ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4105-2A>T

gnomAD frequency: 0.00001  dbSNP: rs1416386069
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199451 SCV001162434 pathogenic Usher syndrome type 1 2020-01-09 criteria provided, single submitter research

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