ClinVar Miner

Submissions for variant NM_000089.3(COL1A2):c.87T>C (p.Thr29=) (rs1801182)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176976 SCV000228771 benign not specified 2015-11-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275828 SCV000470551 benign Ehlers-Danlos syndrome, procollagen proteinase deficient 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333509 SCV000470552 benign Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000176976 SCV000516444 benign not specified 2016-06-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000176976 SCV000612925 benign not specified 2012-09-27 criteria provided, single submitter clinical testing

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