ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2349C>T (p.Leu783=)

gnomAD frequency: 0.00002  dbSNP: rs138952612
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002191706 SCV002490342 likely benign Holocarboxylase synthetase deficiency 2023-11-13 criteria provided, single submitter clinical testing

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