Submissions for variant NM_000350.3(ABCA4):c.5836-11G>A

gnomAD frequency: 0.20309  dbSNP: rs1800739

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000152715	SCV000166751	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)	RCV000152715	SCV000202101	benign	not specified	2017-12-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000152715	SCV000303769	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000281163	SCV000359244	likely benign	Stargardt Disease, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000336246	SCV000359245	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000407106	SCV000359246	likely benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000313494	SCV000359247	likely benign	Cone-Rod Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001096229	SCV001252426	benign	ABCA4-related disorder	2018-01-12	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152715	SCV001652925	benign	not specified	2020-06-04	criteria provided, single submitter	clinical testing	The c.5836-11G>A variant in ABCA4 is classified as benign because it has been identified in 25.8% (6425/24908) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
Invitae	RCV000085763	SCV001723899	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548896	SCV001768898	benign	Severe early-childhood-onset retinal dystrophy	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548897	SCV001768899	benign	Retinitis pigmentosa 19	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548898	SCV001768900	benign	Cone-rod dystrophy 3	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548899	SCV001768901	benign	Age related macular degeneration 2	2021-07-14	criteria provided, single submitter	clinical testing
Retina International	RCV000085763	SCV000117904	not provided	not provided		no assertion provided	not provided
GenomeConnect, ClinGen	RCV000085763	SCV000607280	not provided	not provided		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000152715	SCV001742361	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000152715	SCV001957127	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000152715	SCV001975230	benign	not specified		no assertion criteria provided	clinical testing