ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) (rs35034250)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434224 SCV000512426 benign not specified 2017-10-26 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000434224 SCV000602900 benign not specified 2017-02-22 criteria provided, single submitter clinical testing
Invitae RCV000021984 SCV000630320 benign Biotinidase deficiency 2017-04-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000434224 SCV000702620 benign not specified 2016-10-26 criteria provided, single submitter clinical testing
Counsyl RCV000021984 SCV000800816 likely benign Biotinidase deficiency 2018-06-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985643 SCV001134037 benign not provided 2019-05-03 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021984 SCV000042654 benign Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000021984 SCV000734252 benign Biotinidase deficiency no assertion criteria provided clinical testing

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