Submissions for variant NM_000350.3(ABCA4):c.1240-14C>T

gnomAD frequency: 0.47169  dbSNP: rs4147830

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000173677	SCV000166765	benign	not specified	2011-08-16	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)	RCV000173677	SCV000224816	benign	not specified	2014-11-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000173677	SCV000303745	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000275590	SCV000359527	benign	Cone-Rod Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000332943	SCV000359528	benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000389891	SCV000359529	benign	Stargardt Disease, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000288568	SCV000359530	benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001096639	SCV001252864	benign	ABCA4-Related Disorders	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae	RCV000085380	SCV001726885	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548782	SCV001768746	benign	Severe early-childhood-onset retinal dystrophy	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548783	SCV001768747	benign	Retinitis pigmentosa 19	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548784	SCV001768748	benign	Cone-rod dystrophy 3	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548785	SCV001768749	benign	Age related macular degeneration 2	2021-07-14	criteria provided, single submitter	clinical testing
Retina International	RCV000085380	SCV000117517	not provided	not provided		no assertion provided	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000173677	SCV001739875	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000173677	SCV001957640	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000173677	SCV001967518	benign	not specified		no assertion criteria provided	clinical testing