ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2346C>A (p.Asp782Glu)

gnomAD frequency: 0.00001  dbSNP: rs769588312
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001772416 SCV001994165 uncertain significance not provided 2019-07-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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 RCV001772416 SCV002265442 likely benign not provided 2023-05-15 criteria provided, single submitter clinical testing

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