ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.3396T>C (p.Ile1132=)

gnomAD frequency: 0.00324  dbSNP: rs17216345
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000951112 SCV001097477 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001107035 SCV001264164 benign 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV000951112 SCV004127203 benign not provided 2023-07-01 criteria provided, single submitter clinical testing ABCC2: BP4, BP7, BS1, BS2

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