ClinVar Miner

Submissions for variant NM_014362.4(HIBCH):c.529G>C (p.Asp177His)

dbSNP: rs1315908015
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333044 SCV001525529 uncertain significance 3-hydroxyisobutyryl-CoA hydrolase deficiency 2019-03-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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