Submissions for variant NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)

gnomAD frequency: 0.23813  dbSNP: rs1801574

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000178425	SCV000166749	benign	not specified	2012-10-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000178425	SCV000230501	benign	not specified	2014-06-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000178425	SCV000303766	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000321911	SCV000359256	likely benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000376557	SCV000359257	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000263057	SCV000359258	likely benign	Stargardt Disease, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000318478	SCV000359259	likely benign	Cone-Rod Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000085750	SCV000602328	benign	not provided	2023-11-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001096233	SCV001252430	benign	ABCA4-Related Disorders	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000085750	SCV001720648	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001549144	SCV001769245	benign	Severe early-childhood-onset retinal dystrophy	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001549145	SCV001769246	benign	Retinitis pigmentosa 19	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001549146	SCV001769247	benign	Cone-rod dystrophy 3	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001549147	SCV001769248	benign	Age related macular degeneration 2	2021-07-14	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888477	SCV004706559	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Retina International	RCV000085750	SCV000117891	not provided	not provided		no assertion provided	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000178425	SCV001740490	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000178425	SCV001954364	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000178425	SCV001972553	benign	not specified		no assertion criteria provided	clinical testing