ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5367A>G (p.Val1789=)

dbSNP: rs1765934357
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003771402 SCV001647705 likely benign Familial adenomatous polyposis 1 2022-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350887 SCV002645117 likely benign Hereditary cancer-predisposing syndrome 2022-01-23 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. RCV003771402 SCV005084378 benign Familial adenomatous polyposis 1 2024-04-02 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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