ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5614-5G>A

gnomAD frequency: 0.00001  dbSNP: rs201028938
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001183515 SCV001349265 benign Familial thoracic aortic aneurysm and aortic dissection 2019-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001474519 SCV001678690 likely benign Aortic aneurysm, familial thoracic 4 2023-02-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001183515 SCV004824323 benign Familial thoracic aortic aneurysm and aortic dissection 2023-06-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001183515 SCV005139115 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-05-07 criteria provided, single submitter clinical testing The c.5614-5G>A intronic variant results from a G to A substitution 5 nucleotides upstream from coding exon 39 in the MYH11 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this variant remains unclear.

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