ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1014T>C (p.His338=)

gnomAD frequency: 0.00004  dbSNP: rs371365798
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000871677 SCV001013367 likely benign Biotinidase deficiency 2025-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000871677 SCV002081567 likely benign Biotinidase deficiency 2020-04-24 no assertion criteria provided clinical testing

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