ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.585C>T (p.Leu195=) (rs145388314)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755881 SCV000883525 benign not provided 2017-11-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078078 SCV000109916 benign not specified 2013-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000078078 SCV000512425 benign not specified 2015-04-13 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.
Illumina Clinical Services Laboratory,Illumina RCV000021954 SCV000441825 uncertain significance Biotinidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000021954 SCV000630323 benign Biotinidase deficiency 2017-11-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755881 SCV000889232 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021954 SCV000042623 benign Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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