ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.1446C>G (p.Thr482=)

gnomAD frequency: 0.01182  dbSNP: rs113646094
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000244206 SCV000303968 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000335035 SCV000359783 benign Dubin-Johnson syndrome 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.
Fulgent Genetics, Fulgent Genetics RCV000335035 SCV002805718 likely benign Dubin-Johnson syndrome 2021-11-02 criteria provided, single submitter clinical testing
Invitae RCV002519878 SCV003242416 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002519878 SCV004010006 benign not provided 2023-05-01 criteria provided, single submitter clinical testing ABCC2: BP4, BS1, BS2

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