ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.330C>T (p.His110=)

gnomAD frequency: 0.00005  dbSNP: rs201232514
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592942 SCV000705647 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000592942 SCV001057466 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000592942 SCV001752149 likely benign not provided 2020-08-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835867 SCV002086258 likely benign Usher syndrome type 1 2020-05-13 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004543359 SCV004776773 likely benign CDH23-related disorder 2019-11-18 no assertion criteria provided 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).

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