Submissions for variant NM_001164688.2(RD3):c.584A>T (p.Asp195Val)

gnomAD frequency: 0.01101  dbSNP: rs143207434

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514169	SCV000609898	likely benign	not provided	2017-06-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000541074	SCV000641947	benign	Leber congenital amaurosis 12	2025-02-03	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000593302	SCV000707176	benign	not specified	2017-04-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000541074	SCV001258246	likely benign	Leber congenital amaurosis 12	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000593302	SCV002051042	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000514169	SCV005261685	likely benign	not provided		criteria provided, single submitter	not provided