ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.619C>A (p.Leu207Ile)

gnomAD frequency: 0.01704  dbSNP: rs74653691
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152864 SCV000202260 benign not specified 2014-01-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000354425 SCV000372739 likely benign Autosomal dominant vitreoretinochoroidopathy 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.
Illumina Laboratory Services, Illumina RCV000259515 SCV000372740 likely benign Vitelliform macular dystrophy 2 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000324183 SCV000372741 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000086142 SCV000883452 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Invitae RCV000086142 SCV001093526 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000086142 SCV001868222 benign not provided 2019-01-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23880862, 10798642, 20981092)
Fulgent Genetics, Fulgent Genetics RCV002498462 SCV002804706 likely benign Autosomal recessive bestrophinopathy; Vitelliform macular dystrophy 2; Autosomal dominant vitreoretinochoroidopathy; Retinitis pigmentosa 50 2021-10-14 criteria provided, single submitter clinical testing
Retina International RCV000086142 SCV000118286 not provided not provided no assertion provided not provided

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