ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5227-23dup

dbSNP: rs747878752
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001509979 SCV001716901 benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501750 SCV002811167 likely benign Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-07-26 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699561 SCV001922095 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699561 SCV001928795 benign not specified no assertion criteria provided clinical testing

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