ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) (rs397514333)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000021900 SCV000800810 likely benign Biotinidase deficiency 2018-04-20 criteria provided, single submitter clinical testing
GeneDx RCV000427971 SCV000521147 likely benign not specified 2016-11-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000427971 SCV000593787 uncertain significance not specified 2015-11-12 criteria provided, single submitter clinical testing
Invitae RCV000021900 SCV000754950 benign Biotinidase deficiency 2017-09-22 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021900 SCV000042568 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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