ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3985G>A (p.Glu1329Lys)

gnomAD frequency: 0.00003  dbSNP: rs774304709
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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 RCV001919039 SCV002179058 likely benign not provided 2024-12-12 criteria provided, single submitter clinical testing
GeneDx RCV001919039 SCV004168118 uncertain significance not provided 2023-10-19 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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