ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys)

gnomAD frequency: 0.00107  dbSNP: rs111482608
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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) RCV000317163 SCV000343417 likely benign not specified 2016-06-23 criteria provided, single submitter clinical testing
Invitae RCV000904492 SCV001049012 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001130292 SCV001289866 benign Progressive familial intrahepatic cholestasis type 2 2017-04-28 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
PreventionGenetics, part of Exact Sciences RCV003910022 SCV004722896 likely benign ABCB11-related disorder 2022-10-06 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. RCV001130292 SCV002077901 likely benign Progressive familial intrahepatic cholestasis type 2 2021-02-26 no assertion criteria provided clinical testing

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