ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4773G>A (p.Arg1591=)

gnomAD frequency: 0.00005  dbSNP: rs747923542
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774325 SCV000908027 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-16 criteria provided, single submitter clinical testing
Invitae RCV001446906 SCV001649959 likely benign Aortic aneurysm, familial thoracic 4 2023-09-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774325 SCV002638678 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-09-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV003326493 SCV004033459 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing MYH11: BP4, BP7

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