ClinVar Miner

Submissions for variant NM_001382430.1(AKT1):c.1260+18A>G

gnomAD frequency: 0.00001  dbSNP: rs762981122
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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 RCV002156893 SCV002325846 likely benign Cowden syndrome 6 2022-10-24 criteria provided, single submitter clinical testing

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