ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.1888C>G (p.Pro630Ala)

dbSNP: rs1184373480
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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 RCV001196913 SCV001367547 uncertain significance Smith-Magenis syndrome 2020-01-27 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,BP1.

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