Submissions for variant NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)

gnomAD frequency: 0.00049  dbSNP: rs62645749

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000787825	SCV000352787	likely benign	Retinitis pigmentosa	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000382919	SCV000352788	likely benign	Leber congenital amaurosis 8	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000288080	SCV000352789	likely benign	Pigmented paravenous retinochoroidal atrophy	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.
Invitae	RCV001080600	SCV001091958	likely benign	Retinitis pigmentosa 12; Leber congenital amaurosis 8	2024-01-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000986485	SCV001135497	uncertain significance	Leber congenital amaurosis 1	2019-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000382919	SCV001716387	likely benign	Leber congenital amaurosis 8	2021-05-18	criteria provided, single submitter	clinical testing
Retina International	RCV000086360	SCV000118506	not provided	not provided		no assertion provided	not provided
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	RCV000787825	SCV000926838	likely pathogenic	Retinitis pigmentosa	2018-04-01	flagged submission	research
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001251962	SCV001427708	likely benign	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001271893	SCV001453387	likely benign	Leber congenital amaurosis	2020-04-24	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000086360	SCV001923032	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000086360	SCV001970996	uncertain significance	not provided		no assertion criteria provided	clinical testing