ClinVar Miner

Submissions for variant NM_001382430.1(AKT1):c.693C>T (p.Asn231=)

gnomAD frequency: 0.00001  dbSNP: rs767346459
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537685 SCV000653511 likely benign Cowden syndrome 6 2022-07-19 criteria provided, single submitter clinical testing

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