ClinVar Miner

Submissions for variant NM_133497.4(KCNV2):c.454G>T (p.Asp152Tyr)

dbSNP: rs377667539
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262251 SCV001440049 uncertain significance Cone dystrophy with supernormal rod response 2019-01-01 criteria provided, single submitter clinical testing

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