ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4289-13del

gnomAD frequency: 0.00009  dbSNP: rs779252356
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000310787 SCV000440284 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001705511 SCV000714414 likely benign not provided 2019-11-25 criteria provided, single submitter clinical testing
Invitae RCV002057827 SCV002469792 benign Aortic aneurysm, familial thoracic 7 2024-01-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002230716 SCV002511913 benign not specified 2022-04-05 criteria provided, single submitter clinical testing

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