ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.627C>T (p.Gly209=) (rs201136122)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726816 SCV000703266 uncertain significance not provided 2016-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000593031 SCV000721676 likely benign not specified 2017-08-21 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.
Illumina Clinical Services Laboratory,Illumina RCV000298870 SCV000404200 uncertain significance Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355982 SCV000404201 uncertain significance Infantile cortical hyperostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392198 SCV000404202 uncertain significance Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000531775 SCV000627274 benign Osteogenesis imperfecta type I 2017-06-29 criteria provided, single submitter clinical testing

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