ClinVar Miner

Submissions for variant NM_001382430.1(AKT1):c.436-18C>A

gnomAD frequency: 0.00001  dbSNP: rs746274769
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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 RCV002137366 SCV002410974 likely benign Cowden syndrome 6 2023-08-31 criteria provided, single submitter clinical testing

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