ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3698G>A (p.Arg1233His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002948847 SCV003276749 likely benign not provided 2023-07-03 criteria provided, single submitter clinical testing
GeneDx RCV002948847 SCV003803391 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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