ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.1221C>A (p.Gly407=)

dbSNP: rs765175526
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313426 SCV000739295 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-23 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 RCV000999539 SCV001156211 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Invitae RCV001476864 SCV001681082 likely benign Aortic aneurysm, familial thoracic 7 2022-07-19 criteria provided, single submitter clinical testing

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