ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1668C>A (p.Ser556=)

dbSNP: rs771923409
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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 RCV001448420 SCV001651511 likely benign Holocarboxylase synthetase deficiency 2023-06-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001448420 SCV003813232 uncertain significance Holocarboxylase synthetase deficiency 2021-08-19 criteria provided, single submitter clinical testing

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