ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1632T>C (p.Asp544=)

dbSNP: rs2146336458
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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 RCV001505191 SCV001710083 likely benign Holocarboxylase synthetase deficiency 2022-05-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704634 SCV005206279 likely benign not provided criteria provided, single submitter not provided

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