ClinVar Miner

Submissions for variant NM_001382430.1(AKT1):c.1188C>T (p.Ser396=)

dbSNP: rs911689817
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000950956 SCV001149353 likely benign not provided 2018-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001462135 SCV001666047 likely benign Cowden syndrome 6 2021-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307758 SCV004000054 likely benign Inborn genetic diseases 2023-04-07 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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