ClinVar Miner

Submissions for variant NM_001985.3(ETFB):c.521G>A (p.Arg174His)

gnomAD frequency: 0.00130  dbSNP: rs141917423
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000224154 SCV000238828 likely benign not provided 2019-08-07 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224154 SCV000280898 likely benign not provided 2016-01-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001088837 SCV001014268 likely benign Multiple acyl-CoA dehydrogenase deficiency 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927723 SCV004747765 likely benign ETFB-related condition 2022-02-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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