ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.1132C>G (p.Arg378Gly)

gnomAD frequency: 0.00111  dbSNP: rs11920433
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704521 SCV000533349 likely benign not provided 2021-12-21 criteria provided, single submitter clinical testing
Invitae RCV000457454 SCV000560682 likely benign Aortic aneurysm, familial thoracic 7 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313130 SCV000739268 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-09-30 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.
Fulgent Genetics, Fulgent Genetics RCV002481333 SCV002803678 likely benign Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 2021-07-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330678 SCV004039013 likely benign not specified 2023-08-10 criteria provided, single submitter clinical testing

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