Submissions for variant NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)

dbSNP: rs797045283

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194737	SCV000246538	pathogenic	Coffin-Siris syndrome 1	2014-10-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000523275	SCV000617284	pathogenic	not provided	2022-08-16	criteria provided, single submitter	clinical testing	Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 260 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23929686, 24090879, 24866042, 27474218, 30755392)
Center for Personalized Medicine, Children's Hospital Los Angeles	RCV000735324	SCV000854478	pathogenic	Torticollis; Global developmental delay; Short stature; Dysphagia; Premature birth; Generalized hypotonia; Joint hypermobility; Relative macrocephaly; Capillary hemangioma; Congenital talipes calcaneovalgus		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000194737	SCV002054296	pathogenic	Coffin-Siris syndrome 1	2021-07-15	criteria provided, single submitter	clinical testing
Center for Personalized Medicine, Children's Hospital Los Angeles	RCV003156084	SCV003845248	pathogenic	See cases	2022-12-21	criteria provided, single submitter	clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000194737	SCV001132874	pathogenic	Coffin-Siris syndrome 1	2019-01-29	no assertion criteria provided	clinical testing