Submissions for variant NM_000350.3(ABCA4):c.1699G>A (p.Val567Met)

gnomAD frequency: 0.00004  dbSNP: rs74516571

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000132586	SCV000202092	uncertain significance	not provided	2014-04-25	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001075527	SCV001241153	uncertain significance	Retinal dystrophy	2018-12-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001100048	SCV001256549	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	RCV000132586	SCV001676074	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV001075527	SCV004705910	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132586	SCV000172530	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.