Submissions for variant NM_003742.4(ABCB11):c.127G>A (p.Val43Ile)

gnomAD frequency: 0.00197  dbSNP: rs183406496

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178197	SCV000230214	uncertain significance	not provided	2018-07-26	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000178197	SCV000280962	uncertain significance	not provided	2015-06-04	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
Invitae	RCV000178197	SCV001022063	likely benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001130408	SCV001289984	uncertain significance	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). 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.
Mayo Clinic Laboratories, Mayo Clinic	RCV000178197	SCV004224999	uncertain significance	not provided	2022-12-28	criteria provided, single submitter	clinical testing	BP4
CeGaT Center for Human Genetics Tuebingen	RCV000178197	SCV004700298	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ABCB11: BP4
PreventionGenetics, part of Exact Sciences	RCV003937611	SCV004754559	likely benign	ABCB11-related disorder	2022-03-23	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).