ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1344C>T (p.Phe448=)

gnomAD frequency: 0.00007  dbSNP: rs781065270
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 RCV000944594 SCV001090566 likely benign Biotinidase deficiency 2024-07-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000944594 SCV002081577 likely benign Biotinidase deficiency 2020-04-24 no assertion criteria provided clinical testing

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