ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.134_137ATCC[4] (p.Leu49fs) (rs1205964567)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169475 SCV000220921 likely pathogenic Biotinidase deficiency 2014-11-26 criteria provided, single submitter literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759005 SCV000888014 pathogenic not provided 2018-07-06 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000169475 SCV000042565 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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