ClinVar Miner

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

gnomAD frequency: 0.01730  dbSNP: rs114567021
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000313163 SCV000331077 benign not specified 2016-09-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755227 SCV000602899 benign not provided 2017-12-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000755227 SCV005264655 likely benign not provided criteria provided, single submitter not provided

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