ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4230C>T (p.Asp1410=)

gnomAD frequency: 0.00004  dbSNP: rs762720558
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000979819 SCV001127766 likely benign not provided 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000979819 SCV001784939 likely benign not provided 2018-12-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000979819 SCV005228207 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001832273 SCV002093813 likely benign Usher syndrome type 1 2020-03-22 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004535995 SCV004723657 likely benign CDH23-related disorder 2020-12-15 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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