Submissions for variant NM_004183.4(BEST1):c.1410G>A (p.Thr470=)

gnomAD frequency: 0.22214  dbSNP: rs149698

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173795	SCV000224947	benign	not specified	2014-06-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000173795	SCV000310010	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000301873	SCV000372775	benign	Vitelliform macular dystrophy 2	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000365872	SCV000372776	benign	Autosomal dominant vitreoretinochoroidopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000392906	SCV000372777	benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000401921	SCV000483283	benign	Iron Overload	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001103498	SCV001260263	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	RCV001517785	SCV001726357	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000365872	SCV001774999	benign	Autosomal dominant vitreoretinochoroidopathy	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000301873	SCV001775000	benign	Vitelliform macular dystrophy 2	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001553906	SCV001775001	benign	Retinitis pigmentosa 50	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001553907	SCV001775002	benign	Autosomal recessive bestrophinopathy	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001517785	SCV001913864	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888617	SCV004707569	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000173795	SCV001743660	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000173795	SCV001957981	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000173795	SCV001969201	benign	not specified		no assertion criteria provided	clinical testing