ClinVar Miner

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

gnomAD frequency: 0.00006  dbSNP: rs587778046
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163521 SCV000214079 likely benign Hereditary cancer-predisposing syndrome 2019-11-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000199434 SCV000252939 likely benign Familial adenomatous polyposis 1 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001704030 SCV000293586 likely benign not provided 2021-06-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327, 26530882, 28135048, 28195569, 28873162, 25479140)
Color Diagnostics, LLC DBA Color Health RCV000163521 SCV000681920 likely benign Hereditary cancer-predisposing syndrome 2020-11-10 criteria provided, single submitter clinical testing
Counsyl RCV000199434 SCV000784916 uncertain significance Familial adenomatous polyposis 1 2017-02-08 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV001704030 SCV002503285 uncertain significance not provided 2020-05-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120047 SCV002773890 benign not specified 2021-07-28 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000199434 SCV004018766 likely benign Familial adenomatous polyposis 1 2023-02-21 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
ITMI RCV000120047 SCV000084181 not provided not specified 2013-09-19 no assertion provided reference population
3DMed Clinical Laboratory Inc RCV000677785 SCV000803941 uncertain significance Neoplasm of the liver 2018-05-21 no assertion criteria provided clinical testing
3DMed Clinical Laboratory Inc RCV000677786 SCV000803942 uncertain significance Hepatocellular carcinoma 2018-05-21 no assertion criteria provided clinical testing
3DMed Clinical Laboratory Inc RCV000677787 SCV000803943 uncertain significance Intrahepatic cholangiocarcinoma 2018-05-21 no assertion criteria provided clinical testing

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