ClinVar Miner

Submissions for variant NM_177965.4(CFAP418):c.155+2T>C

dbSNP: rs1085307121
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000477722 SCV000564242 pathogenic Cone-rod dystrophy 16 2021-07-06 no assertion criteria provided literature only
Clinical Genetics, Academic Medical Center RCV001701020 SCV001917683 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701020 SCV001953655 pathogenic not provided no assertion criteria provided clinical testing

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