Submissions for variant NM_000350.3(ABCA4):c.1500G>A (p.Arg500=)

gnomAD frequency: 0.00097  dbSNP: rs139050119

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123436	SCV000166768	benign	not specified	2014-04-09	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.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV000408451	SCV000281820	uncertain significance	Severe early-childhood-onset retinal dystrophy	2016-01-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001102038	SCV001258686	uncertain significance	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV001502319	SCV001707148	likely benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001502319	SCV002496900	likely benign	not provided	2022-01-01	criteria provided, single submitter	clinical testing