ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1212-8C>T

gnomAD frequency: 0.00005  dbSNP: rs370921440
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199440 SCV000250654 benign not specified 2015-04-15 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.
PreventionGenetics, part of Exact Sciences RCV000199440 SCV000309352 likely benign not specified criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000415889 SCV000493144 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001409838 SCV001611872 likely benign Shprintzen-Goldberg syndrome 2021-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004017479 SCV004849293 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-09-30 criteria provided, single submitter clinical testing The c.1212-8C>T intronic alteration consists of a C to T substitution 8 nucleotides before coding exon 4 in the SKI gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.