ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3352C>A (p.Gln1118Lys)

gnomAD frequency: 0.00003  dbSNP: rs369849667
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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) RCV000353277 SCV000340023 uncertain significance not provided 2016-04-05 criteria provided, single submitter clinical testing
GeneDx RCV000353277 SCV001993809 uncertain significance not provided 2019-05-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance but additional evidence is not available (ClinVar Variant ID# 286542; Landrum et al., 2016); 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000353277 SCV002268828 benign not provided 2024-01-12 criteria provided, single submitter clinical testing

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