ClinVar Miner

Submissions for variant NM_005465.7(AKT3):c.1104A>G (p.Thr368=)

gnomAD frequency: 0.00004  dbSNP: rs774883413
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001487565 SCV001692057 likely benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 2024-12-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541836 SCV004787448 likely benign AKT3-related disorder 2019-04-24 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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