ClinVar Miner

Submissions for variant NM_001382430.1(AKT1):c.567+9G>A

gnomAD frequency: 0.00002  dbSNP: rs200724383
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000867862 SCV001009132 likely benign Cowden syndrome 6 2023-08-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930372 SCV004746920 likely benign AKT1-related disorder 2019-10-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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