ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.560C>A (p.Thr187Lys)

dbSNP: rs184606223
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001555835 SCV001777311 uncertain significance not provided 2024-01-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001555835 SCV002193249 benign not provided 2025-01-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001555835 SCV003831149 uncertain significance not provided 2022-04-08 criteria provided, single submitter clinical testing

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