ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.788A>G (p.Asp263Gly)

dbSNP: rs1428656431
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001290422 SCV001763705 pathogenic Pontocerebellar hypoplasia type 1A criteria provided, single submitter clinical testing
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris RCV001290422 SCV001478444 likely pathogenic Pontocerebellar hypoplasia type 1A no assertion criteria provided clinical testing

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