ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)

gnomAD frequency: 0.00001  dbSNP: rs1306944669
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672734 SCV000797869 likely pathogenic Biotinidase deficiency 2018-02-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV000672734 SCV004211485 pathogenic Biotinidase deficiency 2024-01-22 criteria provided, single submitter clinical testing

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