ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.281G>T (p.Gly94Val) (rs375712490)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000021918 SCV000796685 likely pathogenic Biotinidase deficiency 2017-12-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759007 SCV000888016 pathogenic not provided 2015-12-22 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021918 SCV000042587 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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