Submissions for variant NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)

gnomAD frequency: 0.20473  dbSNP: rs4147857

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000211879	SCV000166750	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.
PreventionGenetics, part of Exact Sciences	RCV000211879	SCV000303768	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000349633	SCV000359248	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000402778	SCV000359249	likely benign	Stargardt Disease, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000309928	SCV000359250	likely benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000364498	SCV000359251	likely benign	Cone-Rod Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000085761	SCV000602327	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001096230	SCV001252427	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	RCV000085761	SCV001720647	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001549136	SCV001769237	benign	Severe early-childhood-onset retinal dystrophy	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001549137	SCV001769238	benign	Retinitis pigmentosa 19	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001549138	SCV001769239	benign	Cone-rod dystrophy 3	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001549139	SCV001769240	benign	Age related macular degeneration 2	2021-07-14	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888478	SCV004706525	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Retina International	RCV000085761	SCV000117902	not provided	not provided		no assertion provided	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000211879	SCV001741160	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000211879	SCV001955971	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000211879	SCV001965294	benign	not specified		no assertion criteria provided	clinical testing