ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.395C>G (p.Thr132Arg) (rs587783003)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985647 SCV001134042 likely pathogenic not provided 2019-04-30 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data are high quality. Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories RCV000144057 SCV000189130 pathogenic Biotinidase deficiency no assertion criteria provided clinical testing
Research and Development, ARUP Laboratories RCV000144057 SCV000845803 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only Enzyme activity @ 1.8 U/L. Seen with c.1330G>C;p.D444H.

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