ClinVar Miner

Submissions for variant NM_020686.6(ABAT):c.1433T>C (p.Leu478Pro) (rs724159991)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bonnen Lab,Baylor College of Medicine RCV000149899 SCV000148967 pathogenic Gamma-aminobutyric acid transaminase deficiency 2014-01-01 criteria provided, single submitter research clinical and in vitro studies
OMIM RCV000149899 SCV000599472 pathogenic Gamma-aminobutyric acid transaminase deficiency 2010-02-01 no assertion criteria provided literature only

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