ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.2520+46C>G

gnomAD frequency: 0.75311  dbSNP: rs2384934
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000830172 SCV000971907 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001776049 SCV002014370 benign Aortic aneurysm, familial thoracic 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776050 SCV002014371 benign Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776051 SCV002014372 benign Visceral myopathy 2 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000830172 SCV005290201 benign not provided criteria provided, single submitter not provided

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