ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4153-7C>A (rs369489756)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156864 SCV000206585 uncertain significance not specified 2014-11-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.4153-7C>A var iant in MYO7A has not been previously reported in individuals with hearing loss or in large population studies. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing, though this informati on is not predictive enough to rule out pathogenicity. In summary, while the cl inical significance of the c.4153-7C>A variant is uncertain, the splicing data s uggest that it is more likely to be benign.
Counsyl RCV000666882 SCV000791250 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000841788 SCV000983772 likely benign not provided 2018-04-24 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.

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