ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.561+13G>A

dbSNP: rs755556712
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842667 SCV000984697 likely benign not provided 2018-05-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003512082 SCV004283184 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2024-01-29 criteria provided, single submitter clinical testing

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