ClinVar Miner

Submissions for variant NM_005465.7(AKT3):c.807C>T (p.Tyr269=)

gnomAD frequency: 0.00044  dbSNP: rs150205993
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001643515 SCV001858118 benign not provided 2020-04-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072973 SCV002343739 benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 2024-09-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001643515 SCV004127441 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing AKT3: BP4, BP7, BS1

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