ClinVar Miner

Submissions for variant NM_001382430.1(AKT1):c.855C>T (p.Asp285=)

gnomAD frequency: 0.00013  dbSNP: rs149484260
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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 RCV000460148 SCV000562061 likely benign Cowden syndrome 6 2023-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446905 SCV002676796 likely benign Inborn genetic diseases 2022-03-20 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 RCV003409648 SCV004135310 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing AKT1: BP4, BP7

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