ClinVar Miner

Submissions for variant NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter) (rs863225062)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000201262 SCV001443057 likely pathogenic Beta-hydroxyisobutyryl-CoA deacylase deficiency 2020-03-01 criteria provided, single submitter clinical testing Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PVS1_Strong,PM2,PM3_Supporting
OMIM RCV000201262 SCV000255994 pathogenic Beta-hydroxyisobutyryl-CoA deacylase deficiency 2014-12-01 no assertion criteria provided literature only

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