ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer)

dbSNP: rs1890356742
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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 RCV001195825 SCV001366245 likely pathogenic Prader-Willi syndrome 2018-11-16 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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