ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile)

gnomAD frequency: 0.00001  dbSNP: rs755812129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002493502 SCV002775686 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2021-09-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280208 SCV001467368 uncertain significance Usher syndrome type 1 2020-04-15 no assertion criteria provided clinical testing

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