ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.219C>A (p.Ile73=)

gnomAD frequency: 0.10271  dbSNP: rs1109748
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152862 SCV000202258 benign not specified 2014-04-15 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000152862 SCV000310013 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000320491 SCV000372721 benign Retinitis pigmentosa 2018-01-12 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 RCV000377486 SCV000372722 benign Autosomal dominant vitreoretinochoroidopathy 2018-01-12 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 RCV000266568 SCV000372723 benign Vitelliform macular dystrophy 2 2018-01-12 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 RCV000086102 SCV000602634 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Mendelics RCV000266568 SCV001138334 benign Vitelliform macular dystrophy 2 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000086102 SCV001718211 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000086102 SCV001945184 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32207364)
Fulgent Genetics, Fulgent Genetics RCV002490749 SCV002794739 benign Autosomal recessive bestrophinopathy; Vitelliform macular dystrophy 2; Autosomal dominant vitreoretinochoroidopathy; Retinitis pigmentosa 50 2022-01-27 criteria provided, single submitter clinical testing
Retina International RCV000086102 SCV000118246 not provided not provided no assertion provided not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000152862 SCV001739630 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000152862 SCV001951122 benign not specified no assertion criteria provided clinical testing

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