ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.477A>C (p.Val159=)

gnomAD frequency: 0.00002  dbSNP: rs779019472
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612596 SCV000722685 likely benign not specified 2017-09-22 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 RCV002064048 SCV002432115 likely benign Holocarboxylase synthetase deficiency 2022-06-17 criteria provided, single submitter clinical testing

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