ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.1644T>C (p.Asp548=)

gnomAD frequency: 0.12201  dbSNP: rs2161703
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000271730 SCV000341215 benign not specified 2016-04-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000381565 SCV000398342 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001516427 SCV001724703 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888686 SCV004705155 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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