ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3293+6G>A

gnomAD frequency: 0.00009  dbSNP: rs370658839
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000868077 SCV000395356 uncertain significance Aortic aneurysm, familial thoracic 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV001718663 SCV000729160 likely benign not provided 2019-10-22 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659910 SCV000781814 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000334746 SCV000913641 benign Familial thoracic aortic aneurysm and aortic dissection 2018-09-29 criteria provided, single submitter clinical testing
Invitae RCV000868077 SCV001009368 likely benign Aortic aneurysm, familial thoracic 4 2024-01-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000334746 SCV004823527 benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-30 criteria provided, single submitter clinical testing

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.