ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7182T>C (p.Ser2394=)

gnomAD frequency: 0.00002  dbSNP: rs777420141
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588316 SCV000694110 likely benign not specified 2019-08-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775347 SCV000909626 likely benign Hereditary cancer-predisposing syndrome 2017-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767323 SCV001021890 likely benign Familial adenomatous polyposis 1 2024-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000775347 SCV001188446 likely benign Hereditary cancer-predisposing syndrome 2019-07-06 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.
Myriad Genetics, Inc. RCV003767323 SCV005084494 benign Familial adenomatous polyposis 1 2024-04-09 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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