ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4431C>T (p.Gly1477=)

gnomAD frequency: 0.00004  dbSNP: rs763102268
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
Invitae RCV000976816 SCV001124725 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273544 SCV001456681 uncertain significance Usher syndrome type 1 2020-04-15 no assertion criteria provided clinical testing

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