ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5857-3C>A (rs727505114)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156568 SCV000206287 uncertain significance not specified 2014-05-22 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The 5857-3C>A v ariant in MYO7A has been reported one individual with hearing loss but was absen t in large population studies (LMM unpublished data). A second variant in MYO7A was not identified in this individual. This variant is located in the 3' splice region. Computational tools suggest an impact to splicing. However, this informa tion is not predictive enough to determine pathogenicity. In summary, while the available data on the 5857-3C>A variant is suspicious for pathogenicity, the cli nical significance of this variant is uncertain.
Counsyl RCV000672871 SCV000798019 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2018-02-23 criteria provided, single submitter clinical testing

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