Submissions for variant NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)

dbSNP: rs138475920

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV000408550	SCV000281899	uncertain significance	Severe early-childhood-onset retinal dystrophy	2016-01-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000313966	SCV000345555	uncertain significance	not provided	2016-09-01	criteria provided, single submitter	clinical testing
Invitae	RCV000313966	SCV001074570	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001074482	SCV001240068	uncertain significance	Retinal dystrophy	2017-09-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001101754	SCV001258391	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.
GeneDx	RCV000313966	SCV001847824	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000313966	SCV002496898	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ABCA4: BP4, BP7