ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1869C>T (p.Pro623=)

dbSNP: rs769822408
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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 RCV002199793 SCV002351775 likely benign Holocarboxylase synthetase deficiency 2021-08-12 criteria provided, single submitter clinical testing

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