ClinVar Miner

Submissions for variant NM_001985.3(ETFB):c.292C>T (p.Arg98Cys) (rs147353781)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185874 SCV000238826 benign not specified 2014-07-17 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658852 SCV000780649 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Invitae RCV001086047 SCV001013135 likely benign Multiple acyl-CoA dehydrogenase deficiency 2020-09-09 criteria provided, single submitter clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171332 SCV001328279 uncertain significance Chronic kidney disease 2020-05-28 criteria provided, single submitter research

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