ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.777C>A (p.Thr259=)

gnomAD frequency: 0.00001  dbSNP: rs542798557
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000944783 SCV001090763 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000944783 SCV004700768 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CDH23: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003960561 SCV004771001 likely benign CDH23-related condition 2023-12-06 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. RCV001275417 SCV001460567 likely benign Usher syndrome type 1 2020-04-11 no assertion criteria provided clinical testing

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