ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.-94C>T (rs114567021)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755227 SCV000602899 benign not provided 2017-12-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000313163 SCV000331077 benign not specified 2016-09-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000022029 SCV000441819 likely benign Biotinidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000313163 SCV000600942 benign not specified 2017-06-29 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000022029 SCV000042704 benign Biotinidase deficiency 2017-02-17 criteria provided, single submitter clinical testing Seen with c.566A>G,p.D189G.

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