ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2992A>G (p.Arg998Gly)

dbSNP: rs794727135
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174816 SCV000226186 uncertain significance not provided 2014-11-24 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816263 SCV005072601 likely pathogenic Retinal dystrophy 2020-01-01 no assertion criteria provided clinical testing

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