ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7245G>A (p.Val2415=)

gnomAD frequency: 0.00009  dbSNP: rs751865337
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001476646 SCV001680858 likely benign not provided 2023-11-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826308 SCV002093333 likely benign Usher syndrome type 1 2020-04-20 no assertion criteria provided clinical testing

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