Submissions for variant NM_004183.4(BEST1):c.1608T>C (p.Thr536=)

gnomAD frequency: 0.41922  dbSNP: rs1800009

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000152856	SCV000202252	benign	not specified	2014-04-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000152856	SCV000310012	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000344805	SCV000372793	benign	Vitelliform macular dystrophy 2	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000398299	SCV000372794	benign	Autosomal dominant vitreoretinochoroidopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000314627	SCV000372795	benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000326254	SCV000483287	benign	Iron Overload	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000086090	SCV000602632	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001108732	SCV001266001	benign	Retinitis pigmentosa	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000086090	SCV001724327	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000086090	SCV001887012	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888492	SCV004707574	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Retina International	RCV000086090	SCV000118234	not provided	not provided		no assertion provided	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000152856	SCV001740551	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000152856	SCV001954244	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000152856	SCV001968837	benign	not specified		no assertion criteria provided	clinical testing