ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.1474G>A (p.Val492Ile)

gnomAD frequency: 0.00867  dbSNP: rs111326315
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173796 SCV000224948 benign not specified 2014-05-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332568 SCV000372781 likely benign Autosomal dominant vitreoretinochoroidopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368515 SCV000372782 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263285 SCV000372783 likely benign Vitelliform macular dystrophy 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311168 SCV000483284 likely benign Iron Overload 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000970229 SCV001117798 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Mendelics RCV000263285 SCV001138335 benign Vitelliform macular dystrophy 2 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001105411 SCV001262372 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.
GeneDx RCV000970229 SCV001864716 benign not provided 2019-05-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21273940)
Breakthrough Genomics, Breakthrough Genomics RCV000970229 SCV005224412 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000173796 SCV001921564 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000970229 SCV001969776 likely benign not provided no assertion criteria provided clinical testing

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