ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.4000G>C (p.Gly1334Arg)

gnomAD frequency: 0.00009  dbSNP: rs200574827
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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) RCV000179171 SCV000231374 uncertain significance not provided 2014-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000179171 SCV001805429 uncertain significance not provided 2019-08-08 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 (ClinVar Variant ID# 197985; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Revvity Omics, Revvity RCV000179171 SCV003831167 uncertain significance not provided 2022-06-23 criteria provided, single submitter clinical testing

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