ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.4086C>T (p.Ser1362=) (rs779774302)

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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 RCV000586451 SCV000231257 uncertain significance not provided 2017-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000242483 SCV000319324 likely benign Cardiovascular phenotype 2015-09-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000179065 SCV000695374 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
GeneDx RCV000179065 SCV000728079 likely benign not specified 2018-02-26 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.
Invitae RCV000586451 SCV000756078 likely benign not provided 2018-10-16 criteria provided, single submitter clinical testing
Color Health, Inc RCV001175639 SCV001339312 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-16 criteria provided, single submitter clinical testing
Invitae RCV001394806 SCV001596496 likely benign Ehlers-Danlos syndrome, type 4 2020-03-11 criteria provided, single submitter clinical testing

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