ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.2473C>A (p.Pro825Thr)

dbSNP: rs201515900
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000333669 SCV000365456 uncertain significance Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000970405 SCV001117982 benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV002056147 SCV002496136 benign Cone-rod dystrophy 15 2022-02-08 criteria provided, single submitter clinical testing ACMG categories: BA1,BS1,BP2

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