Submissions for variant NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly)

gnomAD frequency: 0.02649  dbSNP: rs17103671

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176224	SCV000227841	benign	not specified	2015-02-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000005276	SCV000385445	likely benign	Leber congenital amaurosis 6	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV001083379	SCV000763551	benign	Cone-rod dystrophy 13; Leber congenital amaurosis 6	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000835646	SCV000977446	benign	not provided	2021-01-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20981092, 27884173, 15800011, 11528500, 16272259, 29343940)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000835646	SCV001159331	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000176224	SCV002050998	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
OMIM	RCV000005276	SCV000025454	pathogenic	Leber congenital amaurosis 6	2005-05-15	no assertion criteria provided	literature only
Clinical Genetics, Academic Medical Center	RCV000176224	SCV001918342	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000176224	SCV001927754	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000176224	SCV001963826	benign	not specified		no assertion criteria provided	clinical testing