ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2510G>A (p.Arg837Gln)

gnomAD frequency: 0.00001  dbSNP: rs773908748
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758577 SCV001995554 uncertain significance not provided 2023-05-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001758577 SCV002269123 likely benign not provided 2023-12-20 criteria provided, single submitter clinical testing

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