ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1147T>A (p.Phe383Ile)

gnomAD frequency: 0.00003  dbSNP: rs368746938
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764941 SCV001989475 uncertain significance not provided 2019-11-15 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001764941 SCV004694745 benign not provided 2023-11-13 criteria provided, single submitter clinical testing

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