Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000588294 | SCV000528896 | likely benign | not provided | 2021-02-03 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001087136 | SCV000554720 | likely benign | Ehlers-Danlos syndrome, type 4 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588294 | SCV000695355 | benign | not provided | 2016-04-04 | criteria provided, single submitter | clinical testing | Variant Summary: The c.1617C>T variant involves the alteration of a non-conserved nucleotide resulting in a synonymous change. 5/5 in silico tools via Alamut predict no significant effect on splicing. The variant was observed in the large, broad control population, ExAC with, an allele frequency of 0.007%. This frequency exceeds the maximum expected allele frequency for a pathogenic COL3A1 variant (0.0001%), suggesting this is a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant has been classified as Benign. |
Color Diagnostics, |
RCV000772005 | SCV000904961 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-10-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000772005 | SCV002705816 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-08-20 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000772005 | SCV003838684 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-08-12 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV001087136 | SCV004824681 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000588294 | SCV005433735 | likely benign | not provided | 2024-09-01 | criteria provided, single submitter | clinical testing | COL3A1: BP4, BP7 |