ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.2181-30C>T

gnomAD frequency: 0.05943  dbSNP: rs2293736
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000830167 SCV000971902 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 RCV001776046 SCV002014378 benign Aortic aneurysm, familial thoracic 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776047 SCV002014379 benign Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776048 SCV002014380 benign Visceral myopathy 2 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000830167 SCV005290204 benign not provided criteria provided, single submitter not provided

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