ClinVar Miner

Submissions for variant NM_001085372.3(UQCC3):c.226T>G (p.Trp76Gly)

gnomAD frequency: 0.00781  dbSNP: rs143509965
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000427950 SCV000510845 likely benign not provided 2016-12-30 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000602327 SCV000730849 benign not specified 2017-02-15 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 RCV000427950 SCV001041816 benign not provided 2023-12-12 criteria provided, single submitter clinical testing

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