ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8421C>T (p.Ser2807=)

gnomAD frequency: 0.00007  dbSNP: rs755841293
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 RCV000921708 SCV001067120 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276053 SCV001461881 uncertain significance Usher syndrome type 1 2020-01-24 no assertion criteria provided clinical testing

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