ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8411A>G (p.Lys2804Arg)

gnomAD frequency: 0.00010  dbSNP: rs137853912
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 RCV000086978 SCV003285719 likely benign not provided 2024-10-03 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV000086978 SCV000119231 not provided not provided no assertion provided not provided

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