ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9207dup (p.Ile3070fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005046356 SCV005680329 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2024-04-09 criteria provided, single submitter clinical testing

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