ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2094+1G>A (rs111033404)

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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, Partners HealthCare Personalized Medicine RCV000036075 SCV000059727 pathogenic Rare genetic deafness 2010-12-23 criteria provided, single submitter clinical testing The 2094+1G>A variant in MYO7A has not been reported in the literature nor previ ously identified by our laboratory. The 2094+1G>A variant is predicted to cause abnormal splicing because the nucleotide substitution occurs in the invariant re gion of the splice consensus sequence. In summary, this variant meets our criter ia to be classified as pathogenic.

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