ClinVar Miner

Submissions for variant NM_001199198.3(TBC1D23):c.1687+2T>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Chelly Lab, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg University - CNRS UMR 7104 - Inserm U 964 RCV000515797 SCV000537311 pathogenic Pontoneocerebellar hypoplasia 2016-01-02 no assertion criteria provided research
OMIM RCV000508992 SCV000606754 pathogenic Pontocerebellar hypoplasia, type 11 2017-09-29 no assertion criteria provided literature only

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