ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.792A>G (p.Gly264=) (rs113304344)

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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 RCV000593829 SCV000703683 uncertain significance not provided 2016-12-15 criteria provided, single submitter clinical testing
Invitae RCV000593829 SCV001006228 likely benign not provided 2018-04-05 criteria provided, single submitter clinical testing
Invitae RCV001476799 SCV001681013 likely benign Ehlers-Danlos syndrome, type 4 2020-01-30 criteria provided, single submitter clinical testing
Color Health, Inc RCV001524472 SCV001734333 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-08-03 criteria provided, single submitter clinical testing

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