ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4717T>C (p.Ser1573Pro)

gnomAD frequency: 0.00001  dbSNP: rs865904271
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765169 SCV001991861 uncertain significance not provided 2019-04-18 criteria provided, single submitter clinical testing 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 RCV001765169 SCV002984218 benign not provided 2022-10-25 criteria provided, single submitter clinical testing

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