ClinVar Miner

Submissions for variant NM_133497.4(KCNV2):c.153T>G (p.Tyr51Ter)

dbSNP: rs950492553
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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 Goettingen RCV001327982 SCV001513328 likely pathogenic Cone dystrophy with supernormal rod response 2020-07-02 criteria provided, single submitter clinical testing This variant was found within clinical testing. It is absent from gnomAD and is predicted to be damaging. This variant is not described elsewhere, but it fits to the symptoms of the patient. In summary and using ACMG criteria PVS1, PM2 we classify this variant as Likely Pathogenic.

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