ClinVar Miner

Submissions for variant NM_181503.3(EXOSC8):c.734dup (p.Ala246fs)

dbSNP: rs773616244
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090328 SCV001245815 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Goettingen RCV002254333 SCV002525452 likely pathogenic Pontocerebellar hypoplasia, type 1C 2022-03-24 criteria provided, single submitter clinical testing

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