ClinVar Miner

Submissions for variant NM_001851.5(COL9A1):c.1349A>G (p.Glu450Gly) (rs77706858)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000175423 SCV000226900 benign not specified 2014-11-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000175423 SCV000308329 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000954924 SCV000529351 likely benign not provided 2020-12-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26770814, 24828792, 27353947)
Invitae RCV000954924 SCV001101591 benign not provided 2020-11-26 criteria provided, single submitter clinical testing
Mendelics RCV000987736 SCV001137175 likely benign Multiple epiphyseal dysplasia 6 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000954924 SCV001143281 likely benign not provided 2019-06-07 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000954924 SCV001797603 likely benign not provided no assertion criteria provided clinical testing

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