ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4686C>T (p.Asp1562=)

gnomAD frequency: 0.00001  dbSNP: rs72541812
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426373 SCV000525406 likely benign not specified 2016-11-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV004563340 SCV000647530 likely benign Familial adenomatous polyposis 1 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572790 SCV000676344 likely benign Hereditary cancer-predisposing syndrome 2017-08-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000426373 SCV001362490 likely benign not specified 2019-12-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000572790 SCV004361330 likely benign Hereditary cancer-predisposing syndrome 2022-11-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000416 SCV004820402 likely benign Classic or attenuated familial adenomatous polyposis 2023-11-20 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004563340 SCV004931943 benign Familial adenomatous polyposis 1 2024-03-27 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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