ClinVar Miner

Submissions for variant NM_001382430.1(AKT1):c.47-13C>T

gnomAD frequency: 0.00009  dbSNP: rs529203460
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002095177 SCV002386314 likely benign Cowden syndrome 6 2023-01-26 criteria provided, single submitter clinical testing

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