ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2715G>A (p.Ala905=)

gnomAD frequency: 0.00001  dbSNP: rs759903345
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 RCV002541737 SCV003262762 likely benign not provided 2023-09-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280212 SCV001467372 uncertain significance Usher syndrome type 1 2020-04-15 no assertion criteria provided clinical testing

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