ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.1380G>A (p.Gly460=)

gnomAD frequency: 0.00002  dbSNP: rs373168555
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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) RCV000591588 SCV000706955 uncertain significance not provided 2017-03-30 criteria provided, single submitter clinical testing
GeneDx RCV000591588 SCV002769953 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000591588 SCV004344554 likely benign not provided 2024-09-13 criteria provided, single submitter clinical testing

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