ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5772C>G (p.Leu1924=)

gnomAD frequency: 0.00002  dbSNP: rs774511118
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000269365 SCV000395194 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000326740 SCV000395195 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000269365 SCV000902155 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-02-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000269365 SCV001343966 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001458306 SCV001662125 likely benign Aortic aneurysm, familial thoracic 4 2023-10-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422266 SCV004141210 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing MYH11: BP4, BP7
All of Us Research Program, National Institutes of Health RCV000269365 SCV004815487 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000269365 SCV005139119 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-05-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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