Submissions for variant NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr)

gnomAD frequency: 0.00185  dbSNP: rs76258939

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176523	SCV000228194	benign	not specified	2015-02-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000372022	SCV000359383	likely benign	Stargardt Disease, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000282704	SCV000359384	likely benign	Cone-Rod Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000319010	SCV000359385	likely benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000387472	SCV000359386	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000176523	SCV000511891	benign	not specified	2016-06-08	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.
Invitae	RCV000132590	SCV001095479	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001101854	SCV001258495	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000132590	SCV004562869	benign	not provided	2023-11-11	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888540	SCV004707545	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132590	SCV000172534	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.