ClinVar Miner

Submissions for variant NM_001382430.1(AKT1):c.634-13C>T

gnomAD frequency: 0.00002  dbSNP: rs754944632
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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 RCV002201892 SCV002492175 likely benign Cowden syndrome 6 2023-08-27 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989753 SCV004808151 benign Schizophrenia 2024-03-29 criteria provided, single submitter clinical testing

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