ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.993_994del (p.Arg331fs)

dbSNP: rs1571703801
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994255 SCV001147682 likely pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199578 SCV001162749 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Blueprint Genetics RCV001074944 SCV001240551 likely pathogenic Retinal dystrophy 2017-08-15 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV002286426 SCV002576452 pathogenic Usher syndrome type 2A 2022-09-06 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_206933.4:c.13342_13347del._x000D_ Criteria applied: PVS1, PM3_STR, PM2_SUP
Genome-Nilou Lab RCV003455031 SCV004182920 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002286426 SCV004182921 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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