ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.2838T>G (p.Pro946=) (rs1555572418)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000710767 SCV000704942 uncertain significance not provided 2017-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000592677 SCV000717719 likely benign not specified 2017-03-29 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 RCV000710767 SCV000841070 uncertain significance not provided 2018-12-26 criteria provided, single submitter clinical testing
Invitae RCV001081361 SCV001126890 likely benign Osteogenesis imperfecta type I 2019-07-24 criteria provided, single submitter clinical testing

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