ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1718C>T (p.Thr573Met)

dbSNP: rs202011565
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001594283 SCV001826554 uncertain significance not provided 2019-08-26 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 RCV001594283 SCV002204104 benign not provided 2024-10-03 criteria provided, single submitter clinical testing

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