ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.1034-12T>G

gnomAD frequency: 0.00020  dbSNP: rs184847335
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711350 SCV000234836 likely benign not provided 2020-07-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000182491 SCV000306161 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094381 SCV000395389 uncertain significance Aortic aneurysm, familial thoracic 4 2018-01-12 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680559 SCV000807972 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000282466 SCV000913679 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-06-04 criteria provided, single submitter clinical testing
Invitae RCV001094381 SCV002483510 benign Aortic aneurysm, familial thoracic 4 2024-01-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000282466 SCV004823260 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-02-05 criteria provided, single submitter clinical testing

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