ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2983C>T (p.Gln995Ter)

dbSNP: rs527236135
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132711 SCV000172664 pathogenic Usher syndrome type 2A no assertion criteria provided not provided Converted during submission to Pathogenic.

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