ClinVar Miner

Submissions for variant NM_015971.4(MRPS7):c.83+23C>G

dbSNP: rs62085969
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000835554 SCV000977347 benign not provided 2018-06-14 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 RCV001776055 SCV002014261 benign Combined oxidative phosphorylation deficiency 34 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000835554 SCV005251719 benign not provided criteria provided, single submitter not provided

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