ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.717G>A (p.Ser239=)

gnomAD frequency: 0.00002  dbSNP: rs146960026
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527705 SCV000650570 likely benign Aortic aneurysm, familial thoracic 7 2023-11-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001264560 SCV001442769 likely benign not specified 2020-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159892 SCV003855218 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-01-08 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.

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