ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.843C>A (p.Val281=)

gnomAD frequency: 0.00001  dbSNP: rs1344958210
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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 RCV001428748 SCV001631455 likely benign Biotinidase deficiency 2023-03-10 criteria provided, single submitter clinical testing

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