ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1200+1G>A (rs397516283)

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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 RCV000036042 SCV000059694 pathogenic Rare genetic deafness 2010-08-17 criteria provided, single submitter clinical testing The 1200+1G>A variant in MYO7A has not been reported in the literature nor previ ously identified by our laboratory. The 1200+1G>A variant is predicted to cause abnormal splicing because the nucleotide substitution occurs in the invariant re gion of the splice consensus sequence. Therefore, this variant meets our criteri a to be classified as pathogenic.
Counsyl RCV000672265 SCV000797356 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2018-01-23 criteria provided, single submitter clinical testing

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