724 RCV000765792 RCV003996983

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

13 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

7 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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279764

rs_863225311

15 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
Unknown

Chr5:112827132

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA279696

rs_863225314

2 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
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279753

rs_863225347

8 SubmittersRCV000202149 RCV000490989 RCV002298521 RCV003982949 RCV004562426

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
Atypical endometrial hyperplasia
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279766

rs_863225357

5 SubmittersRCV000202166 RCV003327380 RCV002519589

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

SNV
Germline

Chr5:112843105

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA248496

rs_755046558

7 SubmittersRCV000201984 RCV002517338

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_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
Gastric cancer
Familial adenomatous polyposis 2
MUTYH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA056613

rs_587782228

12 SubmittersRCV000204688 RCV000215469 RCV000479402 RCV002503805 RCV004530223

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

SNV
Germline

Chr1:45332020

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA350688

rs_864622394

4 SubmittersRCV000206689 RCV000567027 RCV003477689

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

3 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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA055629

rs_560905645

9 SubmittersRCV000204226 RCV000220830 RCV000985858 RCV000781623

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

SNV
Germline

Chr5:112767330

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA036020

rs_193049694

5 SubmittersRCV000570345 RCV003997627 RCV004563134

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

SNV
Germline

Chr5:112827969

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

CA028518

rs_202199891

12 SubmittersRCV000206690 RCV000235972 RCV000566249 RCV000657022 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
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA348575

rs_535344579

6 SubmittersRCV000204328 RCV000478187 RCV000565056 RCV003491951

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
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA349100

rs_374380039

8 SubmittersRCV000204913 RCV000573936 RCV003997561

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

SNV
Germline

Chr5:112838917

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA035035

rs_151286353

10 SubmittersRCV000236966 RCV000571447 RCV001264579 RCV003967554 RCV004567480

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

SNV
Germline

Chr5:112841306

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA042729

rs_755851369

5 SubmittersRCV000491966 RCV001152939 RCV002465562 RCV003765319

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

SNV
Germline

Chr5:112841346

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA042868

rs_776966222

9 SubmittersRCV000204791 RCV000481360 RCV000574367 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
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA047064

rs_756153152

6 SubmittersRCV000236701 RCV000568621 RCV003468948 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

Colorectal cancer, susceptibility to
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA353493

rs_869312753

3 SubmittersRCV000210089 RCV000501976 RCV004563140

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.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

Criteria Provided
Conflicting Classifications

CA059784

rs_765686051

6 SubmittersRCV000219497 RCV000540135 RCV001551196

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
Familial adenomatous polyposis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10577723

rs_587778534

6 SubmittersRCV000223375 RCV001220277 RCV001800559

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

7 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
not specified

Criteria Provided
Conflicting Classifications

CA10577733

rs_876658641

5 SubmittersRCV000222177 RCV000471395 RCV001264555

NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)

SNV
Germline

Chr1:45332955

Pathogenic/Likely 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

11 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

5 SubmittersRCV000216618 RCV000485126 RCV000707329

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

SNV
Germline

Chr1:45333171

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10577740

rs_372267274

14 SubmittersRCV000221410 RCV000230931 RCV000763342 RCV000478994 RCV001353991

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

Criteria Provided
Conflicting Classifications

CA10577741

rs_876660615

6 SubmittersRCV000218591 RCV000559697

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
not specified

Criteria Provided
Conflicting Classifications

CA057160

rs_558707786

7 SubmittersRCV000220679 RCV000505782 RCV001219416 RCV001354525 RCV001420901

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

6 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_025077.4(TOE1):c.-37T>A

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
Familial adenomatous polyposis 1
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA032367

rs_143145868

6 SubmittersRCV000220182 RCV003462427 RCV003417782 RCV003997815

NM_000038.6(APC):c.266C>G (p.Ser89Ter)

SNV
Germline

Chr5:112767234

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578287

rs_876658846

4 SubmittersRCV000221332 RCV000767384

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

7 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

Criteria Provided
Multiple Submitters
No Conflicts

CA10578293

rs_876658325

5 SubmittersRCV000221156 RCV001269625 RCV003765401

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.933+1G>A

SNV
Germline

Chr5:112815594

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
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

6 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.1342C>G (p.Pro448Ala)

SNV
Germline

Chr5:112821925

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA027206

rs_374195067

7 SubmittersRCV000219615 RCV001575306 RCV003417795 RCV002516173 RCV003998591

NM_000038.6(APC):c.1417C>T (p.Gln473Ter)

SNV
Germline

Chr5:112827116

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578316

rs_876658868

3 SubmittersRCV000219498 RCV002519679

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
Carcinoma of colon
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA028394

rs_371453363

8 SubmittersRCV000221284 RCV000461223 RCV000764560 RCV001284232

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
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA029022

rs_747418061

7 SubmittersRCV000213578 RCV000779711 RCV001572567 RCV003998557 RCV004567640

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.1902T>G (p.Ser634Arg)

SNV
Germline

Chr5:112835109

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10578330

rs_876659460

3 SubmittersRCV000222920 RCV004563183

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
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA032224

rs_186641437

7 SubmittersRCV000220641 RCV000485918 RCV000764563 RCV001174911 RCV002515684

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
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA10578343

rs_876660004

5 SubmittersRCV000220564 RCV002515681 RCV003477749 RCV003998003

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.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

10 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

Criteria Provided
Conflicting Classifications

CA10578361

rs_876659190

3 SubmittersRCV000223153 RCV004563173

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

Criteria Provided
Conflicting Classifications

CA037222

rs_752926571

8 SubmittersRCV000219449 RCV000485020 RCV001818536 RCV003997998 RCV004563195

NM_000038.6(APC):c.4139C>T (p.Thr1380Ile)

SNV
Germline

Chr5:112839733

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10578369

rs_876660713

3 SubmittersRCV000223239 RCV000522947 RCV004567660

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
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA038928

rs_756048549

7 SubmittersRCV000214073 RCV000461981 RCV003477717 RCV003997841

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
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA040178

rs_201797422

5 SubmittersRCV000213972 RCV000348692 RCV004525836 RCV004567582

NM_000038.6(APC):c.5038C>T (p.Gln1680Ter)

SNV
Germline

Chr5:112840632

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10578390

rs_754122018

5 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

Criteria Provided
Conflicting Classifications

CA10578397

rs_876660114

3 SubmittersRCV000221896 RCV004563199

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
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA041747

rs_764203580

8 SubmittersRCV000218908 RCV000457479 RCV001797685 RCV003126614 RCV003998563

NM_000038.6(APC):c.5424C>T (p.Asn1808=)

SNV
Germline

Chr5:112841018

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA041957

rs_747721259

7 SubmittersRCV000216012 RCV001152937 RCV001545827 RCV004567579

NM_000038.6(APC):c.5465T>G (p.Val1822Gly)

SNV
Germline

Chr5:112841059

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10578404

rs_459552

5 SubmittersRCV000216852 RCV000589084 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
Familial adenomatous polyposis 1
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA042221

rs_754648125

7 SubmittersRCV000215089 RCV000235925 RCV000271229 RCV002515673 RCV003947727 RCV003997982

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.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

Criteria Provided
Conflicting Classifications

CA044469

rs_753228011

3 SubmittersRCV000213966 RCV001562688 RCV004567629

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

10 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

4 SubmittersRCV000214601 RCV000605613 RCV003407747 RCV004563145

NM_000038.6(APC):c.7471A>G (p.Met2491Val)

SNV
Germline

Chr5:112843065

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA048161

rs_375674083

10 SubmittersRCV000222149 RCV000232400 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

Criteria Provided
Conflicting Classifications

CA048192

rs_769889352

7 SubmittersRCV000214237 RCV000481205 RCV000780839 RCV002519728

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

6 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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10581802

rs_376790729

10 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_001128425.2(MUTYH):c.179A>G (p.Glu60Gly)

SNV
Germline

Chr1:45333582

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10581813

rs_878854187

4 SubmittersRCV000231159 RCV000567365

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_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

Criteria Provided
Conflicting Classifications

CA033407

rs_201567345

12 SubmittersRCV000233150 RCV000491761 RCV000657055 RCV001818550 RCV003998663

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
Colon cancer
APC-Associated Polyposis Disorders
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA048563

rs_772806807

13 SubmittersRCV000229496 RCV000562662 RCV000677749 RCV001156936 RCV001193538 RCV003477779

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

8 SubmittersRCV000574604 RCV001192799 RCV001699072 RCV003401163 RCV003998691 RCV004563264

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

Criteria Provided
Multiple Submitters
No Conflicts

CA029187

rs_761458613

5 SubmittersRCV000484492 RCV002399804 RCV003401162 RCV002519767

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

Criteria Provided
Conflicting Classifications

CA10582297

rs_878853427

3 SubmittersRCV002429085 RCV003998660 RCV004567692

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

Neoplasm of the large intestine
Lung adenocarcinoma
Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Carcinoma of colon
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10582306

rs_121913331

12 SubmittersRCV000424284 RCV000434269 RCV000491362 RCV000501152 RCV001353812 RCV001723814 RCV002516270

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
6 conditions
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA10582320

rs_759441332

13 SubmittersRCV000233240 RCV000567766 RCV000590193 RCV002487042 RCV003998672

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

9 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
Hereditary cancer-predisposing syndrome
Condition: not provided
6 conditions
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA10582324

rs_752038930

12 SubmittersRCV000230741 RCV000573026 RCV000586532 RCV002487043 RCV003998675

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

8 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

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

Criteria Provided
Conflicting Classifications

CA043598

rs_774815653

8 SubmittersRCV000227428 RCV000571074 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

5 SubmittersRCV000573483 RCV001151802 RCV003998682 RCV004563255

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

8 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

9 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

8 SubmittersRCV000227563 RCV000582018 RCV001559106 RCV001731536 RCV003998693

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

Criteria Provided
Conflicting Classifications

CA10582345

rs_878853476

3 SubmittersRCV001017724 RCV004563268

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10584052

rs_879253783

8 SubmittersRCV000234996 RCV001013699 RCV001290975 RCV001559545

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10584053

rs_879253784

4 SubmittersRCV001290976 RCV001552789 RCV002411065 RCV004567771

NM_001127511.3(APC):c.-192A>T

SNV
Germline

Chr5:112707526

Pathogenic

Familial adenomatous polyposis 1

No Assertion Criteria Provided

CA10584054

rs_879253784

1 SubmittersRCV000234988

NM_001127511.3(APC):c.-190G>A

SNV
Germline

Chr5:112707528

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Periampullary adenoma

Criteria Provided
Multiple Submitters
No Conflicts

CA10584055

rs_879253785

5 SubmittersRCV000234994 RCV004020915 RCV004020914

NM_001048174.2(MUTYH):c.806G>A (p.Cys269Tyr)

SNV
Germline

Chr1:45332209

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10584149

rs_879254257

5 SubmittersRCV000236614 RCV000813716 RCV001186972

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_025077.4(TOE1):c.-38G>C

SNV
Germline

Chr1:45340215

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA089489

rs_774530388

7 SubmittersRCV000237070 RCV000766680 RCV001020693 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

Criteria Provided
Multiple Submitters
No Conflicts

CA10584237

rs_863224281

7 SubmittersRCV000236674 RCV001023029 RCV001844100 RCV002519826

NM_000038.6(APC):c.646-8T>A

SNV
Germline

Chr5:112792438

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10584238

rs_879254149

5 SubmittersRCV000236430 RCV000771392 RCV002518445 RCV003998915

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
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA047252

rs_777603154

8 SubmittersRCV000236387 RCV000573590 RCV000779732 RCV003998893 RCV004563270

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

6 SubmittersRCV000236999 RCV000491475 RCV000501897 RCV002519828

NM_000038.6(APC):c.1958+3A>G

SNV
Germline

Chr5:112835168

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10584242

rs_879254032

7 SubmittersRCV000235895 RCV000659274 RCV002418039 RCV004563272

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
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA036283

rs_573020080

4 SubmittersRCV000236719 RCV001020894 RCV003765467 RCV003998894

NM_000038.6(APC):c.4735A>T (p.Ile1579Phe)

SNV
Germline

Chr5:112840329

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

CA10584253

rs_587781935

4 SubmittersRCV000235893 RCV002338775 RCV003998926 RCV004563283

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

Criteria Provided
Conflicting Classifications

CA045646

rs_374464049

10 SubmittersRCV000236846 RCV000564209 RCV000657112 RCV002518460 RCV003998921

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

Criteria Provided
Conflicting Classifications

CA049793

rs_757901425

10 SubmittersRCV000236452 RCV000561345 RCV000779729 RCV002518420 RCV003998895

NM_000038.6(APC):c.8402G>A (p.Arg2801Gln)

SNV
Germline

Chr5:112843996

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

CA050715

rs_754363694

8 SubmittersRCV000235635 RCV000581244 RCV003998899 RCV002518425

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
Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA10586320

rs_866260675

6 SubmittersRCV000240037 RCV000801200 RCV001015164 RCV003463710

NM_000038.6(APC):c.136-2A>G

SNV
Germline

Chr5:112766324

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10588375

rs_886039625

2 SubmittersRCV000254746 RCV002518766

NM_000038.6(APC):c.1312+5G>C

SNV
Germline

Chr5:112819349

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10588378

rs_886039507

3 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

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602909

rs_587779798

4 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

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA10611140

rs_886046367

2 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
6 conditions
not specified
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA043314

rs_773776516

8 SubmittersRCV000332846 RCV000567246 RCV002480220 RCV003320183 RCV003995884 RCV004563302

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

4 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
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10622257

rs_886059794

5 SubmittersRCV000393847 RCV001019268 RCV003995881 RCV004563300

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

Criteria Provided
Conflicting Classifications

CA043197

rs_575724078

6 SubmittersRCV000362266 RCV000775335 RCV001821073 RCV002520290 RCV003317196

NM_000038.6(APC):c.6492C>T (p.Gly2164=)

SNV
Germline

Chr5:112842086

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA045015

rs_765332758

7 SubmittersRCV000331768 RCV000491294 RCV000425863 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.914-27G>A

SNV
Germline

Chr1:45331876

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA059998

rs_188830619

3 SubmittersRCV000412157 RCV000500199 RCV002264934

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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA058602

rs_752537118

10 SubmittersRCV000411478 RCV000500658 RCV000584440 RCV001529071 RCV002264933

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

Criteria Provided
Conflicting Classifications

CA059369

rs_770241997

4 SubmittersRCV000410042 RCV002465647 RCV003418089

NM_001127511.3(APC):c.122C>T (p.Pro41Leu)

SNV
Germline

Chr5:112707839

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16042079

rs_1057517584

2 SubmittersRCV000410173

NM_001127511.3(APC):c.125G>A (p.Gly42Asp)

SNV
Germline

Chr5:112707842

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
APC-related disorder

Criteria Provided
Conflicting Classifications

CA16042081

rs_1057517570

3 SubmittersRCV000409742 RCV003892008

NM_001127511.3(APC):c.130G>A (p.Ala44Thr)

SNV
Germline

Chr5:112707847

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA053928

rs_367773779

4 SubmittersRCV000412427 RCV003493564 RCV004022150

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

7 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

Criteria Provided
Multiple Submitters
No Conflicts

CA16042089

rs_1057517559

4 SubmittersRCV000410141 RCV000491460

NM_000038.6(APC):c.934-14C>T

SNV
Germline

Chr5:112818952

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA051264

rs_778707022

7 SubmittersRCV000410782 RCV001151509 RCV001618683 RCV003995912 RCV000583876

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/Likely 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
Hereditary cancer-predisposing syndrome
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA16042398

rs_1057517765

7 SubmittersRCV000414648 RCV000502397 RCV001026079 RCV001353995

NM_000038.6(APC):c.3916G>T (p.Glu1306Ter)

SNV
Germline/somatic

Chr5:112839510

Pathogenic

Neoplasm of the large intestine
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029925

rs_121913462

5 SubmittersRCV000443324 RCV001180269 RCV000985300 RCV004563307

NM_000038.6(APC):c.4099C>T (p.Gln1367Ter)

SNV
Germline/somatic

Chr5:112839693

Pathogenic

Neoplasm of the large intestine
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16030309

rs_121913328

3 SubmittersRCV000433625 RCV001815384 RCV004563308

NM_000038.6(APC):c.4132C>T (p.Gln1378Ter)

SNV
Germline/somatic

Chr5:112839726

Pathogenic

Neoplasm of the large intestine
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16030382

rs_121913329

3 SubmittersRCV000443420 RCV001021924 RCV003337272

NM_000038.6(APC):c.4135G>T (p.Glu1379Ter)

SNV
Germline/somatic

Chr5:112839729

Pathogenic

Neoplasm of the large intestine
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16030390

rs_121913326

4 SubmittersRCV000426216 RCV001725179 RCV004563309

NM_000038.6(APC):c.4285C>T (p.Gln1429Ter)

SNV
Somatic

Chr5:112839879

Pathogenic

Neoplasm of the large intestine
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16030720

rs_74535574

3 SubmittersRCV000433006 RCV004563310

NM_001048174.2(MUTYH):c.379-1G>A

SNV
Germline

Chr1:45332960

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603709

rs_1057520660

5 SubmittersRCV001022814 RCV000417586 RCV000553473

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
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA057696

rs_376600220

7 SubmittersRCV000441283 RCV000471644 RCV000771496 RCV001284666

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

7 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
Hereditary cancer-predisposing syndrome
APC-related disorder
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA037761

rs_778565823

9 SubmittersRCV000424349 RCV000566135 RCV003897840 RCV003995947 RCV004022289

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

Criteria Provided
Conflicting Classifications

CA16604666

rs_964029262

6 SubmittersRCV000445305 RCV000584123 RCV004022290

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

8 SubmittersRCV000432139 RCV000566862 RCV001155578 RCV001703802 RCV003766266 RCV004000392

NM_000038.6(APC):c.933+5C>T

SNV
Germline

Chr5:112815598

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA051247

rs_573528468

6 SubmittersRCV000440101 RCV000582859 RCV000985327 RCV003942408 RCV004567916

NM_000038.6(APC):c.221-5T>C

SNV
Germline

Chr5:112767184

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16604759

rs_1057524155

6 SubmittersRCV000438575 RCV000588735 RCV001805053 RCV004022489

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.1225C>A (p.Arg409=)

SNV
Germline

Chr1:45331434

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16610118

rs_587778540

2 SubmittersRCV000465702 RCV002379436

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

Criteria Provided
Conflicting Classifications

CA057589

rs_201163858

7 SubmittersRCV000467236 RCV000478752 RCV000571566

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
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA058359

rs_745921592

9 SubmittersRCV000475342 RCV000478506 RCV000571018

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

10 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

Criteria Provided
Multiple Submitters
No Conflicts

CA16610175

rs_1060501335

6 SubmittersRCV000465018 RCV000771347

NM_001048174.2(MUTYH):c.992C>T (p.Pro331Leu)

SNV
Germline

Chr1:45331771

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16610177

rs_1060501323

6 SubmittersRCV000481886 RCV000474007 RCV000574563

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

Criteria Provided
Conflicting Classifications

CA030877

rs_750503329

8 SubmittersRCV000479660 RCV000571928 RCV001192982 RCV002506131 RCV003766575 RCV004001947

NM_000038.6(APC):c.749A>G (p.His250Arg)

SNV
Germline

Chr5:112801298

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16022971

rs_774296531

6 SubmittersRCV000570604 RCV001174654 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

Criteria Provided
Conflicting Classifications

CA049073

rs_762117133

12 SubmittersRCV000465724 RCV000572577 RCV000779741 RCV001357050 RCV004001981

NM_000038.6(APC):c.791A>G (p.Gln264Arg)

SNV
Germline

Chr5:112801340

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA049479

rs_369345931

8 SubmittersRCV000483155 RCV000764559 RCV000575683 RCV004001922 RCV002525602

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.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.2414G>A (p.Arg805Gln)

SNV
Germline

Chr5:112838008

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA031897

rs_200593940

10 SubmittersRCV000468198 RCV000491212 RCV000677778 RCV001549488 RCV003479129 RCV003899932 RCV004001982

NM_000038.6(APC):c.136-3C>T

SNV
Germline

Chr5:112766323

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611599

rs_1060503361

4 SubmittersRCV001179769 RCV001577551 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.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.646-9T>C

SNV
Germline

Chr5:112792437

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611615

rs_1060504878

5 SubmittersRCV000775769 RCV001844170 RCV004023075 RCV004002214

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

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16611621

rs_886039507

6 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
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA037656

rs_761886683

5 SubmittersRCV000570866 RCV000600295 RCV003766580 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

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16026241

rs_773020689

4 SubmittersRCV002429542 RCV003337276

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16022351

rs_1060503328

7 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
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA034127

rs_770976457

7 SubmittersRCV000561099 RCV000758725 RCV004001931 RCV002526443

NM_000038.6(APC):c.4783G>T (p.Ala1595Ser)

SNV
Germline

Chr5:112840377

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16031815

rs_749782426

3 SubmittersRCV000775710 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

Criteria Provided
Conflicting Classifications

CA040767

rs_141298709

8 SubmittersRCV000465464 RCV000481145 RCV000572058 RCV004001930

NM_000038.6(APC):c.4212C>T (p.Ser1404=)

SNV
Germline

Chr5:112839806

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

CA16611648

rs_144655979

10 SubmittersRCV000492038 RCV000732075 RCV000615951 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

Criteria Provided
Conflicting Classifications

CA026951

rs_755069015

4 SubmittersRCV001184708 RCV002526444

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16024304

rs_1060503333

6 SubmittersRCV000481642 RCV000491762 RCV000508095 RCV004564105

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.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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16025910

rs_1060503282

4 SubmittersRCV002418420 RCV001800684 RCV004564065

NM_000038.6(APC):c.2569G>A (p.Gly857Arg)

SNV
Germline

Chr5:112838163

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA032593

rs_745692178

5 SubmittersRCV000568317 RCV002526440 RCV004001919

NM_000038.6(APC):c.2635C>T (p.Gln879Ter)

SNV
Germline

Chr5:112838229

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16027094

rs_1060503287

3 SubmittersRCV002429543 RCV002526446

NM_000038.6(APC):c.5060G>A (p.Arg1687Gln)

SNV
Germline

Chr5:112840654

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA040507

rs_779068685

9 SubmittersRCV000580947 RCV000482697 RCV001293489 RCV004001970 RCV003392285 RCV004564112

NM_000038.6(APC):c.5308A>G (p.Lys1770Glu)

SNV
Germline

Chr5:112840902

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA041323

rs_551183536

9 SubmittersRCV000566944 RCV001800683 RCV003492060 RCV004001918 RCV003401490 RCV003766558

NM_000038.6(APC):c.4815G>A (p.Val1605=)

SNV
Germline

Chr5:112840409

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16611674

rs_1060503313

3 SubmittersRCV002339181 RCV004564086

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.5794A>T (p.Thr1932Ser)

SNV
Germline

Chr5:112841388

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

CA043023

rs_777604445

8 SubmittersRCV000457967 RCV000561037 RCV000679070 RCV004001924

NM_000038.6(APC):c.6131G>A (p.Ser2044Asn)

SNV
Germline

Chr5:112841725

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

CA043925

rs_375743017

5 SubmittersRCV000571749 RCV000733231 RCV004564045 RCV004001912

NM_000038.6(APC):c.6682A>G (p.Arg2228Gly)

SNV
Germline

Chr5:112842276

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

CA16035939

rs_199648202

10 SubmittersRCV000571005 RCV001556005 RCV002268090 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
Familial adenomatous polyposis 1
APC-related disorder

Criteria Provided
Conflicting Classifications

CA048361

rs_545125246

7 SubmittersRCV000575061 RCV001764443 RCV001778967 RCV002523368 RCV003409635

NM_000038.6(APC):c.7696A>C (p.Arg2566=)

SNV
Germline

Chr5:112843290

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

CA16611743

rs_1060504883

6 SubmittersRCV000775747 RCV000586267 RCV003424039 RCV004002219 RCV004564148

NM_000038.6(APC):c.532-8G>A

SNV
Germline

Chr5:112780782

Pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

CA16611747

rs_1060503323

6 SubmittersRCV000491376 RCV000503571 RCV002298605 RCV003148748

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

Criteria Provided
Conflicting Classifications

CA050563

rs_769736863

5 SubmittersRCV000775356 RCV002523375

NM_000038.6(APC):c.1096G>A (p.Asp366Asn)

SNV
Germline

Chr5:112819128

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

CA026688

rs_199562537

6 SubmittersRCV001017272 RCV002469156 RCV004001917 RCV004564050

NM_000038.6(APC):c.1409-5A>G

SNV
Germline

Chr5:112827103

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16611764

rs_768109346

1 SubmittersRCV004564070

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

6 SubmittersRCV000565417 RCV002291636 RCV004022879

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
APC-related disorder
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA034088

rs_746581330

10 SubmittersRCV000567624 RCV000585539 RCV001157046 RCV003925387 RCV004002209 RCV004564134

NM_000038.6(APC):c.3425A>C (p.Asn1142Thr)

SNV
Germline

Chr5:112839019

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

CA035313

rs_138410865

5 SubmittersRCV000561662 RCV001775817 RCV004001952 RCV004564091

NM_000038.6(APC):c.3529A>G (p.Ile1177Val)

SNV
Germline

Chr5:112839123

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

CA035626

rs_369834416

9 SubmittersRCV000473845 RCV000481597 RCV000779718 RCV000570317 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

Criteria Provided
Conflicting Classifications

CA037191

rs_760485028

8 SubmittersRCV000474367 RCV000583236 RCV001775819

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

Criteria Provided
Conflicting Classifications

CA16032423

rs_1060503346

5 SubmittersRCV000480116 RCV001186460 RCV004001972 RCV004564116

NM_000038.6(APC):c.5083A>G (p.Arg1695Gly)

SNV
Germline

Chr5:112840677

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

CA040621

rs_555019540

6 SubmittersRCV000572779 RCV000483622 RCV003766576 RCV004001948

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
Condition: not provided
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA043504

rs_756266694

10 SubmittersRCV000475886 RCV000573470 RCV003126748 RCV003479128 RCV004001932

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

11 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

10 SubmittersRCV000457741 RCV000571502 RCV000759449 RCV001706640 RCV004001957

NM_001048174.2(MUTYH):c.1102G>A (p.Gly368Ser)

SNV
Germline

Chr1:45331661

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA16617156

rs_1064795219

2 SubmittersRCV000481734 RCV004568187

NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter)

SNV
Germline

Chr1:45332576

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16617164

rs_1064796630

5 SubmittersRCV000487288 RCV000707275 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

Criteria Provided
Conflicting Classifications

CA058212

rs_750592289

9 SubmittersRCV000478161 RCV000562580 RCV001004834 RCV000803247 RCV001643192

NM_001048174.2(MUTYH):c.421-12T>G

SNV
Germline

Chr1:45332846

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16617167

rs_890418965

5 SubmittersRCV000482933 RCV000580025 RCV003114605

NM_001128425.2(MUTYH):c.196G>A (p.Ala66Thr)

SNV
Germline

Chr1:45333565

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16617169

rs_1064793421

7 SubmittersRCV000484216 RCV002465682 RCV003993979 RCV001013877 RCV001062360

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
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA032840

rs_746592911

9 SubmittersRCV000484135 RCV000646444 RCV000574492 RCV000766533 RCV002282167

NM_000038.6(APC):c.350C>A (p.Ser117Ter)

SNV
Germline

Chr5:112767318

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16022086

rs_1064793535

5 SubmittersRCV000482015 RCV000561431 RCV001824795 RCV002525784

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

Chr5:112815487

Likely pathogenic

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

Reviewed By Expert Panel

CA16618069

rs_1064793022

5 SubmittersRCV000486412 RCV002436523 RCV002525749

NM_000038.6(APC):c.835-4T>G

SNV
Germline

Chr5:112815491

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA050586

rs_756807560

6 SubmittersRCV000482851 RCV000659271 RCV000776476 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

5 SubmittersRCV000484801 RCV000565633 RCV000677766 RCV002526511

NM_000038.6(APC):c.1405C>T (p.Leu469=)

SNV
Germline

Chr5:112821988

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

CA027334

rs_746293695

8 SubmittersRCV000562539 RCV000587476 RCV000855609 RCV003766682 RCV004003331

NM_000038.6(APC):c.1409-2A>C

SNV
Germline

Chr5:112827106

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16618072

rs_1064794163

5 SubmittersRCV000484643 RCV001011425 RCV004564173

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16025402

rs_876658355

3 SubmittersRCV000478037 RCV002413324 RCV003337283

NM_000038.6(APC):c.1876A>G (p.Thr626Ala)

SNV
Germline

Chr5:112835083

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

CA029787

rs_771748555

6 SubmittersRCV000478621 RCV000491486 RCV004003349 RCV002525866

NM_000038.6(APC):c.1956C>T (p.His652=)

SNV
Germline

Chr5:112835163

Likely pathogenic

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

Reviewed By Expert Panel

CA16618077

rs_1064793716

5 SubmittersRCV000482661 RCV000502897 RCV001013836 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16027177

rs_199740875

9 SubmittersRCV000485943 RCV000503003 RCV000786963 RCV001186210

NM_000038.6(APC):c.3313C>T (p.Arg1105Trp)

SNV
Germline

Chr5:112838907

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA034994

rs_768454793

7 SubmittersRCV000478947 RCV001019909 RCV003493598 RCV003470563

NM_000038.6(APC):c.3760A>G (p.Ile1254Val)

SNV
Germline

Chr5:112839354

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA036589

rs_769504783

8 SubmittersRCV000564208 RCV000732064 RCV004002236 RCV002525751 RCV003962331

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
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA042093

rs_767612847

7 SubmittersRCV000483629 RCV000491516 RCV001731707 RCV003766666 RCV004002286

NM_000038.6(APC):c.5723A>G (p.Asn1908Ser)

SNV
Germline

Chr5:112841317

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16033859

rs_1064795748

5 SubmittersRCV000485630 RCV002248706 RCV002350071 RCV004003374 RCV004564191

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
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA044550

rs_757633174

10 SubmittersRCV000480863 RCV000566531 RCV001700391 RCV004002238 RCV004568141

NM_000038.6(APC):c.6952A>G (p.Ser2318Gly)

SNV
Germline

Chr5:112842546

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

CA046510

rs_747056590

8 SubmittersRCV000686468 RCV000588074 RCV000563979 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

6 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

Criteria Provided
Conflicting Classifications

CA050856

rs_769704991

5 SubmittersRCV000485330 RCV000571556 RCV003470546

NM_000038.6(APC):c.323G>A (p.Gly108Glu)

SNV
Germline

Chr5:112767291

Conflicting classifications of pathogenicity

Colorectal cancer, susceptibility to
Hereditary cancer-predisposing syndrome
APC-related attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16022027

rs_1114167456

7 SubmittersRCV000491472 RCV000775971 RCV003483636 RCV004003434 RCV004564196

NM_025077.4(TOE1):c.52+77G>A

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/Likely 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16023886

rs_1114167545

4 SubmittersRCV000491623 RCV002527051 RCV003330724

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16025124

rs_1114167592

3 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16025596

rs_1060503318

4 SubmittersRCV000491686 RCV000759416 RCV001354779 RCV004564211

NM_000038.6(APC):c.1958+1G>A

SNV
Germline

Chr5:112835166

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA360623916

rs_1114167569

6 SubmittersRCV000491035 RCV000503747 RCV001540866 RCV002523963

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
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA032383

rs_536223189

9 SubmittersRCV000491956 RCV000677765 RCV001775829 RCV002465690 RCV004003444 RCV002523433

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

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

Criteria Provided
Conflicting Classifications

CA033363

rs_150543576

6 SubmittersRCV000491333 RCV000779717 RCV001539766 RCV004568614

NM_000038.6(APC):c.3571C>T (p.Gln1191Ter)

SNV
Germline

Chr5:112839165

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16029176

rs_1114167547

4 SubmittersRCV000491728 RCV000584042 RCV002527052

NM_000038.6(APC):c.3665C>A (p.Ser1222Ter)

SNV
Germline

Chr5:112839259

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16029377

rs_1114167614

3 SubmittersRCV000491161 RCV004564225 RCV004003450

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

Chr5:112839651

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16030222

rs_1114167568

3 SubmittersRCV000491310 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.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

8 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

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16025443

rs_1019221239

3 SubmittersRCV000493755 RCV000502700 RCV004564227

NM_000038.6(APC):c.5001T>A (p.Asn1667Lys)

SNV
Germline

Chr5:112840595

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16032274

rs_1131691138

4 SubmittersRCV000494666 RCV004003476 RCV003766766

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

Criteria Provided
Multiple Submitters
No Conflicts

CA360617465

rs_1554069570

3 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

Criteria Provided
Multiple Submitters
No Conflicts

CA16022794

rs_1554074738

5 SubmittersRCV000502052 RCV000657601 RCV002524123

NM_000038.6(APC):c.706C>T (p.Gln236Ter)

SNV
Germline

Chr5:112792506

Pathogenic

Carcinoma of colon
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16022877

rs_1554074786

4 SubmittersRCV000504016 RCV002367679 RCV004564230

NM_000038.6(APC):c.835-7T>G

SNV
Germline

Chr5:112815488

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA645372415

rs_1554079128

3 SubmittersRCV000500835 RCV002527170

NM_000038.6(APC):c.1370C>A (p.Ser457Ter)

SNV
Germline

Chr5:112821953

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16024303

rs_1060503333

7 SubmittersRCV000501164 RCV001186209 RCV001643225 RCV002286743 RCV002524125

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

SNV
Germline

Chr5:112827107

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA360619890

rs_863225313

5 SubmittersRCV000502954 RCV002395209 RCV004564231

NM_000038.6(APC):c.1744-4C>G

SNV
Germline

Chr5:112834947

Pathogenic

Carcinoma of colon
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA645372420

rs_772745309

3 SubmittersRCV000504229 RCV001012986 RCV004564233

NM_000038.6(APC):c.1779G>A (p.Trp593Ter)

SNV
Germline

Chr5:112834986

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16025206

rs_1554083132

5 SubmittersRCV000504103 RCV000708599 RCV004564234

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

SNV
Germline

Chr5:112837687

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16025901

rs_137854582

3 SubmittersRCV000502286 RCV002420270 RCV004564235

NM_000038.6(APC):c.2950G>T (p.Glu984Ter)

SNV
Germline

Chr5:112838544

Pathogenic

Carcinoma of colon
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16027776

rs_1254176854

3 SubmittersRCV000500319 RCV002524127

NM_000038.6(APC):c.2995C>T (p.Gln999Ter)

SNV
Germline

Chr5:112838589

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

CA16027884

rs_75239284

4 SubmittersRCV000502386 RCV004564236

NM_000038.6(APC):c.3454C>T (p.Gln1152Ter)

SNV
Germline

Chr5:112839048

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16028909

rs_1064795228

3 SubmittersRCV000499959 RCV004564238

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

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

Criteria Provided
Conflicting Classifications

CA340134139

rs_765686051

4 SubmittersRCV000507210 RCV000705044 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

Criteria Provided
Multiple Submitters
No Conflicts

CA16024224

rs_876658802

3 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.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

not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360617495

rs_1554072547

5 SubmittersRCV000506699 RCV002350126 RCV002527346

NM_000038.6(APC):c.834+1G>A

SNV
Germline

Chr5:112801384

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA360618290

rs_1554076225

4 SubmittersRCV000507726 RCV001356878 RCV002413392 RCV004564252

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

Criteria Provided
Multiple Submitters
No Conflicts

CA059263

rs_769237459

10 SubmittersRCV000519616 RCV000570778 RCV000640346 RCV003159665

NM_000038.6(APC):c.1263G>A (p.Trp421Ter)

SNV
Germline

Chr5:112819295

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16024066

rs_1554080106

3 SubmittersRCV000521866 RCV004561492

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16031917

rs_774847203

4 SubmittersRCV000521142 RCV000780834 RCV004561494

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

Criteria Provided
Conflicting Classifications

CA340132596

rs_774607582

4 SubmittersRCV000551676 RCV000777223

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

Criteria Provided
Conflicting Classifications

CA056971

rs_374655042

4 SubmittersRCV000546791 RCV000566156 RCV002298653

NM_001048174.2(MUTYH):c.265-5G>A

SNV
Germline

Chr1:45333329

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA21839521

rs_1003387951

3 SubmittersRCV000552672 RCV000571211

NM_001048174.2(MUTYH):c.242G>C (p.Arg81Pro)

SNV
Germline

Chr1:45333435

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA057382

rs_761763725

5 SubmittersRCV000532016 RCV002261103 RCV001019554

NM_025077.4(TOE1):c.-44T>G

SNV
Germline

Chr1:45340209

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA089472

rs_201746729

3 SubmittersRCV000545977 RCV000583042 RCV003323599

NM_001127511.3(APC):c.-204A>G

SNV
Germline

Chr5:112707514

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA124924880

rs_904001781

3 SubmittersRCV002526234 RCV003424124 RCV003320685

NM_001127511.3(APC):c.-126G>A

SNV
Germline

Chr5:112707592

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA124924998

rs_948080320

3 SubmittersRCV001805183 RCV003900200 RCV004568896

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

Criteria Provided
Conflicting Classifications

CA124925003

rs_948080320

3 SubmittersRCV001183244 RCV001704678 RCV004561542

NM_001127511.3(APC):c.114G>A (p.Thr38=)

SNV
Germline

Chr5:112707831

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
APC-related disorder

Criteria Provided
Conflicting Classifications

CA561890299

rs_761467156

2 SubmittersRCV002528452 RCV003960351

NM_001127511.3(APC):c.133C>T (p.Arg45Cys)

SNV
Germline

Chr5:112707850

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA053936

rs_755954869

3 SubmittersRCV003320681 RCV004568881

NM_000038.6(APC):c.423-9A>G

SNV
Germline

Chr5:112775620

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA658657473

rs_1554071494

2 SubmittersRCV004561584

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
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA360619186

rs_1554079938

5 SubmittersRCV000568263 RCV001764583 RCV003999447 RCV004569049

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
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA026866

rs_145912662

8 SubmittersRCV000572587 RCV001174750 RCV002491068 RCV003322784 RCV003999359 RCV004561501

NM_000038.6(APC):c.1762G>A (p.Val588Ile)

SNV
Germline

Chr5:112834969

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA029508

rs_372416031

11 SubmittersRCV000554226 RCV000561260 RCV000764562 RCV001356454 RCV003403312 RCV003153714 RCV003493637 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

Criteria Provided
Conflicting Classifications

CA124924916

rs_775297664

2 SubmittersRCV000762155 RCV002526229

NM_001127511.3(APC):c.-131G>C

SNV
Germline

Chr5:112707587

Conflicting classifications of pathogenicity

not specified
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA124924962

rs_572582235

3 SubmittersRCV003320683 RCV003925671 RCV004561545

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
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445753285

rs_139196838

5 SubmittersRCV003584661 RCV003999378 RCV003767015

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.5527C>A (p.Pro1843Thr)

SNV
Germline

Chr5:112841121

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

CA16033423

rs_1461006300

6 SubmittersRCV000567213 RCV001805184 RCV003313099 RCV003999402 RCV004568976

NM_000038.6(APC):c.768T>G (p.Asp256Glu)

SNV
Germline

Chr5:112801317

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

CA16023012

rs_764268036

6 SubmittersRCV000985321 RCV001026715 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

7 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

6 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

Criteria Provided
Conflicting Classifications

CA033901

rs_767473403

4 SubmittersRCV000579991 RCV001357578 RCV004568876

NM_001127511.3(APC):c.-212G>A

SNV
Germline

Chr5:112707506

Conflicting classifications of pathogenicity

APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA124924783

rs_930090983

2 SubmittersRCV003900202 RCV004568907

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

Criteria Provided
Conflicting Classifications

CA124924833

rs_761454123

3 SubmittersRCV001524617 RCV002465709 RCV004561553

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

Carcinoma of colon
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
Desmoid disease, hereditary
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA124924970

rs_543098847

3 SubmittersRCV000764557 RCV003960352 RCV004561543

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_000038.6(APC):c.6512G>A (p.Gly2171Glu)

SNV
Germline

Chr5:112842106

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA045165

rs_748745776

7 SubmittersRCV000566022 RCV000606972 RCV002527852 RCV003128660

NM_000038.6(APC):c.638G>A (p.Arg213Gln)

SNV
Germline

Chr5:112780896

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16022735

rs_1235428754

5 SubmittersRCV000602624 RCV000583903 RCV003999413 RCV004568997

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.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 adenomatous polyposis 1
Familial multiple polyposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA360619892

rs_1114167599

3 SubmittersRCV002526174 RCV004017676

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
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16030311

rs_1399790840

9 SubmittersRCV000532247 RCV000573595 RCV000611032 RCV002508225 RCV003403314 RCV003999390

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

5 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
APC-related disorder
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16034228

rs_773776516

8 SubmittersRCV000776164 RCV001155577 RCV002268157 RCV003419972 RCV003999407 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
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA039593

rs_752627126

8 SubmittersRCV000567343 RCV001193497 RCV003332195 RCV003999396 RCV004561587

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

Criteria Provided
Conflicting Classifications

CA049276

rs_587778037

5 SubmittersRCV000572911 RCV001558793 RCV002527879

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
Attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA035977

rs_756346998

5 SubmittersRCV000582171 RCV003483665 RCV004568935

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_001048174.2(MUTYH):c.1544G>A (p.Ser515Asn)

SNV
Germline

Chr1:45329328

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA340131538

rs_1553122804

3 SubmittersRCV000563136 RCV001037770 RCV001755946

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.470G>A (p.Arg157Gln)

SNV
Germline

Chr1:45332785

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

CA058221

rs_533899702

5 SubmittersRCV000566675 RCV000640396

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

Criteria Provided
Conflicting Classifications

CA340134170

rs_1362124228

3 SubmittersRCV000563921 RCV001237859

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

5 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

Criteria Provided
Multiple Submitters
No Conflicts

CA21838430

rs_199989617

7 SubmittersRCV000567080 RCV000702233 RCV000759166

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

Criteria Provided
Conflicting Classifications

CA340136766

rs_763693540

5 SubmittersRCV000569625 RCV000640376 RCV002280129

NM_001048174.2(MUTYH):c.264+1G>T

SNV
Germline

Chr1:45333412

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA340136330

rs_1553130042

4 SubmittersRCV000571337 RCV001853781

NM_001048174.2(MUTYH):c.224G>A (p.Trp75Ter)

SNV
Germline

Chr1:45333453

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA340136412

rs_1553130185

4 SubmittersRCV000657695 RCV000571879 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

Criteria Provided
Conflicting Classifications

CA034347

rs_753302494

6 SubmittersRCV000561562 RCV002530295 RCV003478245

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.15A>G (p.Ser5=)

SNV
Germline

Chr5:112754905

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

CA445752302

rs_1554067106

7 SubmittersRCV000561552 RCV002225669 RCV004561659 RCV004000964

NM_000038.6(APC):c.1409-3T>G

SNV
Germline

Chr5:112827105

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA658655932

rs_1554081629

3 SubmittersRCV000566457 RCV004562477

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
Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445963455

rs_1554083964

4 SubmittersRCV000568063 RCV003478272 RCV004024506

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

Criteria Provided
Conflicting Classifications

CA16028005

rs_1554084658

3 SubmittersRCV000570784 RCV004562432

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

Criteria Provided
Conflicting Classifications

CA030483

rs_577466163

9 SubmittersRCV000568349 RCV000646329 RCV003478241 RCV004000943

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

3 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

Criteria Provided
Conflicting Classifications

CA035157

rs_767339739

4 SubmittersRCV000572476 RCV002528086

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.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

Criteria Provided
Conflicting Classifications

CA040139

rs_370433763

8 SubmittersRCV000565169 RCV001805192 RCV002530260 RCV003409840 RCV004000951

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.645+1G>T

SNV
Germline

Chr5:112780904

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA360617499

rs_863225370

4 SubmittersRCV000574350 RCV002528043

NM_000038.6(APC):c.798G>A (p.Val266=)

SNV
Germline

Chr5:112801347

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

CA049580

rs_778689157

6 SubmittersRCV000572839 RCV003478242 RCV004000947 RCV004561640

NM_000038.6(APC):c.5572C>T (p.Arg1858Ter)

SNV
Germline

Chr5:112841166

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16033525

rs_1270783041

8 SubmittersRCV000573057 RCV000657738 RCV003403363 RCV004001187 RCV003159968 RCV004562494

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

Criteria Provided
Conflicting Classifications

CA16036051

rs_1055180096

8 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.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.7054A>G (p.Ser2352Gly)

SNV
Germline

Chr5:112842648

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16036702

rs_764311778

6 SubmittersRCV000564094 RCV004000975 RCV004561683

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
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA033216

rs_762572576

5 SubmittersRCV000570077 RCV001584390 RCV002528960

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.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

2 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

Criteria Provided
Conflicting Classifications

CA048379

rs_747833393

8 SubmittersRCV000564293 RCV000985320 RCV002526839 RCV004000939

NM_000038.6(APC):c.8148G>A (p.Val2716=)

SNV
Germline

Chr5:112843742

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA446211222

rs_1158207177

2 SubmittersRCV000568143 RCV004562497

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

Criteria Provided
Conflicting Classifications

CA16039553

rs_906191341

3 SubmittersRCV000561033 RCV004562465

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

5 SubmittersRCV000580661 RCV004001232 RCV004562537

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

Criteria Provided
Conflicting Classifications

CA035180

rs_755586334

4 SubmittersRCV000579783 RCV003767262

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
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA047824

rs_771929461

5 SubmittersRCV000579671 RCV003156263 RCV004001233 RCV003767267

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.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

3 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.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

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

Criteria Provided
Conflicting Classifications

CA658683412

rs_1202435147

7 SubmittersRCV000583572 RCV000590026 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

4 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.1744-3T>C

SNV
Germline

Chr5:112834948

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA029421

rs_760166803

5 SubmittersRCV000583077 RCV000826981 RCV004562560

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.3404A>G (p.Tyr1135Cys)

SNV
Germline

Chr5:112838998

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA035239

rs_754916822

5 SubmittersRCV000581738 RCV003153753 RCV004001289 RCV003767285

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_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.646-2A>G

SNV
Germline

Chr5:112792444

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA360617504

rs_777848503

5 SubmittersRCV000588727 RCV002367986 RCV002530879

NM_000038.6(APC):c.1110G>A (p.Leu370=)

SNV
Germline

Chr5:112819142

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445960280

rs_1439967202

3 SubmittersRCV000588803 RCV004024667

NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys)

SNV
Germline

Chr16:2046208

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 3
not specified
NTHL1-related disorder

Criteria Provided
Conflicting Classifications

CA7828332

rs_148104494

16 SubmittersRCV000592496 RCV001017807 RCV000765258 RCV001800825 RCV003945401

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

Criteria Provided
Conflicting Classifications

CA031515

rs_376526724

7 SubmittersRCV000733593 RCV001014934 RCV004002601 RCV004563345

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

Criteria Provided
Conflicting Classifications

CA340131986

rs_1553123105

2 SubmittersRCV000640391

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_000038.5(APC):c.-30611G>T

SNV
Germline

Chr5:112707333

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
APC-related disorder

Criteria Provided
Conflicting Classifications

CA658796584

rs_1554060090

2 SubmittersRCV000646547 RCV003892464

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_001127511.3(APC):c.91A>C (p.Arg31=)

SNV
Germline

Chr5:112707808

Conflicting classifications of pathogenicity

APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA561890291

rs_1302045127

2 SubmittersRCV003892465 RCV004563493

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_001354897.2(APC):c.-250T>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
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16034137

rs_1166934042

2 SubmittersRCV001024603 RCV004563418

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_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.1903G>T (p.Gly635Ter)

SNV
Germline

Chr5:112835110

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16025482

rs_1554083205

2 SubmittersRCV002533282

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
Classic or attenuated familial adenomatous polyposis
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA445963409

rs_1426881729

8 SubmittersRCV000759419 RCV001014408 RCV004004088 RCV003945635 RCV004025709

NM_000038.6(APC):c.2733A>T (p.Glu911Asp)

SNV
Germline

Chr5:112838327

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA033174

rs_770018276

4 SubmittersRCV001182318 RCV003767865 RCV003153786

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

rs_1554083930

1 SubmittersRCV000656740

NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)

SNV
Germline

Chr5:112839461

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554085355

5 SubmittersRCV000657604 RCV000763543 RCV002360677 RCV004563567

NM_000038.6(APC):c.5669C>G (p.Ser1890Ter)

SNV
Unknown

Chr5:112841263

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554086862

2 SubmittersRCV000662823

NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter)

SNV
Germline

Chr1:45332780

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553128813

3 SubmittersRCV000669566 RCV002343420

NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter)

SNV
Germline

Chr1:45334463

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_768386527

4 SubmittersRCV000671051 RCV000773209

NM_000038.6(APC):c.7172T>G (p.Ile2391Ser)

SNV
Germline

Chr5:112842766

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_747797803

6 SubmittersRCV000677767 RCV001026117 RCV002531389 RCV004004211

NM_001048174.2(MUTYH):c.-6-2A>G

SNV
Germline

Chr1:45334513

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1383826978

5 SubmittersRCV000679427 RCV000687716 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

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

rs_558173961

1 SubmittersRCV000690384

NM_001048174.2(MUTYH):c.248T>C (p.Leu83Pro)

SNV
Germline

Chr1:45333429

Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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

rs_769708176

5 SubmittersRCV001016520 RCV003153800 RCV002544731

NM_000038.6(APC):c.1270C>T (p.Gln424Ter)

SNV
Germline

Chr5:112819302

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1561542165

4 SubmittersRCV000985283 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

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
Familial adenomatous polyposis 1
Condition: not provided
APC-related disorder

Criteria Provided
Conflicting Classifications

rs_764180204

6 SubmittersRCV001186452 RCV002532234 RCV003478420 RCV003983169

NM_000038.6(APC):c.7219G>A (p.Gly2407Ser)

SNV
Germline

Chr5:112842813

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

rs_1561613753

5 SubmittersRCV000774449 RCV001592882 RCV004564311 RCV003999579

NM_000038.6(APC):c.7391C>G (p.Ser2464Cys)

SNV
Germline

Chr5:112842985

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_766473931

7 SubmittersRCV000776331 RCV003492129 RCV003999536 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

rs_372535376

2 SubmittersRCV000693291

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

SNV
Germline

Chr5:112775743

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_1561478536

2 SubmittersRCV002343511 RCV004564380

NM_000038.6(APC):c.2744T>C (p.Val915Ala)

SNV
Germline

Chr5:112838338

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_773849124

3 SubmittersRCV003338737 RCV002532333

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

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

rs_1561590899

4 SubmittersRCV001022127 RCV003478406 RCV004564277

NM_000038.6(APC):c.6871C>T (p.Gln2291Ter)

SNV
Germline

Chr5:112842465

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1561575998

4 SubmittersRCV002294368 RCV002424593

NM_000038.6(APC):c.2336T>G (p.Leu779Ter)

SNV
Germline

Chr5:112837930

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

rs_1561576302

1 SubmittersRCV004564393

NM_000038.6(APC):c.2674G>T (p.Glu892Ter)

SNV
Germline

Chr5:112838268

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

rs_1561578889

1 SubmittersRCV004564389

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

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

rs_760999992

6 SubmittersRCV001182319 RCV002507195 RCV002547136 RCV004004293

NM_000038.6(APC):c.3745T>A (p.Cys1249Ser)

SNV
Germline

Chr5:112839339

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_1417740204

2 SubmittersRCV002343474 RCV004564321

NM_000038.6(APC):c.3871C>T (p.Gln1291Ter)

SNV
Germline

Chr5:112839465

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

rs_1561588104

1 SubmittersRCV004564367

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

Criteria Provided
Conflicting Classifications

rs_1165759330

3 SubmittersRCV002332503 RCV003320735 RCV004564438

NM_000038.6(APC):c.6493C>A (p.Pro2165Thr)

SNV
Germline

Chr5:112842087

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_775501375

5 SubmittersRCV001025330 RCV001284249 RCV003493712 RCV003768081

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

rs_1561514828

5 SubmittersRCV001026248 RCV004564329

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

rs_1561545780

2 SubmittersRCV002386245 RCV004564398

NM_000038.6(APC):c.3549T>G (p.Tyr1183Ter)

SNV
Germline

Chr5:112839143

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

Criteria Provided
Conflicting Classifications

rs_1561611578

3 SubmittersRCV003303145 RCV004564335

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

Criteria Provided
Conflicting Classifications

rs_1195417407

4 SubmittersRCV000707345 RCV002255516

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

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

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

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

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
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
NTHL1-related disorder

Criteria Provided
Conflicting Classifications

rs_1805378

14 SubmittersRCV000767388 RCV001023853 RCV000896408 RCV001816746 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
Familial adenomatous polyposis 2
not specified

Criteria Provided
Conflicting Classifications

rs_1557474374

5 SubmittersRCV000733152 RCV001026120 RCV001472704 RCV003320736

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

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

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

rs_1561553939

4 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

rs_1561555761

4 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

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
Familial adenomatous polyposis 1
6 conditions

Criteria Provided
Conflicting Classifications

rs_752874220

5 SubmittersRCV000759422 RCV001188847 RCV002533825 RCV002485968

NM_000038.6(APC):c.4109A>G (p.Lys1370Arg)

SNV
Germline

Chr5:112839703

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

rs_1365778107

5 SubmittersRCV000759429 RCV001021884 RCV003999900 RCV004564469

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

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
Familial adenomatous polyposis 2
not specified
Gastric cancer

Criteria Provided
Conflicting Classifications

rs_932830392

7 SubmittersRCV000760568 RCV000777365 RCV001378375 RCV002249461 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

Criteria Provided
Multiple Submitters
No Conflicts

rs_146347092

10 SubmittersRCV000760534 RCV001018044 RCV001535451

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_888691362

5 SubmittersRCV000776071 RCV001206801 RCV001354223

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

Criteria Provided
Conflicting Classifications

rs_745394881

4 SubmittersRCV000775117 RCV002534172

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

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

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

rs_559313229

3 SubmittersRCV000775134 RCV004561759

NM_000038.6(APC):c.2850T>G (p.Pro950=)

SNV
Germline

Chr5:112838444

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_1561580310

3 SubmittersRCV000772581 RCV002536633

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

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

rs_752977559

3 SubmittersRCV000775142 RCV004561762

NM_000038.6(APC):c.4863A>G (p.Gln1621=)

SNV
Germline

Chr5:112840457

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_1561595977

4 SubmittersRCV000774822 RCV004027271

NM_000038.6(APC):c.6487A>C (p.Lys2163Gln)

SNV
Germline

Chr5:112842081

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_759728732

6 SubmittersRCV000775341 RCV000779713 RCV001284248 RCV002535529 RCV003983202

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

Criteria Provided
Conflicting Classifications

rs_763786323

5 SubmittersRCV000775350 RCV001566386 RCV004001446 RCV004561767

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

rs_775126492

5 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

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

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

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

rs_780218375

3 SubmittersRCV000775123 RCV001192913 RCV002536694

NM_000038.6(APC):c.933+7G>A

SNV
Germline

Chr5:112815600

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_369087912

2 SubmittersRCV000779733 RCV003768451

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

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

rs_1570406302

2 SubmittersRCV000794479 RCV003166117

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

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

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

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

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

rs_1561465195

3 SubmittersRCV001177511 RCV004561870

NM_000038.6(APC):c.664C>T (p.Gln222Ter)

SNV
Germline

Chr5:112792464

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1580423584

2 SubmittersRCV004561800

NM_000038.6(APC):c.712C>T (p.Gln238Ter)

SNV
Germline

Chr5:112792512

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1580424314

3 SubmittersRCV002537026 RCV003307444

NM_000038.6(APC):c.1479C>A (p.Tyr493Ter)

SNV
Germline

Chr5:112827178

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

rs_1580569295

4 SubmittersRCV001796258 RCV004562820

NM_000038.6(APC):c.1626G>C (p.Gln542His)

SNV
Germline

Chr5:112828006

Likely pathogenic

Familial adenomatous polyposis 1

Reviewed By Expert Panel

rs_1580569744

2 SubmittersRCV002537180

NM_000038.6(APC):c.2001A>G (p.Gln667=)

SNV
Germline

Chr5:112837595

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_1580617421

2 SubmittersRCV004562714

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

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

rs_1580633796

2 SubmittersRCV004001649 RCV004561913

NM_000038.6(APC):c.4006A>T (p.Arg1336Ter)

SNV
Germline

Chr5:112839600

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1580642648

2 SubmittersRCV002534748

NM_000038.6(APC):c.4025T>G (p.Leu1342Ter)

SNV
Germline

Chr5:112839619

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

rs_769121879

3 SubmittersRCV001022878 RCV004001810 RCV004562779

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

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

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

Criteria Provided
Conflicting Classifications

rs_533762549

3 SubmittersRCV001181767 RCV004561928

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

rs_1385926024

4 SubmittersRCV001024648 RCV002478932 RCV004562821

NM_000038.6(APC):c.6395C>G (p.Ser2132Ter)

SNV
Germline

Chr5:112841989

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

rs_1580670427

1 SubmittersRCV004562796

NM_000038.6(APC):c.6862C>T (p.Gln2288Ter)

SNV
Germline

Chr5:112842456

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

rs_1554087972

1 SubmittersRCV000792397

NM_000038.6(APC):c.7086A>T (p.Gly2362=)

SNV
Germline

Chr5:112842680

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_780439042

3 SubmittersRCV001026017 RCV004561875

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

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 adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1580685528

4 SubmittersRCV001026699 RCV002537333

NM_002439.5(MSH3):c.316C>G (p.Gln106Glu)

SNV
Germline

Chr5:80656489

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

rs_149350323

5 SubmittersRCV000822585 RCV001018944 RCV003153868

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

rs_149350323

5 SubmittersRCV000808146 RCV002325573 RCV003458538 RCV003461178

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

rs_374133543

5 SubmittersRCV000797608 RCV001024483 RCV003467363 RCV003458525

NM_002439.5(MSH3):c.802C>T (p.Arg268Ter)

SNV
Germline

Chr5:80672253

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_201033017

4 SubmittersRCV001027086 RCV000808080 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
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_578113271

6 SubmittersRCV000794478 RCV002255519 RCV003458519 RCV003461080

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_539295465

5 SubmittersRCV000798380 RCV001011178 RCV002290440 RCV003461101

NM_002439.5(MSH3):c.1586C>G (p.Ser529Ter)

SNV
Germline

Chr5:80741481

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4
Endometrial carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_758191157

4 SubmittersRCV000823459 RCV003458550 RCV003461283 RCV002397732

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

rs_201737845

7 SubmittersRCV000816035 RCV001013525 RCV003918276 RCV004028873

NM_002439.5(MSH3):c.2006G>A (p.Arg669Gln)

SNV
Germline

Chr5:80768042

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
MSH3-related disorder
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

rs_372048303

4 SubmittersRCV000810968 RCV001014019 RCV003392617 RCV003444685

NM_002439.5(MSH3):c.2041C>T (p.Pro681Ser)

SNV
Germline

Chr5:80768077

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
not specified
MSH3-related disorder

Criteria Provided
Conflicting Classifications

rs_115198722

10 SubmittersRCV000812556 RCV001014195 RCV002254713 RCV002268305 RCV003928282

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

rs_376667075

4 SubmittersRCV000817435 RCV002427027 RCV003461246 RCV003458547

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

rs_192592067

4 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
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_1561486630

4 SubmittersRCV000804310 RCV002453785 RCV003316811 RCV003461152

NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter)

SNV
Germline

Chr5:80813614

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_777054839

7 SubmittersRCV000794026 RCV001016296 RCV003461079 RCV003458518

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

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

rs_200420874

3 SubmittersRCV000814532 RCV001018659 RCV003461223

NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)

SNV
Germline

Chr16:2040142

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_753029097

5 SubmittersRCV000792395 RCV001027136 RCV001784408

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
not specified

Criteria Provided
Conflicting Classifications

rs_148474733

8 SubmittersRCV000811178 RCV001026979 RCV002291703 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
Familial adenomatous polyposis 3
NTHL1-related disorder

Criteria Provided
Conflicting Classifications

rs_147559648

7 SubmittersRCV000801248 RCV001026335 RCV003461127 RCV003928275

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

rs_367577861

6 SubmittersRCV000802228 RCV001025626 RCV003467389 RCV003928276

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

rs_919177150

4 SubmittersRCV000811739 RCV002363103 RCV003458215

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

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

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

rs_150437839

5 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

rs_374489979

5 SubmittersRCV000801523 RCV002336609 RCV003458209

NM_002528.7(NTHL1):c.409C>T (p.Gln137Ter)

SNV
Germline

Chr16:2044746

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_758667255

3 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

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

rs_371328106

5 SubmittersRCV000798528 RCV001021416 RCV003458206

NM_002528.7(NTHL1):c.355G>T (p.Val119Leu)

SNV
Germline

Chr16:2044800

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_536140679

4 SubmittersRCV000794253 RCV002352323 RCV003467340

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

rs_767591879

6 SubmittersRCV000820003 RCV001013758 RCV003483742

NM_002528.7(NTHL1):c.160C>T (p.Gln54Ter)

SNV
Germline

Chr16:2046322

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1596223384

3 SubmittersRCV000820504 RCV003458217 RCV004029040

NM_002528.7(NTHL1):c.145C>T (p.Arg49Cys)

SNV
Germline

Chr16:2046337

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_371105614

4 SubmittersRCV000809525 RCV002397662 RCV003467434

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

rs_3087469

7 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

Criteria Provided
Conflicting Classifications

rs_370539291

5 SubmittersRCV000814011 RCV001024035 RCV003467472

NM_001048174.2(MUTYH):c.264+1G>A

SNV
Germline

Chr1:45333412

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

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

rs_752152148

1 SubmittersRCV004562825

NM_000038.6(APC):c.1627-2A>G

SNV
Germline

Chr5:112828854

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

rs_1580573837

1 SubmittersRCV004562711

NM_000038.6(APC):c.1958+5A>C

SNV
Germline

Chr5:112835170

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_762899641

3 SubmittersRCV001013840 RCV004001565 RCV004561812

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1450314617

5 SubmittersRCV000815764 RCV002255536 RCV003458545 RCV003461236

NM_002439.5(MSH3):c.1341-1G>T

SNV
Germline

Chr5:80725452

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

rs_61754780

7 SubmittersRCV000803244 RCV001010949 RCV001523828 RCV003461143

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

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

rs_1554070317

4 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

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

Criteria Provided
Conflicting Classifications

rs_200639359

5 SubmittersRCV000811107 RCV001015528 RCV003458541 RCV003467450

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

rs_367544716

4 SubmittersRCV000820000 RCV002397715 RCV003461264 RCV003458549

NM_002439.5(MSH3):c.792+1G>A

SNV
Germline

Chr5:80670310

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_749929790

2 SubmittersRCV000802454 RCV003458531

NM_000038.5(APC):c.-30612G>C

SNV
Germline

Chr5:112707332

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
APC-related disorder

Criteria Provided
Conflicting Classifications

rs_1461935725

2 SubmittersRCV003768507 RCV003947995

NM_000038.5(APC):c.-30541G>A

SNV
Germline

Chr5:112707403

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
APC-related disorder

Criteria Provided
Conflicting Classifications

rs_1035047381

2 SubmittersRCV003768503 RCV003938168

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

rs_1580053768

4 SubmittersRCV000818546 RCV002453871 RCV003316814 RCV003467488

NM_002528.7(NTHL1):c.526-1G>A

SNV
Germline

Chr16:2043727

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_779757251

8 SubmittersRCV000824366 RCV001024197 RCV002290473

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

rs_1239874051

3 SubmittersRCV000805618 RCV003458210

NM_002528.7(NTHL1):c.116-1G>A

SNV
Germline

Chr16:2046367

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1411394625

5 SubmittersRCV001011341 RCV000808897 RCV003458213

NM_002528.7(NTHL1):c.115+1G>A

SNV
Germline

Chr16:2047708

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_749908882

9 SubmittersRCV000813400 RCV000989411 RCV001011335

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

rs_987999780

5 SubmittersRCV000874924 RCV003169192 RCV003768691 RCV004003101

NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr)

SNV
Germline

Chr5:80741466

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

rs_55724159

10 SubmittersRCV000966952 RCV001012233 RCV001002124 RCV001254630

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

rs_138339194

8 SubmittersRCV000898245 RCV001015645 RCV002291708 RCV003320768 RCV003922910

NM_001048174.2(MUTYH):c.1392+7C>T

SNV
Germline

Chr1:45331175

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_1570361183

3 SubmittersRCV000918939 RCV001186507 RCV001264571

NM_001048174.2(MUTYH):c.774G>A (p.Gly258=)

SNV
Germline

Chr1:45332241

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_771290019

4 SubmittersRCV000936787 RCV003169397 RCV003505148

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

rs_367816013

4 SubmittersRCV001025582 RCV001156935 RCV004562853

NM_000038.6(APC):c.7357A>C (p.Arg2453=)

SNV
Germline

Chr5:112842951

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1580681532

4 SubmittersRCV002382113 RCV002267048 RCV004562861

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

rs_746782115

6 SubmittersRCV000936173 RCV001019023 RCV003153881

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

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

rs_1570386293

3 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

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

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

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

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

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

rs_1316220949

2 SubmittersRCV000985312 RCV004563614

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

SNV
Unknown

Chr1:45332836

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

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

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

rs_1580035037

4 SubmittersRCV000987530 RCV001014807 RCV001048457

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

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

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

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

rs_199989617

2 SubmittersRCV001025797 RCV003614077

NM_001048174.2(MUTYH):c.438G>A (p.Trp146Ter)

SNV
Germline

Chr1:45332817

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1570423722

2 SubmittersRCV001023769 RCV003461398

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

rs_1570443086

2 SubmittersRCV001017526 RCV001308214

NM_000038.6(APC):c.138A>G (p.Glu46=)

SNV
Germline

Chr5:112766328

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1429803547

4 SubmittersRCV001011330 RCV002551742 RCV004004499

NM_000038.6(APC):c.145A>T (p.Lys49Ter)

SNV
Germline

Chr5:112766335

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1581160030

3 SubmittersRCV001011686 RCV004563630

NM_000038.6(APC):c.252A>G (p.Gly84=)

SNV
Germline

Chr5:112767220

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_375051600

6 SubmittersRCV001015846 RCV004004551 RCV003769478

NM_000038.6(APC):c.739C>T (p.Gln247Ter)

SNV
Germline

Chr5:112801288

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1580454483

2 SubmittersRCV001026383 RCV004563734

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

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

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

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

rs_1554084512

2 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

rs_776560257

2 SubmittersRCV001016771 RCV004004560

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

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

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

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

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

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
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_781535021

4 SubmittersRCV001021402 RCV004004616 RCV004569998

NM_000038.6(APC):c.3925G>T (p.Glu1309Ter)

SNV
Germline

Chr5:112839519

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1321583762

5 SubmittersRCV001021453 RCV001269628 RCV001845052

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

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

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

rs_533667536

4 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

rs_775740112

4 SubmittersRCV001023991 RCV002551885

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

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

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

Criteria Provided
Conflicting Classifications

rs_768537235

3 SubmittersRCV001026457 RCV002551964

NM_000038.6(APC):c.8411A>G (p.Gln2804Arg)

SNV
Germline

Chr5:112844005

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_1475247315

4 SubmittersRCV001017723 RCV002549460

NM_002439.5(MSH3):c.565C>T (p.Gln189Ter)

SNV
Germline

Chr5:80665349

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_1580546793

4 SubmittersRCV001024380 RCV001225754 RCV003458592 RCV003467682

NM_002439.5(MSH3):c.640C>T (p.Gln214Ter)

SNV
Germline

Chr5:80670157

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_952650934

3 SubmittersRCV001025235 RCV001390095 RCV003458593

NM_002439.5(MSH3):c.1264C>T (p.Gln422Ter)

SNV
Germline

Chr5:80679017

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1580556516

4 SubmittersRCV001010624 RCV001044153 RCV003461317 RCV003458587

NM_002439.5(MSH3):c.3341A>G (p.His1114Arg)

SNV
Germline

Chr5:80875789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Conflicting Classifications

rs_1158289237

3 SubmittersRCV001020041 RCV001060601 RCV003230277

NM_000038.6(APC):c.423-11A>G

SNV
Germline

Chr5:112775618

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Reviewed By Expert Panel

rs_1580358224

4 SubmittersRCV001022097 RCV003148912

NM_000038.6(APC):c.835-17A>G

SNV
Germline

Chr5:112815478

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
6 conditions
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_1580511131

3 SubmittersRCV001017598 RCV002497341 RCV004563657

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

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

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

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

rs_1580045730

3 SubmittersRCV001015524 RCV001378551 RCV003458589

NM_001048174.2(MUTYH):c.704G>C (p.Trp235Ser)

SNV
Germline

Chr1:45332391

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

rs_1570406302

2 SubmittersRCV001068994

NM_001048174.2(MUTYH):c.241C>G (p.Arg81Gly)

SNV
Germline

Chr1:45333436

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

rs_765123255

1 SubmittersRCV001052961

NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter)

SNV
Germline

Chr1:45333509

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1645371113

6 SubmittersRCV001065387 RCV001182520 RCV002268427

NM_000038.6(APC):c.521T>G (p.Leu174Ter)

SNV
Germline

Chr5:112775727

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

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

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

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

rs_1197529917

2 SubmittersRCV002434424 RCV004570086

NM_000038.6(APC):c.3225T>A (p.Tyr1075Ter)

SNV
Germline

Chr5:112838819

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_768123840

2 SubmittersRCV004564503

NM_000038.6(APC):c.3329C>A (p.Ser1110Ter)

SNV
Germline

Chr5:112838923

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

rs_1561584350

4 SubmittersRCV002454272 RCV003153898 RCV004563785 RCV004004709

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

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

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

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

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

rs_1765760073

2 SubmittersRCV004564495

NM_000038.6(APC):c.5101C>T (p.Gln1701Ter)

SNV
Germline

Chr5:112840695

Pathogenic

Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1561597691

2 SubmittersRCV003336297 RCV004570233

NM_000038.6(APC):c.6188A>G (p.His2063Arg)

SNV
Germline

Chr5:112841782

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_764000877

2 SubmittersRCV004563783 RCV003339434

NM_000038.6(APC):c.6755C>T (p.Pro2252Leu)

SNV
Germline

Chr5:112842349

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_574050786

2 SubmittersRCV002551395 RCV002363558

NM_002439.5(MSH3):c.703C>T (p.Gln235Ter)

SNV
Germline

Chr5:80670220

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_371356175

4 SubmittersRCV001038468 RCV002372759 RCV003458596 RCV003461442

NM_002439.5(MSH3):c.790G>T (p.Glu264Ter)

SNV
Germline

Chr5:80670307

Pathogenic/Likely pathogenic

Condition: not provided
Endometrial carcinoma
Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_766997264

4 SubmittersRCV001043289 RCV003461461 RCV003458599 RCV002416355

NM_002439.5(MSH3):c.1534G>T (p.Glu512Ter)

SNV
Germline

Chr5:80728931

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4
Endometrial carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1379605717

5 SubmittersRCV001040240 RCV002254717 RCV003461452 RCV002400237

NM_002439.5(MSH3):c.2200C>T (p.Arg734Ter)

SNV
Germline

Chr5:80768950

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_770330684

4 SubmittersRCV001071793 RCV002429746 RCV003458618 RCV003462624

NM_002439.5(MSH3):c.2421G>A (p.Trp807Ter)

SNV
Germline

Chr5:80778822

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_1744356274

3 SubmittersRCV001038215 RCV003458594 RCV003461439

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

SNV
Germline

Chr1:45331659

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

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

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

rs_1744356530

2 SubmittersRCV001054767 RCV003458607

NM_002439.5(MSH3):c.1897-1G>A

SNV
Germline

Chr5:80767932

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4
Endometrial carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1744149615

5 SubmittersRCV001040485 RCV003458598 RCV003461454 RCV002409388

NM_002439.5(MSH3):c.1653+1G>A

SNV
Germline

Chr5:80741549

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_550626088

2 SubmittersRCV001072039 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

rs_1377633383

4 SubmittersRCV001070359 RCV002258127 RCV003469263

NM_000038.6(APC):c.7513C>T (p.Arg2505Ter)

SNV
Germline

Chr5:112843107

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_79630786

7 SubmittersRCV001092765 RCV002393350 RCV003337354 RCV003230636

NM_000038.6(APC):c.8454C>T (p.Ser2818=)

SNV
Germline

Chr5:112844048

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

rs_1766752417

4 SubmittersRCV001157357 RCV002445400 RCV003769754 RCV004000257

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

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

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

rs_1762819450

2 SubmittersRCV001191223 RCV004564648

NM_000038.6(APC):c.3819A>G (p.Arg1273=)

SNV
Germline

Chr5:112839413

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_1765530477

3 SubmittersRCV001190061 RCV004564640

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

rs_1766040137

3 SubmittersRCV001176243 RCV004564583

NM_000038.6(APC):c.6676C>T (p.Arg2226Ter)

SNV
Germline

Chr5:112842270

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1064794626

3 SubmittersRCV001180170 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

rs_1196959150

5 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

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

rs_759069096

4 SubmittersRCV001190913 RCV002560964

NM_000038.6(APC):c.8480G>A (p.Gly2827Glu)

SNV
Germline

Chr5:112844074

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

rs_571511652

5 SubmittersRCV001179764 RCV001284727 RCV004006600 RCV003769950

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

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

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

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

rs_1645259682

3 SubmittersRCV001190400 RCV001554307 RCV003142114

NM_000038.6(APC):c.1626+6A>C

SNV
Germline

Chr5:112828012

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_1197354854

2 SubmittersRCV001176890 RCV003769890

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

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

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
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

rs_367908623

2 SubmittersRCV001187506 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

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

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

rs_1580634079

3 SubmittersRCV001192832 RCV001358570

NM_001048174.2(MUTYH):c.1275T>G (p.Tyr425Ter)

SNV
Germline

Chr1:45331299

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

rs_774968843

1 SubmittersRCV001218876

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

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

Criteria Provided
Conflicting Classifications

rs_1754800670

2 SubmittersRCV002451477 RCV004570481

NM_000038.6(APC):c.2815A>T (p.Lys939Ter)

SNV
Germline

Chr5:112838409

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

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

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

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

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

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

rs_876659022

2 SubmittersRCV004561976

NM_000038.6(APC):c.7813C>G (p.Gln2605Glu)

SNV
Germline

Chr5:112843407

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_201625142

2 SubmittersRCV003163678 RCV004570499

NM_002439.5(MSH3):c.253A>T (p.Arg85Ter)

SNV
Germline

Chr5:80656426

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1749286503

4 SubmittersRCV001222817 RCV002451518 RCV003462759 RCV003458648

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

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

rs_748016039

4 SubmittersRCV001220539 RCV002451507 RCV003458645 RCV003469380

NM_001048174.2(MUTYH):c.1414C>T (p.Gln472Ter)

SNV
Germline

Chr1:45330536

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

rs_1644624908

1 SubmittersRCV001202994

NM_001048174.2(MUTYH):c.849A>G (p.Arg283=)

SNV
Germline

Chr1:45332166

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

rs_369973885

2 SubmittersRCV001205348

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

rs_747993448

3 SubmittersRCV001209735 RCV001524498

NM_000038.6(APC):c.1797C>A (p.Cys599Ter)

SNV
Germline

Chr5:112835004

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

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

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

rs_1765170817

1 SubmittersRCV002561675

NM_001048174.2(MUTYH):c.1239+1G>T

SNV
Germline

Chr1:45331419

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

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

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

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

rs_1749285930

4 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
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_886037878

4 SubmittersRCV001203900 RCV002436783 RCV003458632 RCV003469329

NM_001048174.2(MUTYH):c.264+10C>T

SNV
Germline

Chr1:45333403

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_369242529

4 SubmittersRCV001223926 RCV002249812 RCV002339597 RCV003321810

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

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

rs_1743273324

3 SubmittersRCV001217045 RCV002393512 RCV002480715

NM_002439.5(MSH3):c.2319-2A>G

SNV
Germline

Chr5:80778718

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1197719947

3 SubmittersRCV001218526 RCV002447099 RCV003458641

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

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

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

rs_1645267570

2 SubmittersRCV001230803 RCV002327552

NM_000038.6(APC):c.1042C>T (p.Arg348Ter)

SNV
Germline

Chr5:112819074

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gastric cancer
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_1314843920

4 SubmittersRCV002393560 RCV003163774 RCV004562016

NM_000038.6(APC):c.3944C>A (p.Ser1315Ter)

SNV
Germline

Chr5:112839538

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

rs_1765564648

1 SubmittersRCV004562035

NM_000038.6(APC):c.4700C>G (p.Ser1567Ter)

SNV
Germline

Chr5:112840294

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1765745643

2 SubmittersRCV002339645 RCV004562055

NM_000038.6(APC):c.5432C>G (p.Ser1811Ter)

SNV
Germline

Chr5:112841026

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060503325

2 SubmittersRCV002567894

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

rs_80277939

2 SubmittersRCV002418792 RCV004562031

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

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1765131004

3 SubmittersRCV004004896 RCV004562094

NM_000038.6(APC):c.3786T>A (p.Tyr1262Ter)

SNV
Germline

Chr5:112839380

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

rs_147411334

2 SubmittersRCV001243559

NM_002439.5(MSH3):c.1341-2A>G

SNV
Germline

Chr5:80725451

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_750876165

4 SubmittersRCV001227144 RCV002379868 RCV003458650 RCV004570559

NM_002439.5(MSH3):c.1764-2A>G

SNV
Germline

Chr5:80761544

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_773032453

2 SubmittersRCV001225852 RCV003316834

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

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

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
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_1762806023

3 SubmittersRCV001284729 RCV003339580 RCV004562124

NM_001048174.2(MUTYH):c.1435-2A>T

SNV
Germline

Chr1:45329439

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

rs_1553123105

2 SubmittersRCV001298566

NM_001127511.3(APC):c.-40G>A

SNV
Germline

Chr5:112707678

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

rs_1750595782

1 SubmittersRCV002541887

NM_000038.6(APC):c.1744G>T (p.Glu582Ter)

SNV
Germline

Chr5:112834951

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1762431806

2 SubmittersRCV003166909 RCV004562993

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

rs_1765988972

2 SubmittersRCV004034922 RCV004562949

NC_000005.10:g.112707354G>C

SNV
Germline

Chr5:112707354

Conflicting classifications of pathogenicity

APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_545524187

2 SubmittersRCV003928848 RCV004563008

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

SNV
Germline

Chr5:112766416

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

rs_1756339861

3 SubmittersRCV002476594 RCV003770970 RCV004005207

NM_000038.6(APC):c.827A>G (p.Asn276Ser)

SNV
Germline

Chr5:112801376

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1760810320

3 SubmittersRCV002431950 RCV003770893 RCV004005164

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

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

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

rs_752654519

5 SubmittersRCV002368153 RCV002547515 RCV003320828 RCV004005238

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

rs_2149787552

2 SubmittersRCV001358256 RCV002432004

NM_000038.6(APC):c.423-8A>G

SNV
Germline

Chr5:112775621

Conflicting classifications of pathogenicity

Carcinoma of colon
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_2149614206

4 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

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

rs_1554086001

2 SubmittersRCV001358112 RCV004563074

NM_000038.6(APC):c.2427T>C (p.Asn809=)

SNV
Germline

Chr5:112838021

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_1035293450

3 SubmittersRCV002447456 RCV004563092

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

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

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

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

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

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

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

rs_1561545780

1 SubmittersRCV003771226

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

SNV
Germline

Chr5:112827107

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_863225313

2 SubmittersRCV003771229

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

SNV
Germline

Chr5:112827928

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_758437568

3 SubmittersRCV001379005 RCV003298626 RCV003458676

NM_002439.5(MSH3):c.2813+1G>A

SNV
Germline

Chr5:80813742

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_2112054627

3 SubmittersRCV001378094 RCV002438883 RCV003458675

NM_002439.5(MSH3):c.3001-1G>A

SNV
Germline

Chr5:80864812

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_2112118327

2 SubmittersRCV001379873 RCV003458677

NM_001048174.2(MUTYH):c.914-1G>T

SNV
Germline

Chr1:45331850

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2149130255

2 SubmittersRCV001385504 RCV001523926

NM_001048174.2(MUTYH):c.811C>T (p.Gln271Ter)

SNV
Germline

Chr1:45332204

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

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

rs_1645377813

1 SubmittersRCV001382773

NM_000038.6(APC):c.148C>T (p.Gln50Ter)

SNV
Germline

Chr5:112766338

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

rs_1756316465

1 SubmittersRCV003771264

NM_000038.6(APC):c.423-2A>C

SNV
Germline

Chr5:112775627

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_879254087

4 SubmittersRCV002550275 RCV003298629

NM_000038.6(APC):c.1958+2T>G

SNV
Germline

Chr5:112835167

Pathogenic/Likely pathogenic

Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2149844646

3 SubmittersRCV002298942 RCV002550265

NM_000038.6(APC):c.2507C>A (p.Ser836Ter)

SNV
Germline

Chr5:112838101

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1580623270

3 SubmittersRCV002432072 RCV004563883

NM_000038.6(APC):c.2557G>T (p.Glu853Ter)

SNV
Germline

Chr5:112838151

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

rs_2149879114

2 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

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

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

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

rs_2149901776

2 SubmittersRCV002551573

NM_000038.6(APC):c.4339C>T (p.Gln1447Ter)

SNV
Germline

Chr5:112839933

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

rs_1561591598

1 SubmittersRCV003771243

NM_000038.6(APC):c.4537G>T (p.Glu1513Ter)

SNV
Germline

Chr5:112840131

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

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

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

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

rs_772046189

4 SubmittersRCV001380626 RCV003355449 RCV003458678 RCV003469652

NM_002439.5(MSH3):c.747T>A (p.Cys249Ter)

SNV
Germline

Chr5:80670264

Pathogenic

Condition: not provided
Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1272356369

3 SubmittersRCV001384797 RCV003458690 RCV003169947

NM_002439.5(MSH3):c.1144A>T (p.Lys382Ter)

SNV
Germline

Chr5:80675099

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_139170496

5 SubmittersRCV001386309 RCV002456603 RCV003458692 RCV003463012

NM_002439.5(MSH3):c.1428T>A (p.Tyr476Ter)

SNV
Germline

Chr5:80725540

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1398195482

4 SubmittersRCV001384622 RCV003298630 RCV003462999 RCV003458688

NM_002439.5(MSH3):c.1686G>A (p.Trp562Ter)

SNV
Germline

Chr5:80744538

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_1395288001

4 SubmittersRCV001384173 RCV003458686 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

rs_750104015

2 SubmittersRCV001389064 RCV003458697

NM_002439.5(MSH3):c.1828C>T (p.Gln610Ter)

SNV
Germline

Chr5:80761610

Pathogenic/Likely pathogenic

Condition: not provided
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1360794165

3 SubmittersRCV001381128 RCV003462974 RCV003458680

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2112007993

2 SubmittersRCV001381640 RCV003458681

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

rs_2112026812

3 SubmittersRCV001382218 RCV003458682 RCV004570943

NM_002439.5(MSH3):c.2749C>T (p.Gln917Ter)

SNV
Germline

Chr5:80813677

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1745048937

3 SubmittersRCV001385720 RCV002438890 RCV003458691

NM_002528.7(NTHL1):c.791+1G>A

SNV
Germline

Chr16:2040132

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_374616565

4 SubmittersRCV002420858 RCV001381694 RCV003469663

NM_002528.7(NTHL1):c.736A>T (p.Lys246Ter)

SNV
Germline

Chr16:2040188

Pathogenic

Condition: not provided
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_879181418

2 SubmittersRCV001390301 RCV003316841

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

rs_750703971

3 SubmittersRCV002359046 RCV004007113 RCV004563969

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

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

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

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

rs_756912930

4 SubmittersRCV001525485 RCV004008848 RCV004564011

NM_002528.7(NTHL1):c.745A>T (p.Lys249Ter)

SNV
Unknown

Chr16:2040179

Likely pathogenic

Familial adenomatous polyposis 3

Criteria Provided
Single Submitter

rs_2150938327

1 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

rs_2149894857

4 SubmittersRCV001553561 RCV002334597 RCV003458075 RCV004564017

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

rs_2149875189

2 SubmittersRCV001580136

NM_000038.6(APC):c.646-1G>A

SNV
Germline

Chr5:112792445

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_78847145

5 SubmittersRCV001723314 RCV002539747 RCV002361005

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

rs_867991237

5 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

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

Criteria Provided
Conflicting Classifications

rs_2149995808

2 SubmittersRCV001774870 RCV003772074

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

rs_947634162

3 SubmittersRCV001774917 RCV002440865 RCV004564023

NM_002528.7(NTHL1):c.525+2T>G

SNV
Germline

Chr16:2044628

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2150942179

4 SubmittersRCV003355542 RCV003238507 RCV003470889

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

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

rs_876659420

2 SubmittersRCV001782472

NM_000038.6(APC):c.1775T>G (p.Leu592Ter)

SNV
Germline

Chr5:112834982

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1764700195

3 SubmittersRCV001801038 RCV002397750 RCV004564715

NM_000038.6(APC):c.3283C>T (p.Gln1095Ter)

SNV
Germline

Chr5:112838877

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2149888710

5 SubmittersRCV001801091 RCV002449428 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

rs_2149899615

2 SubmittersRCV001811703 RCV004564716

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

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

rs_1060504884

2 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

rs_2149859555

3 SubmittersRCV001823513

NM_000038.6(APC):c.1313-1G>T

SNV
Germline

Chr5:112821895

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2149791738

3 SubmittersRCV001825044 RCV004041008 RCV004564726

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

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

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

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

rs_2149151527

2 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

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

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

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

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

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

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

rs_2149972499

3 SubmittersRCV002361226 RCV003337376

NM_000038.6(APC):c.6363T>A (p.Ala2121=)

SNV
Germline

Chr5:112841957

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_1580670024

2 SubmittersRCV003585173 RCV004571848

NM_000038.6(APC):c.322G>T (p.Gly108Ter)

SNV
Germline

Chr5:112767290

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

rs_2149781233

2 SubmittersRCV003772517

NM_002528.7(NTHL1):c.634A>C (p.Lys212Gln)

SNV
Germline

Chr16:2043618

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1247089981

3 SubmittersRCV001905670 RCV003458234 RCV002370446

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

rs_1455020789

2 SubmittersRCV001999770 RCV003458237

NM_000038.6(APC):c.2853T>G (p.Tyr951Ter)

SNV
Germline

Chr5:112838447

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

rs_575406600

1 SubmittersRCV004564886

NM_002439.5(MSH3):c.1896+1G>A

SNV
Germline

Chr5:80761679

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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

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

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
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_2112809006

5 SubmittersRCV002011206 RCV002352732 RCV003458816 RCV003464382

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

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

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

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

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

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

rs_769152217

1 SubmittersRCV001909873

NM_002439.5(MSH3):c.3142C>T (p.Gln1048Ter)

SNV
Germline

Chr5:80873127

Pathogenic

Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_2112128589

2 SubmittersRCV001916863 RCV003458793

NM_000038.6(APC):c.834+5A>G

SNV
Germline

Chr5:112801388

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_2149712663

2 SubmittersRCV004043878

NM_000038.6(APC):c.6601G>A (p.Gly2201Arg)

SNV
Germline

Chr5:112842195

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_753573633

3 SubmittersRCV002361291 RCV004564876

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

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

rs_1060504891

1 SubmittersRCV002563620

NM_001048174.2(MUTYH):c.247C>G (p.Leu83Val)

SNV
Germline

Chr1:45333430

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

rs_2149172338

1 SubmittersRCV001976684

NM_000038.6(APC):c.2958T>G (p.Tyr986Ter)

SNV
Germline

Chr5:112838552

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

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

rs_1114167550

1 SubmittersRCV004571465

NM_000038.6(APC):c.5562C>G (p.Tyr1854Ter)

SNV
Germline

Chr5:112841156

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

rs_2149943308

1 SubmittersRCV004564801

NM_000038.6(APC):c.2177T>G (p.Leu726Ter)

SNV
Germline

Chr5:112837771

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2149862441

2 SubmittersRCV004564889

NM_001127511.3(APC):c.-109C>T

SNV
Germline

Chr5:112707609

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_761634030

2 SubmittersRCV003493893 RCV004564824

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

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

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

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

rs_1561477861

3 SubmittersRCV002334972 RCV003772949

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

SNV
Germline

Chr5:112837552

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

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

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

rs_1439772141

2 SubmittersRCV004565135

NM_002528.7(NTHL1):c.11T>A (p.Leu4Ter)

SNV
Germline

Chr16:2047813

Pathogenic

Condition: not provided
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_1413587495

2 SubmittersRCV001909047 RCV003458235

NM_000038.6(APC):c.1801G>T (p.Glu601Ter)

SNV
Germline

Chr5:112835008

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

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

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

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

rs_866260675

2 SubmittersRCV001959088 RCV003458804

NM_000038.6(APC):c.7715C>A (p.Ser2572Ter)

SNV
Germline

Chr5:112843309

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

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

rs_779757251

2 SubmittersRCV001895351 RCV003458232

NM_000038.6(APC):c.7494T>A (p.Ser2498=)

SNV
Germline

Chr5:112843088

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_2149988296

2 SubmittersRCV002388708 RCV003772453

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

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

rs_759662717

2 SubmittersRCV002361327 RCV002569329

NM_000038.6(APC):c.2511A>C (p.Ser837=)

SNV
Germline

Chr5:112838105

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

rs_79909810

3 SubmittersRCV002425395 RCV004565171

NM_000038.6(APC):c.6920C>A (p.Ser2307Ter)

SNV
Germline

Chr5:112842514

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

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

rs_786202324

2 SubmittersRCV002553451

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

rs_759703047

4 SubmittersRCV002382452 RCV003774070

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

rs_750136965

3 SubmittersRCV002158470 RCV002373011

NM_000038.6(APC):c.3441C>G (p.Tyr1147Ter)

SNV
Germline

Chr5:112839035

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2149891970

2 SubmittersRCV004565247

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

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

rs_2149791679

2 SubmittersRCV002255843 RCV004565252

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

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

rs_2149161607

4 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

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
Endometrial carcinoma
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_2112868963

5 SubmittersRCV002257300 RCV003101423 RCV003464416 RCV003458853

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002288387 RCV003546755

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

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

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

3 SubmittersRCV002454952 RCV004565269

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

2 SubmittersRCV002329923 RCV004565280

NM_000038.6(APC):c.3856G>T (p.Glu1286Ter)

SNV
Germline

Chr5:112839450

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002355514 RCV004565273

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

2 SubmittersRCV002460223 RCV004565268

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

2 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

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

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

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

4 SubmittersRCV002355908 RCV003098070

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

4 SubmittersRCV003096813 RCV002345006

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

SNV
Germline

Chr5:112780904

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002361846 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

2 SubmittersRCV002377942 RCV004565321

NM_001048174.2(MUTYH):c.493-3C>G

SNV
Germline

Chr1:45332690

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002359669 RCV003505234

NM_002439.5(MSH3):c.638T>G (p.Leu213Ter)

SNV
Germline

Chr5:80670155

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 4
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002361514 RCV003776251 RCV003458859 RCV004572326

NM_001048174.2(MUTYH):c.936C>G (p.His312Gln)

SNV
Germline

Chr1:45331827

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003614132 RCV002382640

NM_000038.6(APC):c.790C>T (p.Gln264Ter)

SNV
Germline

Chr5:112801339

Pathogenic

Hereditary cancer-predisposing syndrome
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002416678 RCV003973390 RCV004565333

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

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

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

3 SubmittersRCV002366969 RCV003476970 RCV004565320

NM_000038.6(APC):c.1248C>A (p.Tyr416Ter)

SNV
Germline

Chr5:112819280

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003103423 RCV002396359

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

2 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

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

3 SubmittersRCV002401430 RCV003774484

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

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

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

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

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

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

2 SubmittersRCV002401171 RCV004565348

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

2 SubmittersRCV002417906 RCV004565356

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

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

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

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

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

2 SubmittersRCV002430763 RCV004565363

NM_000038.6(APC):c.1929C>T (p.Ser643=)

SNV
Germline

Chr5:112835136

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002410850 RCV004572451

NM_000038.6(APC):c.2212A>T (p.Lys738Ter)

SNV
Germline

Chr5:112837806

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002425880 RCV003337408

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002441457 RCV003775376

NM_000038.6(APC):c.2932C>T (p.Gln978Ter)

SNV
Germline

Chr5:112838526

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003336753 RCV002440084

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

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

2 SubmittersRCV002437596 RCV004571158

NM_000038.6(APC):c.1612G>T (p.Glu538Ter)

SNV
Germline

Chr5:112827992

Pathogenic

Gastric cancer
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003164556 RCV003337414 RCV004067537

NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)

SNV
Germline

Chr1:45333167

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Conflicting Classifications

4 SubmittersRCV003103161 RCV003164711

NM_000038.6(APC):c.778C>T (p.Gln260Ter)

SNV
Germline

Chr5:112801327

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002470038 RCV004067583 RCV004565610

NM_001048174.2(MUTYH):c.1539A>G (p.Ala513=)

SNV
Germline

Chr1:45329333

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002481147 RCV003614198

NM_000038.6(APC):c.4199C>A (p.Ser1400Ter)

SNV
Germline

Chr5:112839793

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004565666

NM_000038.6(APC):c.7570A>T (p.Lys2524Ter)

SNV
Germline

Chr5:112843164

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003068732 RCV003274199

NM_002439.5(MSH3):c.2248C>T (p.Gln750Ter)

SNV
Germline

Chr5:80768998

Pathogenic

Familial adenomatous polyposis 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003458894 RCV003085679

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

2 SubmittersRCV003493977 RCV004565681

NM_002439.5(MSH3):c.47C>G (p.Ser16Ter)

SNV
Germline

Chr5:80654774

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003367986 RCV003091448 RCV003458896

NM_002528.7(NTHL1):c.521G>A (p.Trp174Ter)

SNV
Germline

Chr16:2044634

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 3

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV003084905 RCV003459748

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

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

2 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

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

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

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

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

1 SubmittersRCV004565735

NM_000038.6(APC):c.2522T>G (p.Leu841Ter)

SNV
Germline

Chr5:112838116

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565736

NM_000038.6(APC):c.3463G>T (p.Glu1155Ter)

SNV
Germline

Chr5:112839057

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

2 SubmittersRCV002598501 RCV003167477

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

2 SubmittersRCV002740107 RCV003167671

NM_000038.6(APC):c.721G>T (p.Glu241Ter)

SNV
Germline

Chr5:112792521

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004571263

NM_000038.6(APC):c.4396G>T (p.Gly1466Ter)

SNV
Germline

Chr5:112839990

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004571284

NM_000038.6(APC):c.136-2A>T

SNV
Germline

Chr5:112766324

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004571363

NM_000038.6(APC):c.4561G>T (p.Glu1521Ter)

SNV
Germline

Chr5:112840155

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

2 SubmittersRCV002866065 RCV003458247

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

SNV
Germline

Chr5:112834949

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004571371

NM_000038.6(APC):c.1627-3C>A

SNV
Germline

Chr5:112828853

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003167860 RCV004571792

NM_000038.6(APC):c.5110A>T (p.Lys1704Ter)

SNV
Germline

Chr5:112840704

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004571800

NM_000038.6(APC):c.5020G>T (p.Gly1674Ter)

SNV
Germline

Chr5:112840614

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

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

3 SubmittersRCV002971054 RCV003585321

NM_000038.6(APC):c.3915A>G (p.Ala1305=)

SNV
Germline

Chr5:112839509

Conflicting classifications of pathogenicity

Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004007731 RCV004068307

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

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

2 SubmittersRCV003320906 RCV004572495

NM_002439.5(MSH3):c.359-2A>G

SNV
Germline

Chr5:80665141

Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 4

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003018373 RCV003458889

NM_000038.6(APC):c.4879C>T (p.Gln1627Ter)

SNV
Germline

Chr5:112840473

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004565654

NM_001048174.2(MUTYH):c.421-1G>A

SNV
Germline

Chr1:45332835

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003033736

NM_000038.6(APC):c.1079T>A (p.Leu360Ter)

SNV
Germline

Chr5:112819111

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004572546

NM_001048174.2(MUTYH):c.-6-2A>T

SNV
Germline

Chr1:45334513

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

1 SubmittersRCV002991644

NM_000038.6(APC):c.3883G>T (p.Glu1295Ter)

SNV
Germline

Chr5:112839477

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004572568

NM_000038.6(APC):c.31A>T (p.Lys11Ter)

SNV
Germline

Chr5:112754921

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003031402 RCV003458890

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

2 SubmittersRCV003049772

NM_001048174.2(MUTYH):c.304+1G>A

SNV
Germline

Chr1:45333284

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003027746

NM_000038.6(APC):c.531+1482A>G

SNV
Germline

Chr5:112777219

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004572637

NM_000038.6(APC):c.220+1G>T

SNV
Germline

Chr5:112766411

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004572679

NM_000038.6(APC):c.5953G>T (p.Glu1985Ter)

SNV
Germline

Chr5:112841547

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004572710

NM_000038.6(APC):c.601G>T (p.Glu201Ter)

SNV
Germline

Chr5:112780859

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV003140374

NM_000038.6(APC):c.1743+2T>C

SNV
Germline

Chr5:112828974

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003165107 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

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

2 SubmittersRCV003182814 RCV003459799

NM_002439.5(MSH3):c.1395C>G (p.Tyr465Ter)

SNV
Germline

Chr5:80725507

Pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003182079 RCV003458912 RCV003689051

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

2 SubmittersRCV003177510 RCV004565819

NM_000038.6(APC):c.4222G>T (p.Glu1408Ter)

SNV
Unknown

Chr5:112839816

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003228785

NM_000038.6(APC):c.8446C>T (p.Arg2816Ter)

SNV
Germline

Chr5:112844040

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003310414 RCV004572902

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

2 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

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

1 SubmittersRCV004566071

NM_000038.6(APC):c.135+1G>A

SNV
Germline

Chr5:112755026

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004333282 RCV004566072

NM_000038.6(APC):c.4120G>T (p.Glu1374Ter)

SNV
Germline

Chr5:112839714

Pathogenic/Likely pathogenic

Condition: not provided
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003325645 RCV003337426

NM_000038.6(APC):c.7355T>G (p.Leu2452Ter)

SNV
Unknown

Chr5:112842949

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337427

NM_000038.6(APC):c.3502G>T (p.Glu1168Ter)

SNV
Unknown

Chr5:112839096

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566085

NM_000038.6(APC):c.3055G>T (p.Gly1019Ter)

SNV
Unknown

Chr5:112838649

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337431

NM_000038.6(APC):c.7692G>A (p.Trp2564Ter)

SNV
Unknown

Chr5:112843286

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337432

NM_000038.6(APC):c.4128T>G (p.Tyr1376Ter)

SNV
Unknown

Chr5:112839722

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337433

NM_000038.6(APC):c.3469G>T (p.Glu1157Ter)

SNV
Unknown

Chr5:112839063

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337434

NM_000038.6(APC):c.5083A>T (p.Arg1695Ter)

SNV
Unknown

Chr5:112840677

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566091

NM_000038.6(APC):c.2507C>G (p.Ser836Ter)

SNV
Unknown

Chr5:112838101

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337439

NM_000038.6(APC):c.2869A>T (p.Lys957Ter)

SNV
Unknown

Chr5:112838463

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003336949

NM_000038.6(APC):c.6215T>G (p.Leu2072Ter)

SNV
Unknown

Chr5:112841809

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566107

NM_000038.6(APC):c.7765G>T (p.Glu2589Ter)

SNV
Unknown

Chr5:112843359

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566114

NM_000038.6(APC):c.7336G>T (p.Glu2446Ter)

SNV
Unknown

Chr5:112842930

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566122

NM_000038.6(APC):c.2362A>T (p.Lys788Ter)

SNV
Unknown

Chr5:112837956

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566123

NM_000038.6(APC):c.4691T>A (p.Leu1564Ter)

SNV
Unknown

Chr5:112840285

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337459

NM_000038.6(APC):c.8090C>G (p.Ser2697Ter)

SNV
Germline

Chr5:112843684

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004566126

NM_000038.6(APC):c.7733C>G (p.Ser2578Ter)

SNV
Unknown

Chr5:112843327

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337469

NM_000038.6(APC):c.6437C>A (p.Ser2146Ter)

SNV
Unknown

Chr5:112842031

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566143

NM_000038.6(APC):c.6287C>A (p.Ser2096Ter)

SNV
Unknown

Chr5:112841881

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566150

NM_002439.5(MSH3):c.307A>T (p.Lys103Ter)

SNV
Unknown

Chr5:80656480

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003334480

NM_000038.6(APC):c.3095C>G (p.Ser1032Ter)

SNV
Unknown

Chr5:112838689

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566185

NM_000038.6(APC):c.4552A>T (p.Lys1518Ter)

SNV
Unknown

Chr5:112840146

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566191

NM_000038.6(APC):c.1408+731C>T

SNV
Unknown

Chr5:112822722

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566203

NM_002439.5(MSH3):c.2554C>T (p.Gln852Ter)

SNV
Unknown

Chr5:80792743

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003334724

NM_000038.6(APC):c.4845C>G (p.Tyr1615Ter)

SNV
Unknown

Chr5:112840439

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV004566213

NM_000038.6(APC):c.193C>T (p.Gln65Ter)

SNV
Unknown

Chr5:112766383

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003334798

NM_000038.6(APC):c.1269G>A (p.Trp423Ter)

SNV
Unknown

Chr5:112819301

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566217

NM_000038.6(APC):c.1411G>T (p.Gly471Ter)

SNV
Unknown

Chr5:112827110

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566218

NM_000038.6(APC):c.834+2T>C

SNV
Unknown

Chr5:112801385

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566219

NM_000038.6(APC):c.7709C>A (p.Ser2570Ter)

SNV
Unknown

Chr5:112843303

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566220

NM_000038.6(APC):c.2063C>G (p.Ser688Ter)

SNV
Unknown

Chr5:112837657

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566221

NM_000038.6(APC):c.2055G>A (p.Trp685Ter)

SNV
Unknown

Chr5:112837649

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566222

NM_000038.6(APC):c.1192A>T (p.Lys398Ter)

SNV
Unknown

Chr5:112819224

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337539

NM_000038.6(APC):c.1438C>T (p.Gln480Ter)

SNV
Unknown

Chr5:112827137

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566223

NM_000038.6(APC):c.394G>T (p.Gly132Ter)

SNV
Unknown

Chr5:112767362

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003334827

NM_000038.6(APC):c.298G>T (p.Glu100Ter)

SNV
Unknown

Chr5:112767266

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003334829

NM_000038.6(APC):c.4729G>T (p.Glu1577Ter)

SNV
Unknown

Chr5:112840323

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003334831

NM_000038.6(APC):c.5570C>G (p.Ser1857Ter)

SNV
Unknown

Chr5:112841164

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003334834

NM_000038.6(APC):c.531+1G>T

SNV
Unknown

Chr5:112775738

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566236

NM_000038.6(APC):c.1129A>T (p.Lys377Ter)

SNV
Unknown

Chr5:112819161

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566237

NM_000038.6(APC):c.2468C>A (p.Ser823Ter)

SNV
Unknown

Chr5:112838062

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

2 SubmittersRCV003585383 RCV004566250

NM_000038.6(APC):c.2563G>T (p.Glu855Ter)

SNV
Unknown

Chr5:112838157

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003334867

NM_000038.6(APC):c.3610C>T (p.Gln1204Ter)

SNV
Unknown

Chr5:112839204

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

2 SubmittersRCV003337562 RCV003988110

NM_000038.6(APC):c.423-12A>G

SNV
Unknown

Chr5:112775617

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566255

NM_000038.6(APC):c.1575C>A (p.Cys525Ter)

SNV
Unknown

Chr5:112827955

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 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

2 SubmittersRCV004009750 RCV004566261

NM_000038.6(APC):c.3093T>G (p.Tyr1031Ter)

SNV
Unknown

Chr5:112838687

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566267

NM_000038.6(APC):c.4654G>T (p.Glu1552Ter)

SNV
Unknown

Chr5:112840248

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566268

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

SNV
Unknown

Chr5:112839409

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003334890

NM_000038.6(APC):c.385G>T (p.Glu129Ter)

SNV
Unknown

Chr5:112767353

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337578

NM_000038.6(APC):c.1748C>A (p.Ser583Ter)

SNV
Unknown

Chr5:112834955

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337583

NM_000038.6(APC):c.4230C>A (p.Cys1410Ter)

SNV
Unknown

Chr5:112839824

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004566278

NM_000038.6(APC):c.3778C>T (p.Gln1260Ter)

SNV
Unknown

Chr5:112839372

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

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

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

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

1 SubmittersRCV004564925

NM_000038.6(APC):c.1429G>T (p.Glu477Ter)

SNV
Unknown

Chr5:112827128

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337600

NM_000038.6(APC):c.3175G>T (p.Glu1059Ter)

SNV
Unknown

Chr5:112838769

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004564928

NM_000038.6(APC):c.4429C>T (p.Gln1477Ter)

SNV
Unknown

Chr5:112840023

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004564929

NM_000038.6(APC):c.1958+2T>C

SNV
Unknown

Chr5:112835167

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004564940

NM_000038.6(APC):c.2863G>T (p.Glu955Ter)

SNV
Unknown

Chr5:112838457

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004564943

NM_000038.6(APC):c.1021C>T (p.Gln341Ter)

SNV
Unknown

Chr5:112819053

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004564945

NM_000038.6(APC):c.422+2T>A

SNV
Unknown

Chr5:112767392

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004564947

NM_000038.6(APC):c.2821G>T (p.Glu941Ter)

SNV
Unknown

Chr5:112838415

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004564950

NM_000038.6(APC):c.1479C>G (p.Tyr493Ter)

SNV
Unknown

Chr5:112827178

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337623

NM_000038.6(APC):c.3793G>T (p.Glu1265Ter)

SNV
Unknown

Chr5:112839387

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004564959

NM_000038.6(APC):c.3000C>G (p.Tyr1000Ter)

SNV
Unknown

Chr5:112838594

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004564963

NM_000038.6(APC):c.2841T>A (p.Cys947Ter)

SNV
Unknown

Chr5:112838435

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004564966

NM_000038.6(APC):c.2879C>G (p.Ser960Ter)

SNV
Unknown

Chr5:112838473

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337633

NM_000038.6(APC):c.6386C>A (p.Ser2129Ter)

SNV
Unknown

Chr5:112841980

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004564970

NM_000038.6(APC):c.1378G>T (p.Glu460Ter)

SNV
Unknown

Chr5:112821961

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337641

NM_000038.6(APC):c.4651A>T (p.Lys1551Ter)

SNV
Unknown

Chr5:112840245

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337643

NM_000038.6(APC):c.1178C>A (p.Ser393Ter)

SNV
Unknown

Chr5:112819210

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004564975

NM_000038.6(APC):c.6574A>T (p.Lys2192Ter)

SNV
Unknown

Chr5:112842168

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004564980

NM_000038.6(APC):c.62C>A (p.Ser21Ter)

SNV
Unknown

Chr5:112754952

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337651

NM_000038.6(APC):c.1960C>T (p.Gln654Ter)

SNV
Unknown

Chr5:112837554

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004564989

NM_000038.6(APC):c.6620C>A (p.Ser2207Ter)

SNV
Unknown

Chr5:112842214

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004564991

NM_000038.6(APC):c.621C>A (p.Cys207Ter)

SNV
Unknown

Chr5:112780879

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337659

NM_000038.6(APC):c.7318C>T (p.Gln2440Ter)

SNV
Unknown

Chr5:112842912

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337662

NM_000038.6(APC):c.956T>A (p.Leu319Ter)

SNV
Unknown

Chr5:112818988

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004564999

NM_000038.6(APC):c.2735T>G (p.Leu912Ter)

SNV
Unknown

Chr5:112838329

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003335614

NM_000038.6(APC):c.3980C>A (p.Ser1327Ter)

SNV
Unknown

Chr5:112839574

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337669

NM_000038.6(APC):c.6586A>T (p.Lys2196Ter)

SNV
Unknown

Chr5:112842180

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565010

NM_000038.6(APC):c.1619T>G (p.Leu540Ter)

SNV
Unknown

Chr5:112827999

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565012

NM_000038.6(APC):c.2269C>T (p.Gln757Ter)

SNV
Germline

Chr5:112837863

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004565014

NM_000038.6(APC):c.6983C>G (p.Ser2328Ter)

SNV
Unknown

Chr5:112842577

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337677

NM_000038.6(APC):c.6303G>A (p.Trp2101Ter)

SNV
Unknown

Chr5:112841897

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565015

NM_000038.6(APC):c.6121G>T (p.Glu2041Ter)

SNV
Unknown

Chr5:112841715

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565019

NM_000038.6(APC):c.7387G>T (p.Glu2463Ter)

SNV
Unknown

Chr5:112842981

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337682

NM_000038.6(APC):c.2309C>A (p.Ser770Ter)

SNV
Unknown

Chr5:112837903

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565020

NM_000038.6(APC):c.2752G>T (p.Glu918Ter)

SNV
Unknown

Chr5:112838346

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565021

NM_000038.6(APC):c.5854C>T (p.Gln1952Ter)

SNV
Unknown

Chr5:112841448

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565022

NM_000038.6(APC):c.2891T>A (p.Leu964Ter)

SNV
Unknown

Chr5:112838485

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003335702

NM_000038.6(APC):c.2767A>T (p.Arg923Ter)

SNV
Unknown

Chr5:112838361

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565026

NM_000038.6(APC):c.4933G>T (p.Glu1645Ter)

SNV
Unknown

Chr5:112840527

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565028

NM_000038.6(APC):c.1327G>T (p.Glu443Ter)

SNV
Unknown

Chr5:112821910

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565031

NM_000038.6(APC):c.6419C>G (p.Ser2140Ter)

SNV
Unknown

Chr5:112842013

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337686

NM_000038.6(APC):c.1408+1G>A

SNV
Unknown

Chr5:112821992

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565032

NM_000038.6(APC):c.4508C>A (p.Ser1503Ter)

SNV
Unknown

Chr5:112840102

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565034

NM_000038.6(APC):c.1627-1G>C

SNV
Unknown

Chr5:112828855

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565035

NM_000038.6(APC):c.4588G>T (p.Glu1530Ter)

SNV
Unknown

Chr5:112840182

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003337688

NM_000038.6(APC):c.6950T>G (p.Leu2317Ter)

SNV
Unknown

Chr5:112842544

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565036

NM_000038.6(APC):c.7936C>T (p.Gln2646Ter)

SNV
Unknown

Chr5:112843530

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV004565040

NM_000038.6(APC):c.6169A>T (p.Lys2057Ter)

SNV
Unknown

Chr5:112841763

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565046

NM_000038.6(APC):c.18T>G (p.Tyr6Ter)

SNV
Unknown

Chr5:112754908

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565047

NM_000038.6(APC):c.6940C>T (p.Gln2314Ter)

SNV
Unknown

Chr5:112842534

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565048

NM_002439.5(MSH3):c.2254-2A>G

SNV
Germline

Chr5:80775692

Likely pathogenic

Familial adenomatous polyposis 4
Endometrial carcinoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003459056 RCV003459865 RCV003732590

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

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

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

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

1 SubmittersRCV003463438

NM_000038.6(APC):c.3581C>G (p.Ser1194Ter)

SNV
Unknown

Chr5:112839175

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

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

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

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

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

1 SubmittersRCV003471618

NM_002528.7(NTHL1):c.115+2T>G

SNV
Unknown

Chr16:2047707

Likely pathogenic

Familial adenomatous polyposis 3

Criteria Provided
Single Submitter

1 SubmittersRCV003463213

NM_002528.7(NTHL1):c.397C>T (p.Gln133Ter)

SNV
Unknown

Chr16:2044758

Likely pathogenic

Familial adenomatous polyposis 3

Criteria Provided
Single Submitter

1 SubmittersRCV003471619

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

SNV
Unknown

Chr1:45332164

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003470280

NM_001048174.2(MUTYH):c.378+1G>A

SNV
Unknown

Chr1:45333096

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003463076

NM_001048174.2(MUTYH):c.376C>T (p.Gln126Ter)

SNV
Unknown

Chr1:45333099

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003470281

NM_002439.5(MSH3):c.2655+1G>T

SNV
Unknown

Chr5:80792845

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459052

NM_002439.5(MSH3):c.3000+1G>A

SNV
Unknown

Chr5:80854317

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459053

NM_002439.5(MSH3):c.1454-1G>T

SNV
Unknown

Chr5:80728850

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459054

NM_002439.5(MSH3):c.2543+2T>C

SNV
Germline

Chr5:80787674

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003459055 RCV004364740

NM_002439.5(MSH3):c.3302+1G>A

SNV
Unknown

Chr5:80873288

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459057

NM_002439.5(MSH3):c.579+1G>T

SNV
Unknown

Chr5:80665364

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459058

NM_002439.5(MSH3):c.358+1G>T

SNV
Unknown

Chr5:80656532

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459060

NM_002439.5(MSH3):c.359-1G>C

SNV
Unknown

Chr5:80665142

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459064

NM_002439.5(MSH3):c.85C>T (p.Gln29Ter)

SNV
Unknown

Chr5:80654812

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003459067

NM_002439.5(MSH3):c.971C>G (p.Ser324Ter)

SNV
Unknown

Chr5:80672802

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459069

NM_002439.5(MSH3):c.1303C>T (p.Gln435Ter)

SNV
Unknown

Chr5:80679056

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459070

NM_002439.5(MSH3):c.1527C>G (p.Tyr509Ter)

SNV
Unknown

Chr5:80728924

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459072

NM_002439.5(MSH3):c.2499C>A (p.Cys833Ter)

SNV
Unknown

Chr5:80787628

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459075

NM_002439.5(MSH3):c.2243C>G (p.Ser748Ter)

SNV
Unknown

Chr5:80768993

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459076

NM_002439.5(MSH3):c.3172C>T (p.Gln1058Ter)

SNV
Germline

Chr5:80873157

Pathogenic/Likely pathogenic

Familial adenomatous polyposis 4
Condition: not provided
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003459080 RCV003679210 RCV004574031

NM_002439.5(MSH3):c.1546G>T (p.Glu516Ter)

SNV
Unknown

Chr5:80728943

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459082

NM_002439.5(MSH3):c.1645C>T (p.Gln549Ter)

SNV
Unknown

Chr5:80741540

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459086

NM_002439.5(MSH3):c.557C>A (p.Ser186Ter)

SNV
Unknown

Chr5:80665341

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459088

NM_002439.5(MSH3):c.442C>T (p.Gln148Ter)

SNV
Unknown

Chr5:80665226

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459099

NM_002439.5(MSH3):c.751G>T (p.Glu251Ter)

SNV
Unknown

Chr5:80670268

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459113

NM_002439.5(MSH3):c.2018T>G (p.Leu673Ter)

SNV
Unknown

Chr5:80768054

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459116

NM_002439.5(MSH3):c.2101G>T (p.Glu701Ter)

SNV
Unknown

Chr5:80768851

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459118

NM_002439.5(MSH3):c.2110A>T (p.Lys704Ter)

SNV
Unknown

Chr5:80768860

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459124

NM_002439.5(MSH3):c.1709C>G (p.Ser570Ter)

SNV
Unknown

Chr5:80744561

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459130

NM_002439.5(MSH3):c.61C>T (p.Gln21Ter)

SNV
Unknown

Chr5:80654788

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003459134

NM_001048174.2(MUTYH):c.704+1G>C

SNV
Unknown

Chr1:45332390

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003450436

NM_001048174.2(MUTYH):c.862C>T (p.Gln288Ter)

SNV
Germline

Chr1:45332074

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003450437

NM_002528.7(NTHL1):c.322G>T (p.Glu108Ter)

SNV
Unknown

Chr16:2046160

Pathogenic

Familial adenomatous polyposis 3

Criteria Provided
Single Submitter

1 SubmittersRCV003458299

NM_002528.7(NTHL1):c.565C>T (p.Gln189Ter)

SNV
Unknown

Chr16:2043687

Pathogenic

Familial adenomatous polyposis 3

Criteria Provided
Single Submitter

1 SubmittersRCV003458301

NM_002528.7(NTHL1):c.-9G>T

SNV
Unknown

Chr16:2047832

Pathogenic

Familial adenomatous polyposis 3

Criteria Provided
Single Submitter

1 SubmittersRCV003458302

NM_002528.7(NTHL1):c.805G>T (p.Glu269Ter)

SNV
Unknown

Chr16:2040034

Pathogenic

Familial adenomatous polyposis 3

Criteria Provided
Single Submitter

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

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

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

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

1 SubmittersRCV003484463

NM_001048174.2(MUTYH):c.955G>T (p.Glu319Ter)

SNV
Germline

Chr1:45331808

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003505528

NM_001048174.2(MUTYH):c.304+2T>G

SNV
Germline

Chr1:45333283

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

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

2 SubmittersRCV004565384

NM_000038.6(APC):c.532-1G>T

SNV
Germline

Chr5:112780789

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565453

NM_000038.6(APC):c.1264G>T (p.Glu422Ter)

SNV
Germline

Chr5:112819296

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565455

NM_000038.6(APC):c.4037C>G (p.Ser1346Ter)

SNV
Germline

Chr5:112839631

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565460

NM_000038.6(APC):c.936G>A (p.Val312=)

SNV
Germline

Chr5:112818968

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003584224 RCV004565499

NM_000038.6(APC):c.835-2A>G

SNV
Germline

Chr5:112815493

Likely pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004565505

NM_001048174.2(MUTYH):c.1240-1G>C

SNV
Germline

Chr1:45331335

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

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

2 SubmittersRCV003584433 RCV003779317

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

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

2 SubmittersRCV003614287

NM_000038.6(APC):c.4648G>T (p.Glu1550Ter)

SNV
Germline

Chr5:112840242

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004574157

NM_001048174.2(MUTYH):c.718C>T (p.Gln240Ter)

SNV
Germline

Chr1:45332297

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003613668

NM_000038.6(APC):c.7064C>A (p.Ser2355Ter)

SNV
Germline

Chr5:112842658

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004574227

NM_001048174.2(MUTYH):c.1240-2A>G

SNV
Germline

Chr1:45331336

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003613775

NM_000038.6(APC):c.5396T>G (p.Leu1799Ter)

SNV
Germline

Chr5:112840990

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004574266

NM_000038.6(APC):c.1787C>A (p.Ser596Ter)

SNV
Germline

Chr5:112834994

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004574282

NM_001048174.2(MUTYH):c.607-2A>C

SNV
Germline

Chr1:45332490

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

1 SubmittersRCV003614589

NM_000038.6(APC):c.34C>T (p.Gln12Ter)

SNV
Germline

Chr5:112754924

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004574292

NM_001048174.2(MUTYH):c.127C>T (p.Gln43Ter)

SNV
Germline

Chr1:45333550

Pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

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

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

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

3 SubmittersRCV003811750 RCV004366738

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

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

2 SubmittersRCV004013474

NM_001048174.2(MUTYH):c.850-1G>A

SNV
Germline

Chr1:45332087

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

1 SubmittersRCV004012144

NM_001048174.2(MUTYH):c.115+2T>G

SNV
Germline

Chr1:45334389

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

1 SubmittersRCV004012527

NM_001048174.2(MUTYH):c.1393-2A>G

SNV
Germline

Chr1:45330559

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

1 SubmittersRCV004015174

NM_001128425.2(MUTYH):c.36+1G>T

SNV
Germline

Chr1:45340218

Likely pathogenic

Familial adenomatous polyposis 2

Criteria Provided
Single Submitter

1 SubmittersRCV004015479

NM_000038.6(APC):c.6118C>T (p.Gln2040Ter)

SNV
Unknown

Chr5:112841712

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004440052

NM_002439.5(MSH3):c.1569-2A>G

SNV
Unknown

Chr5:80741462

Likely pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV004442553

NM_002439.5(MSH3):c.1527C>A (p.Tyr509Ter)

SNV
Unknown

Chr5:80728924

Pathogenic

Familial adenomatous polyposis 4

Criteria Provided
Single Submitter

1 SubmittersRCV004442605

NM_000038.6(APC):c.3193C>T (p.Gln1065Ter)

SNV
Germline

Chr5:112838787

Pathogenic

Familial adenomatous polyposis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004576187