Submissions for variant NM_000443.4(ABCB4):c.1314G>A (p.Thr438=)

gnomAD frequency: 0.00490  dbSNP: rs45624933

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000362178	SCV000331493	benign	not specified	2015-10-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000362178	SCV000518647	likely benign	not specified	2018-02-01	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.
Invitae	RCV000971217	SCV001118845	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001161565	SCV001323453	benign	Progressive familial intrahepatic cholestasis type 3	2017-05-16	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001161566	SCV001323454	benign	Cholestasis, intrahepatic, of pregnancy, 3	2017-05-16	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV000971217	SCV004162423	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	ABCB4: BP4, BP7, BS2