ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)

gnomAD frequency: 0.00047  dbSNP: rs147192139
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000350824 SCV000372796 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000408253 SCV000372797 likely benign Vitelliform macular dystrophy 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311148 SCV000372798 likely benign Autosomal dominant vitreoretinochoroidopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000362495 SCV000483288 likely benign Iron Overload 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000086092 SCV000702279 uncertain significance not provided 2016-11-11 criteria provided, single submitter clinical testing
Invitae RCV000086092 SCV001213218 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001108733 SCV001266004 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.
CeGaT Center for Human Genetics Tuebingen RCV000086092 SCV001500464 uncertain significance not provided 2020-09-01 criteria provided, single submitter clinical testing
Retina International RCV000086092 SCV000118236 not provided not provided no assertion provided not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000086092 SCV001740835 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000086092 SCV001969150 likely benign not provided no assertion criteria provided clinical testing

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