ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.1132C>T (p.Arg378Trp)

dbSNP: rs146783539
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000754589 SCV000845183 uncertain significance Cone-rod dystrophy 15 2018-08-21 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002067009 SCV002345787 likely benign not provided 2022-11-12 criteria provided, single submitter clinical testing

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