ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2550T>C (p.Pro850=)

gnomAD frequency: 0.00003  dbSNP: rs794727586
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724608 SCV000229807 uncertain significance not provided 2015-03-18 criteria provided, single submitter clinical testing
GeneDx RCV000724608 SCV000512694 likely benign not provided 2020-08-14 criteria provided, single submitter clinical testing
Invitae RCV001080848 SCV000631645 likely benign Ehlers-Danlos syndrome, type 4 2023-12-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001181041 SCV001346102 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001181041 SCV002742952 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-05-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV003323427 SCV004029066 likely benign not specified 2023-07-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001080848 SCV004833724 likely benign Ehlers-Danlos syndrome, type 4 2024-01-11 criteria provided, single submitter clinical testing

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