ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)

dbSNP: rs397514362
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000021930 SCV000798550 pathogenic Biotinidase deficiency 2018-03-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV000021930 SCV004211486 pathogenic Biotinidase deficiency 2024-02-09 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000021930 SCV004804918 pathogenic Biotinidase deficiency 2024-03-17 criteria provided, single submitter research

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