ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.4527C>T (p.Asn1509=)

gnomAD frequency: 0.00269  dbSNP: rs8187709
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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) RCV000177592 SCV000229490 benign not specified 2015-05-14 criteria provided, single submitter clinical testing
Invitae RCV000974621 SCV001122454 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001107120 SCV001264251 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 RCV000974621 SCV004127207 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing ABCC2: BP4, BP7

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