ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6845T>G (p.Leu2282Ter)

dbSNP: rs2102458475
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001842255 SCV002102442 pathogenic Usher syndrome type 2A 2022-02-15 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_206933.4:c.8682-9A>G._x000D_ Criteria applied: PVS1, PM2_SUP, PM3_SUP

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