Submissions for variant NM_000350.3(ABCA4):c.1356+5_1356+6insC

dbSNP: rs1553193877

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173676	SCV000224815	benign	not specified	2015-05-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000260678	SCV000359507	likely benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000318246	SCV000359508	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000375238	SCV000359509	likely benign	Cone-Rod Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000292599	SCV000359510	likely benign	Stargardt Disease, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000085391	SCV001038386	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000085391	SCV001943933	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000085391	SCV004009860	benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	ABCA4: BP4, BS1, BS2
Retina International	RCV000085391	SCV000117528	not provided	not provided		no assertion provided	not provided