ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3681C>T (p.Ala1227=)

gnomAD frequency: 0.00015  dbSNP: rs201663473
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311214 SCV000320552 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-12-02 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.
Invitae RCV001080530 SCV000770583 likely benign Aortic aneurysm, familial thoracic 7 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000658970 SCV000780773 likely benign not provided 2017-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000658970 SCV001812214 likely benign not provided 2020-10-14 criteria provided, single submitter clinical testing

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