ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1041C>T (p.Gly347=)

gnomAD frequency: 0.00086  dbSNP: rs142421934
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000371736 SCV000334665 benign not specified 2015-08-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000352964 SCV000441828 uncertain significance Biotinidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000371736 SCV000518360 likely benign not specified 2015-08-10 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.
Invitae RCV000352964 SCV000630319 benign Biotinidase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000371736 SCV001470279 benign not specified 2020-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000352964 SCV001653439 likely benign Biotinidase deficiency 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000352964 SCV002081568 benign Biotinidase deficiency 2019-10-21 no assertion criteria provided clinical testing

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