ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter) (rs397514416)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022005 SCV000220888 likely pathogenic Biotinidase deficiency 2014-11-14 criteria provided, single submitter literature only
Research and Development, ARUP Laboratories RCV000022005 SCV000042675 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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