Submissions for variant NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn)

dbSNP: rs1057517933

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000412858	SCV000491102	pathogenic	not provided	2024-10-30	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35982159, 33057194, 36403551, 34490615, 29777588)
Diagnostic Laboratory, Strasbourg University Hospital	RCV001260795	SCV001437888	likely pathogenic	Intellectual disability	2020-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001266394	SCV001444568	likely pathogenic	Inborn genetic diseases	2019-09-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000412858	SCV002586004	likely pathogenic	not provided	2022-09-01	criteria provided, single submitter	clinical testing	TBL1XR1: PM2, PM5, PP2, PP3, PS4:Supporting
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV003233629	SCV003932145	pathogenic	Intellectual disability, autosomal dominant 41	2023-02-23	criteria provided, single submitter	clinical testing	PS4_Moderate, PM2, PM5_Supporting, PM6_Strong, PP2, PP3
School of Pediatrics, Henan University of Chinese Medicine, Henan University Of Chinese Medicine	RCV003224873	SCV003920730	pathogenic	Pierpont syndrome		no assertion criteria provided	clinical testing