ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)

dbSNP: rs1057518914
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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 RCV000415122 SCV000492894 likely pathogenic Hypertelorism; Micrognathia; Low-set ears; Deep philtrum; Specific learning disability; Triangular face; Low anterior hairline; Mitral valve prolapse; Gastroesophageal reflux; Low posterior hairline; Abnormality of the lower limb; Thoracolumbar scoliosis; Clinodactyly; Ventricular septal defect 2015-02-13 criteria provided, single submitter clinical testing

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