ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.3411+10G>A

gnomAD frequency: 0.00003  dbSNP: rs188996270
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731990 SCV000859864 uncertain significance not provided 2018-02-22 criteria provided, single submitter clinical testing
Invitae RCV000731990 SCV001058325 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001135195 SCV001294969 likely benign Progressive familial intrahepatic cholestasis type 2 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
PreventionGenetics, part of Exact Sciences RCV003965533 SCV004778405 likely benign ABCB11-related condition 2021-11-04 criteria provided, single submitter 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).
Natera, Inc. RCV001135195 SCV001458320 uncertain significance Progressive familial intrahepatic cholestasis type 2 2019-10-28 no assertion criteria provided clinical testing

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