Submissions for variant NM_004183.4(BEST1):c.1474G>A (p.Val492Ile)

gnomAD frequency: 0.00867  dbSNP: rs111326315

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173796	SCV000224948	benign	not specified	2014-05-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000332568	SCV000372781	likely benign	Autosomal dominant vitreoretinochoroidopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000368515	SCV000372782	likely benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000263285	SCV000372783	likely benign	Vitelliform macular dystrophy 2	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000311168	SCV000483284	likely benign	Iron Overload	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000970229	SCV001117798	benign	not provided	2025-01-23	criteria provided, single submitter	clinical testing
Mendelics	RCV000263285	SCV001138335	benign	Vitelliform macular dystrophy 2	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001105411	SCV001262372	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). 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.
GeneDx	RCV000970229	SCV001864716	benign	not provided	2019-05-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21273940)
Breakthrough Genomics, Breakthrough Genomics	RCV000970229	SCV005224412	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000173796	SCV001921564	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000970229	SCV001969776	likely benign	not provided		no assertion criteria provided	clinical testing