ClinVar Miner

Submissions for variant NM_017909.4(RMND1):c.661G>C (p.Gly221Arg)

gnomAD frequency: 0.00003  dbSNP: rs1275538949
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002267243 SCV002549233 uncertain significance not provided 2022-01-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002496206 SCV002783527 uncertain significance Combined oxidative phosphorylation defect type 11 2022-04-20 criteria provided, single submitter clinical testing

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