Submissions for variant NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)

dbSNP: rs752916287

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	RCV000171407	SCV000221604	likely pathogenic	not provided		criteria provided, single submitter	research
Eurofins Ntd Llc (ga)	RCV000171407	SCV000708058	uncertain significance	not provided	2017-04-20	criteria provided, single submitter	clinical testing
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	RCV000656338	SCV001438921	pathogenic	Progressive familial intrahepatic cholestasis type 3		criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001331237	SCV001523233	pathogenic	Cholestasis, intrahepatic, of pregnancy, 3	2019-10-25	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000656338	SCV003924320	likely pathogenic	Progressive familial intrahepatic cholestasis type 3	2023-05-08	criteria provided, single submitter	research
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH	RCV000656338	SCV004232476	pathogenic	Progressive familial intrahepatic cholestasis type 3	2021-01-01	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV001331237	SCV004804971	likely pathogenic	Cholestasis, intrahepatic, of pregnancy, 3	2024-03-17	criteria provided, single submitter	research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000656338	SCV000778301	pathogenic	Progressive familial intrahepatic cholestasis type 3	2018-03-14	no assertion criteria provided	clinical testing