Submissions for variant NM_004183.4(BEST1):c.109T>C (p.Leu37=)

gnomAD frequency: 0.48331  dbSNP: rs1800007

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000152861	SCV000202257	benign	not specified	2017-02-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000152861	SCV000310009	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000283689	SCV000372706	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.
Illumina Laboratory Services, Illumina	RCV000341149	SCV000372707	benign	Autosomal dominant vitreoretinochoroidopathy	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.
Illumina Laboratory Services, Illumina	RCV000398665	SCV000372708	benign	Vitelliform macular dystrophy 2	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000086084	SCV000602633	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV000086084	SCV001724325	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000341149	SCV001775448	benign	Autosomal dominant vitreoretinochoroidopathy	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000398665	SCV001775449	benign	Vitelliform macular dystrophy 2	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554220	SCV001775450	benign	Retinitis pigmentosa 50	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554221	SCV001775451	benign	Autosomal recessive bestrophinopathy	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000086084	SCV001897461	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888490	SCV004706977	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Retina International	RCV000086084	SCV000118228	not provided	not provided		no assertion provided	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000152861	SCV001742686	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000152861	SCV001959236	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000152861	SCV001967508	benign	not specified		no assertion criteria provided	clinical testing