ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2067G>A (p.Gln689=)

dbSNP: rs2089984668
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002090638 SCV002375717 likely benign Holocarboxylase synthetase deficiency 2023-08-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004758862 SCV005363028 likely benign HLCS-related disorder 2019-08-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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