ClinVar Miner

Submissions for variant NM_014927.5(CNKSR2):c.73G>A (p.Asp25Asn)

dbSNP: rs2090566346
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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 RCV001197185 SCV001367821 uncertain significance Intellectual disability, X-linked, syndromic, Houge type 2019-12-12 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,PP3,BP1.

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