ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2424-12G>T

dbSNP: rs727503257
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151271 SCV000199193 uncertain significance not specified 2014-02-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 2424-12G>T vari ant in MYH7 has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing, though this information is not predictive enough to rule out pathogenicity. Although th is data supports that this variant may be benign, additional studies are needed to fully assess its clinical significance.

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