ClinVar Miner

Submissions for variant NM_001382430.1(AKT1):c.747G>T (p.Arg249=)

dbSNP: rs2140907069
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001441214 SCV001644136 likely benign Cowden syndrome 6 2019-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004988634 SCV005588746 likely benign Inborn genetic diseases 2024-10-28 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.

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