ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.623A>G (p.Asp208Gly) (rs587783004)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories RCV000144059 SCV000189132 pathogenic Biotinidase deficiency no assertion criteria provided clinical testing
Research and Development, ARUP Laboratories RCV000144059 SCV000845811 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only Enzyme activity @ 2.4 U/L.Seen with c.1330G>C;p.D444H.

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