ClinVar Miner

Submissions for variant NM_014362.4(HIBCH):c.2T>C (p.Met1Thr)

gnomAD frequency: 0.52671  dbSNP: rs291466
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440239 SCV000517593 benign not specified 2015-12-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001509616 SCV001716437 benign Beta-hydroxyisobutyryl-CoA deacylase deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001509616 SCV001934144 benign Beta-hydroxyisobutyryl-CoA deacylase deficiency 2021-08-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676752 SCV000802553 benign not provided 2016-02-16 no assertion criteria provided clinical testing

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