ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2040G>A (p.Gln680=)

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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 RCV003865600 SCV004664441 likely benign Holocarboxylase synthetase deficiency 2023-01-12 criteria provided, single submitter clinical testing

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