ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5187+4G>A

gnomAD frequency: 0.00001  dbSNP: rs752015536
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001278267 SCV001465265 uncertain significance Usher syndrome type 1 2020-04-16 no assertion criteria provided clinical testing

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