ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.-17G>C

gnomAD frequency: 0.00011  dbSNP: rs767563168
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Total submissions: 2
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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 RCV000238648 SCV000296986 uncertain significance Aortic aneurysm, familial thoracic 4 2015-10-30 criteria provided, single submitter clinical testing
GeneDx RCV001697687 SCV000732069 likely benign not provided 2022-08-04 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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