ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3934del (p.Ala1312fs)

dbSNP: rs2102464166
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV002210931 SCV002496140 pathogenic Usher syndrome type 2A 2020-10-05 criteria provided, single submitter clinical testing ACMG categories: PVS1,PS5,PM2
Dept Of Ophthalmology, Nagoya University RCV003889102 SCV004708016 likely pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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