ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.736A>C (p.Met246Leu)

gnomAD frequency: 0.00051  dbSNP: rs17222744
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595396 SCV000705983 uncertain significance not provided 2018-06-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001106831 SCV001263940 uncertain significance Dubin-Johnson syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Daryl Scott Lab, Baylor College of Medicine RCV001106831 SCV002567928 uncertain significance Dubin-Johnson syndrome 2022-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000595396 SCV003299036 likely benign not provided 2024-10-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000595396 SCV004184071 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing ABCC2: BP4
Mayo Clinic Laboratories, Mayo Clinic RCV000595396 SCV004225298 uncertain significance not provided 2022-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000595396 SCV005190973 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003915719 SCV004735767 likely benign ABCC2-related disorder 2022-11-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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