ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.250-15del (rs587783008)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000144063 SCV000800261 uncertain significance Biotinidase deficiency 2018-05-29 criteria provided, single submitter clinical testing
Mendelics RCV000144063 SCV001136338 likely pathogenic Biotinidase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories RCV000144063 SCV000189136 pathogenic Biotinidase deficiency no assertion criteria provided clinical testing
Research and Development, ARUP Laboratories RCV000144063 SCV000845796 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only Enzyme activity @ 1.8 U/L. Seen with c.626G>A;p.R209H.

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