ClinVar Miner

Submissions for variant NM_014362.4(HIBCH):c.958A>G (p.Lys320Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Department, Xiangya Hospital, Central South University RCV003233009 SCV002761222 uncertain significance 3-hydroxyisobutyryl-CoA hydrolase deficiency criteria provided, single submitter clinical testing This variant was observed in compound heterozygosity with variant (c.439-2A>G)

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