ClinVar Miner

Submissions for variant NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly)

dbSNP: rs2118977758
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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 RCV002211035 SCV002496394 likely pathogenic Pontocerebellar hypoplasia type 1B 2022-01-01 criteria provided, single submitter clinical testing

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