ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2544C>T (p.Gly848=)

gnomAD frequency: 0.00032  dbSNP: rs142437842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614354 SCV000725591 likely benign not specified 2018-01-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000934561 SCV001080284 benign Holocarboxylase synthetase deficiency 2024-01-16 criteria provided, single submitter clinical testing

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