ClinVar Miner

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

dbSNP: rs397517974
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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 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
Genome-Nilou Lab RCV003445116 SCV004172211 pathogenic Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445115 SCV004172213 pathogenic Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003445116 SCV004200682 pathogenic Retinitis pigmentosa 39 2023-06-11 criteria provided, single submitter clinical testing

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