ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.364C>T (p.Gln122Ter)

dbSNP: rs1555502665
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002086748 SCV002320796 likely pathogenic Infantile convulsions and choreoathetosis 2022-01-01 criteria provided, single submitter clinical testing

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