ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2818-50G>C

gnomAD frequency: 0.76931  dbSNP: rs2471532
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000114191 SCV000314540 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578861 SCV001806210 benign Bardet-Biedl syndrome 14 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578862 SCV001806211 benign Joubert syndrome 5 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578863 SCV001806212 benign Meckel syndrome, type 4 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578864 SCV001806213 benign Senior-Loken syndrome 6 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001647121 SCV001856685 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001647121 SCV005234248 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000114191 SCV000147744 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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