ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8146del (p.Asp2716fs)

gnomAD frequency: 0.00001  dbSNP: rs1564804195
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001256636 SCV001431019 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12 2020-09-02 criteria provided, single submitter clinical testing ACMG criteria used for classification: PVS1, PM2.
Baylor Genetics RCV003473838 SCV004210663 likely pathogenic Pituitary adenoma 5, multiple types 2023-06-29 criteria provided, single submitter clinical testing

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