ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.1984-5C>A (rs66592376)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000177437 SCV000612896 benign not specified 2017-07-17 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659353 SCV000781164 uncertain significance Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514224 SCV000609655 likely benign not provided 2017-08-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177437 SCV000229293 benign not specified 2015-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000177437 SCV000512685 benign not specified 2017-12-20 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 RCV000544575 SCV000627192 benign Osteogenesis imperfecta type I 2017-12-21 criteria provided, single submitter clinical testing

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