ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.159+14C>T

gnomAD frequency: 0.00255  dbSNP: rs199591689
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243766 SCV000307629 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000366543 SCV000398376 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001916 SCV001159670 benign Retinitis pigmentosa 45 2023-10-09 criteria provided, single submitter clinical testing
Invitae RCV001518765 SCV001727522 benign not provided 2024-01-26 criteria provided, single submitter clinical testing

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