ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)

gnomAD frequency: 0.00015  dbSNP: rs376210604
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244702 SCV001417944 likely benign Holocarboxylase synthetase deficiency 2024-08-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV001244702 SCV003835285 uncertain significance Holocarboxylase synthetase deficiency 2022-06-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001244702 SCV002083732 uncertain significance Holocarboxylase synthetase deficiency 2019-12-29 no assertion criteria provided clinical testing

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