ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6063C>T (p.Phe2021=)

gnomAD frequency: 0.00001  dbSNP: rs786203342
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166610 SCV000217414 likely benign Hereditary cancer-predisposing syndrome 2014-10-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV004562370 SCV000259648 likely benign Familial adenomatous polyposis 1 2023-10-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166610 SCV000911740 likely benign Hereditary cancer-predisposing syndrome 2016-11-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995517 SCV004838140 likely benign Classic or attenuated familial adenomatous polyposis 2023-11-02 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004562370 SCV005083800 benign Familial adenomatous polyposis 1 2024-04-03 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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