Submissions for variant NM_003742.4(ABCB11):c.2179-17C>A

gnomAD frequency: 0.45482  dbSNP: rs853772

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248104	SCV000309808	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000248104	SCV000517480	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.
Genome-Nilou Lab	RCV001542888	SCV001761286	benign	Benign recurrent intrahepatic cholestasis type 2	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001542889	SCV001761287	benign	Progressive familial intrahepatic cholestasis type 2	2021-07-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002058143	SCV002419375	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002058143	SCV005244728	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000248104	SCV001744840	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000248104	SCV001957853	benign	not specified		no assertion criteria provided	clinical testing