ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1886A>T (p.Tyr629Phe)

gnomAD frequency: 0.00001  dbSNP: rs1297047638
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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 RCV001196795 SCV001367428 uncertain significance Pituitary adenoma 5, multiple types 2019-11-12 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP3.

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