ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val)

dbSNP: rs201526850
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002487622 SCV002775587 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2021-09-16 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787738 SCV000926741 uncertain significance Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
Clinical Genetics, Academic Medical Center RCV001698511 SCV001917031 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001698511 SCV001958166 uncertain significance not provided no assertion criteria provided clinical testing

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