ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2268A>G (p.Ser756=)

dbSNP: rs2468255
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000860175 SCV001000143 benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578865 SCV001806214 benign Bardet-Biedl syndrome 14 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578866 SCV001806215 benign Joubert syndrome 5 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578867 SCV001806216 benign Meckel syndrome, type 4 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578868 SCV001806217 benign Senior-Loken syndrome 6 2021-07-22 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888505 SCV004707690 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV004706509 SCV005234251 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000114186 SCV000147739 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.
Natera, Inc. RCV001271586 SCV001452853 benign Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000114186 SCV001741437 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000114186 SCV001966785 benign not specified no assertion criteria provided clinical testing

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