ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3545C>A (p.Pro1182Gln)

gnomAD frequency: 0.00001  dbSNP: rs1411737210
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002269402 SCV002552575 uncertain significance not provided 2022-07-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV002269402 SCV003786343 benign not provided 2024-01-27 criteria provided, single submitter clinical testing

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