ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.1070C>T (p.Ala357Val)

gnomAD frequency: 0.00039  dbSNP: rs17854138
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000269600 SCV000372763 likely benign Autosomal dominant vitreoretinochoroidopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000333972 SCV000372764 likely benign Vitelliform macular dystrophy 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388625 SCV000372765 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000300553 SCV000483281 likely benign Iron Overload 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000885201 SCV001028631 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001106455 SCV001263522 uncertain significance Retinitis pigmentosa 2018-01-13 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.
GeneDx RCV000885201 SCV001795402 likely benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31180159, 29641573)
Dept Of Ophthalmology, Nagoya University RCV003888716 SCV004707565 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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