ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.494-25TC[4]

dbSNP: rs146532042
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000306027 SCV000436062 uncertain significance Holocarboxylase synthetase deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000480375 SCV000565061 likely benign not specified 2017-09-28 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 RCV000306027 SCV002368452 benign Holocarboxylase synthetase deficiency 2024-01-31 criteria provided, single submitter clinical testing

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