ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.504G>A (p.Leu168=)

dbSNP: rs2066944309
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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 RCV001440534 SCV001643444 likely benign Holocarboxylase synthetase deficiency 2023-06-23 criteria provided, single submitter clinical testing

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