ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.1311G>A (p.Lys437=)

gnomAD frequency: 0.00016  dbSNP: rs111284724
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435485 SCV000520043 likely benign not specified 2015-10-19 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 RCV002062383 SCV002459419 likely benign 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2022-01-07 criteria provided, single submitter clinical testing

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