ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.1237+1G>A

dbSNP: rs759922477
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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 Munich, Klinikum Rechts Der Isar, TU München RCV000578404 SCV000680356 pathogenic Pontocerebellar hypoplasia type 6 2017-12-07 criteria provided, single submitter clinical testing

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