ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1143+1G>A (rs397517974)

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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 RCV000041697 SCV000065393 pathogenic Rare genetic deafness 2011-02-16 criteria provided, single submitter clinical testing The 1143+1G>A variant in USH2A has not been reported in the literature. The 1143 +1G>A variant is predicted to cause abnormal splicing because the nucleotide sub stitution occurs in the invariant region of the splice consensus sequence. In su mmary, this variant meets our criteria to be classified as pathogenic.
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV001199582 SCV001162753 pathogenic Cone-rod dystrophy 2020-01-09 criteria provided, single submitter research

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