ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.1803C>T (p.Pro601=) (rs148275339)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710760 SCV000841062 benign not provided 2018-05-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000381981 SCV000343484 benign not specified 2016-06-27 criteria provided, single submitter clinical testing
GeneDx RCV000381981 SCV000516883 benign not specified 2016-11-04 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.
Invitae RCV000555118 SCV000627187 benign Osteogenesis imperfecta type I 2018-01-03 criteria provided, single submitter clinical testing

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