ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.*1302T>C

gnomAD frequency: 0.00373  dbSNP: rs113046889
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000354732 SCV000440231 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing

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