ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3652-6C>T

gnomAD frequency: 0.00219  dbSNP: rs193922630
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126940 SCV000170471 benign not specified 2013-05-20 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.
CSER _CC_NCGL, University of Washington RCV000211469 SCV000212206 likely benign Aortic aneurysm, familial thoracic 6 2015-03-11 criteria provided, single submitter research
Invitae RCV000232470 SCV000285787 benign Aortic aneurysm, familial thoracic 4 2024-01-25 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000126940 SCV000306178 benign not specified 2016-04-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001092822 SCV000604351 benign not provided 2023-05-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000232470 SCV000744021 benign Aortic aneurysm, familial thoracic 4 2016-06-27 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659911 SCV000781815 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769667 SCV000901078 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-07-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769667 SCV000902835 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092822 SCV001249516 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing MYH11: BP4, BS2
Illumina Laboratory Services, Illumina RCV000232470 SCV001280150 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030297 SCV000052964 benign Familial aortopathy 2014-04-18 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000232470 SCV000745967 likely benign Aortic aneurysm, familial thoracic 4 2014-02-04 flagged submission clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001092822 SCV001800338 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000126940 SCV001807237 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001092822 SCV001954739 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001092822 SCV001967626 likely benign not provided no assertion criteria provided clinical testing

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