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

dbSNP: rs2468255

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000860175	SCV001000143	benign	Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis	2024-02-01	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
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