ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1696G>A (p.Val566Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002675542 SCV002984562 benign not provided 2023-01-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002675542 SCV005286731 benign not provided criteria provided, single submitter not provided
GeneDx RCV002675542 SCV005390183 uncertain significance not provided 2024-04-19 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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