ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2381del (p.Pro794fs) (rs1555166218)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659399 SCV000781210 pathogenic Stickler syndrome type 1 2016-11-01 criteria provided, single submitter clinical testing
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV001269590 SCV001449684 pathogenic not provided 2017-09-06 criteria provided, single submitter clinical testing
GeneDx RCV001269590 SCV001826466 pathogenic not provided 2020-09-24 criteria provided, single submitter clinical testing Reported in ClinVar as a pathogenic variant but additional evidence is not available (ClinVar Variant ID# 547258; Landrum et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 10486316)

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