ClinVar Miner

Submissions for variant NM_000273.3(GPR143):c.548+2T>C

dbSNP: rs2083438278
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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 RCV002086747 SCV002320795 pathogenic Ocular albinism, type I 2022-01-01 criteria provided, single submitter clinical testing

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