Submissions for variant NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)

gnomAD frequency: 0.00910  dbSNP: rs58238559

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224371	SCV000280974	benign	not provided	2016-01-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000244656	SCV000304294	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000244656	SCV000331491	likely benign	not specified	2016-06-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000224371	SCV000520645	benign	not provided	2018-04-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23022423, 26474921, 28776642, 25888430, 26153658, 20163776, 23533021, 25333069, 22331132, 11313316, 27884173, 28176361, 28924228, 29761167, 31335238, 31538484)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000244656	SCV000538211	likely benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 110/13006=8.45%; Frequency in ESP (EA): 103/8600=1.19%
Illumina Laboratory Services, Illumina	RCV001158467	SCV001320109	likely benign	Progressive familial intrahepatic cholestasis type 3	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001165181	SCV001327354	likely benign	Cholestasis, intrahepatic, of pregnancy, 3	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab	RCV001158467	SCV001623468	benign	Progressive familial intrahepatic cholestasis type 3	2021-05-18	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000244656	SCV002103492	likely benign	not specified	2022-02-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000224371	SCV002401089	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224371	SCV002545522	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	ABCB4: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000224371	SCV005220953	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000014690	SCV000034945	pathogenic	Low phospholipid associated cholelithiasis	2001-05-01	no assertion criteria provided	literature only