ClinVar Miner

Submissions for variant NM_172364.5(CACNA2D4):c.2517G>A (p.Ala839=)

gnomAD frequency: 0.14052  dbSNP: rs33972365
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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 RCV000253311 SCV000316455 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324502 SCV000377241 benign Retinal cone dystrophy 4 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 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 RCV000087003 SCV001732467 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV000087003 SCV000119256 not provided not provided no assertion provided not provided

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