Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703525 | SCV000515411 | likely benign | not provided | 2020-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000772006 | SCV000738547 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-03-20 | 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. |
Color Diagnostics, |
RCV000772006 | SCV000904962 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-09-04 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000434555 | SCV000919239 | benign | not specified | 2017-10-10 | criteria provided, single submitter | clinical testing | Variant summary: The COL3A1 c.3228C>T (p.Pro1076Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 12/246140 control chromosomes, predominantly observed in the Ashkenazi Jewish subpopulation at a frequency of 0.000508 (5/9846). This frequency is about 406 times the estimated maximal expected allele frequency of a pathogenic COL3A1 variant (0.0000013), suggesting this is likely a benign polymorphism found primarily in the populations of Ashkenazi Jewish origin. In addition, one other clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign. |
Labcorp Genetics |
RCV000868526 | SCV001009866 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-12-19 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000868526 | SCV004829483 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001703525 | SCV005262402 | likely benign | not provided | criteria provided, single submitter | not provided |