ClinVar Miner

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

dbSNP: rs369489756
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Total submissions: 5
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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 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 Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000841788 SCV000983772 likely benign not provided 2020-08-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21602428)
Invitae RCV000841788 SCV001535646 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271758 SCV001453184 uncertain significance Usher syndrome type 1B 2020-04-16 no assertion criteria provided clinical testing

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