ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3910C>A (p.His1304Asn)

dbSNP: rs758161864
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238856 SCV000297359 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2015-07-30 criteria provided, single submitter clinical testing

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