ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9198+10G>A

gnomAD frequency: 0.00004  dbSNP: rs758760731
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002537829 SCV003452696 likely benign not provided 2023-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945959 SCV004764038 likely benign CDH23-related condition 2019-12-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001279081 SCV001466142 uncertain significance Usher syndrome type 1 2020-04-17 no assertion criteria provided clinical testing

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