Submissions for variant NM_000443.4(ABCB4):c.2211+16C>T

gnomAD frequency: 0.92183  dbSNP: rs31668

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250441	SCV000304287	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000250441	SCV000517485	benign	not specified	2015-12-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000250441	SCV000859315	benign	not specified	2018-01-24	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548908	SCV001768910	benign	Cholestasis, intrahepatic, of pregnancy, 3	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548909	SCV001768911	benign	Progressive familial intrahepatic cholestasis type 3	2021-07-14	criteria provided, single submitter	clinical testing
Invitae	RCV002057358	SCV002486327	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000250441	SCV001743288	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000250441	SCV001956763	benign	not specified		no assertion criteria provided	clinical testing