ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.1305+1G>A

dbSNP: rs1408583008
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199065 SCV001370060 pathogenic Pontocerebellar hypoplasia type 6 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3.

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