ClinVar Miner

Submissions for variant NM_020686.6(ABAT):c.631C>T (p.Leu211Phe) (rs724159990)

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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 RCV000149898 SCV000148965 pathogenic Gamma-aminobutyric acid transaminase deficiency 2014-01-01 criteria provided, single submitter research clinical and in vitro studies
Elsea Laboratory,Baylor College of Medicine RCV000149898 SCV000920599 pathogenic Gamma-aminobutyric acid transaminase deficiency 2019-02-01 criteria provided, single submitter clinical testing

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