ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.755G>A (p.Arg252Gln) (rs139573483)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247298 SCV000308434 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000247298 SCV000706480 likely benign not specified 2017-03-22 criteria provided, single submitter clinical testing
Invitae RCV000971976 SCV001119660 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000971976 SCV001143305 benign not provided 2019-03-21 criteria provided, single submitter clinical testing
GeneDx RCV000971976 SCV001816951 likely benign not provided 2020-11-23 criteria provided, single submitter clinical testing

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