ClinVar Miner

Submissions for variant NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) (rs1114167288)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000491605 SCV000992774 uncertain significance Beta-hydroxyisobutyryl-CoA deacylase deficiency 2017-12-31 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000491605 SCV000282196 pathogenic Beta-hydroxyisobutyryl-CoA deacylase deficiency 2016-01-10 no assertion criteria provided research
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000491605 SCV001133085 likely pathogenic Beta-hydroxyisobutyryl-CoA deacylase deficiency 2019-09-26 no assertion criteria provided clinical testing

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