ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.5121C>T (p.Arg1707=)

gnomAD frequency: 0.00022  dbSNP: rs144436556
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471078 SCV000560664 likely benign Aortic aneurysm, familial thoracic 7 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001721537 SCV000718225 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001170113 SCV000739259 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-10-14 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170113 SCV001332652 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000610192 SCV001338308 benign not specified 2020-02-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001721537 SCV004563412 likely benign not provided 2023-09-25 criteria provided, single submitter clinical testing

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