ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) (rs147936946)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224096 SCV000281493 uncertain significance not provided 2016-01-21 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV001089449 SCV000627258 benign Osteogenesis imperfecta type I 2020-08-25 criteria provided, single submitter clinical testing
GeneDx RCV000602706 SCV000730523 likely benign not specified 2017-01-26 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.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659363 SCV000781174 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000602706 SCV000856208 likely benign not specified 2017-08-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000602706 SCV001476968 benign not specified 2020-06-15 criteria provided, single submitter clinical testing

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