ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3182G>A (p.Arg1061Gln)

gnomAD frequency: 0.00001  dbSNP: rs528982644
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000400579 SCV000345388 uncertain significance not provided 2016-09-05 criteria provided, single submitter clinical testing
GeneDx RCV000400579 SCV001781076 uncertain significance not provided 2020-06-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 290761; Landrum et al., 2016)
Labcorp Genetics (formerly Invitae), Labcorp RCV000400579 SCV002140370 benign not provided 2023-11-27 criteria provided, single submitter clinical testing

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