ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro)

gnomAD frequency: 0.00073  dbSNP: rs141071579
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000318463 SCV000372784 likely benign Vitelliform macular dystrophy 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000373030 SCV000372785 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000278563 SCV000372786 likely benign Autosomal dominant vitreoretinochoroidopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000370478 SCV000483285 likely benign Iron Overload 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000994642 SCV001148301 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing BEST1: BP4
Invitae RCV000994642 SCV001197283 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001106556 SCV001263629 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
PreventionGenetics, part of Exact Sciences RCV004537722 SCV004725706 likely benign BEST1-related disorder 2022-05-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000994642 SCV001978879 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000994642 SCV001980050 likely benign not provided no assertion criteria provided clinical testing

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