ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.804G>A (p.Lys268=)

dbSNP: rs1228716242
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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 RCV001442014 SCV001644955 likely benign Holocarboxylase synthetase deficiency 2022-10-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001442014 SCV002083747 likely benign Holocarboxylase synthetase deficiency 2021-07-17 no assertion criteria provided clinical testing

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