Submissions for variant NM_000350.3(ABCA4):c.1155C>T (p.Ile385=)

gnomAD frequency: 0.00022  dbSNP: rs376624031

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000326953	SCV000359531	uncertain significance	Stargardt Disease, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000383912	SCV000359532	uncertain significance	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000292103	SCV000359533	uncertain significance	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000339971	SCV000359534	uncertain significance	Cone-Rod Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000907632	SCV000511882	likely benign	not provided	2018-09-05	criteria provided, single submitter	clinical testing
Invitae	RCV000907632	SCV001052348	likely benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001075141	SCV001240752	uncertain significance	Retinal dystrophy	2018-09-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930245	SCV004746915	likely benign	ABCA4-related condition	2020-01-08	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).