Submissions for variant NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)

gnomAD frequency: 0.00491  dbSNP: rs61749417

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174470	SCV000225778	benign	not specified	2015-05-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000085445	SCV000321341	benign	not provided	2020-04-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22995991, 24265693, 25066811, 28044389, 25082885, 25097241, 25910913, 11527935, 22328824, 29925512, 32619608)
Illumina Laboratory Services, Illumina	RCV000353201	SCV000359460	likely benign	Stargardt Disease, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000260757	SCV000359461	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000318324	SCV000359462	likely benign	Cone-Rod Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000356519	SCV000359463	likely benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000085445	SCV001038385	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000986369	SCV001135357	benign	Severe early-childhood-onset retinal dystrophy	2019-05-28	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001075850	SCV001241489	uncertain significance	Retinal dystrophy	2019-08-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001098279	SCV001254633	likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000085445	SCV004009858	uncertain significance	not provided	2023-06-01	criteria provided, single submitter	clinical testing	ABCA4: PM3:Strong, PM2:Supporting, PP3, BS2
Retina International	RCV000085445	SCV000117582	not provided	not provided		no assertion provided	not provided