ClinVar Miner

Submissions for variant NM_001382430.1(AKT1):c.687C>T (p.Tyr229=)

gnomAD frequency: 0.00002  dbSNP: rs769696222
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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 RCV000557115 SCV000653510 likely benign Cowden syndrome 6 2023-06-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367944 SCV002665639 likely benign Inborn genetic diseases 2022-04-02 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.
CeGaT Center for Human Genetics Tuebingen RCV003403329 SCV004135311 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing AKT1: BP4, BP7

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