ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1177C>A (p.Pro393Thr)

gnomAD frequency: 0.00004  dbSNP: rs556692411
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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 RCV001891807 SCV002170371 benign not provided 2022-12-13 criteria provided, single submitter clinical testing
GeneDx RCV001891807 SCV005390757 uncertain significance not provided 2024-04-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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