ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.3760A>G (p.Asn1254Asp)

dbSNP: rs2032268470
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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 RCV001196433 SCV001367041 likely benign Smith-Magenis syndrome 2018-10-10 criteria provided, single submitter clinical testing This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: PM2,BP1,BP4.

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