ClinVar Miner

Submissions for variant NM_001085372.3(UQCC3):c.265G>A (p.Gly89Ser)

gnomAD frequency: 0.68239  dbSNP: rs13941
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438581 SCV000517908 benign not specified 2015-12-02 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.
Genome-Nilou Lab RCV001554498 SCV001775744 benign Mitochondrial complex III deficiency nuclear type 9 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062294 SCV002489028 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002062294 SCV005316730 benign not provided criteria provided, single submitter not provided

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