ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3192C>T (p.Ala1064=)

gnomAD frequency: 0.00001  dbSNP: rs767119185
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000982288 SCV001130302 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000982288 SCV004126728 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing CDH23: BP4, BP7
Natera, Inc. RCV001277721 SCV001464690 likely benign Usher syndrome type 1 2020-09-17 no assertion criteria provided clinical testing

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