Submissions for variant NM_004656.4(BAP1):c.271T>C (p.Cys91Arg)

dbSNP: rs1705222655

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Undiagnosed Diseases Network, NIH	RCV001269477	SCV001449490	uncertain significance	BAP1-associated neurodevelopmental disorder	2020-06-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002480883	SCV002777666	uncertain significance	BAP1-related tumor predisposition syndrome; Kury-Isidor syndrome	2021-10-04	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV001839038	SCV003921047	pathogenic	Kury-Isidor syndrome	2023-02-20	criteria provided, single submitter	clinical testing	This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2_VSTR, PM5_STR, PS4_MOD, PM2_SUP, PP3
Institute of Human Genetics, University Hospital Muenster	RCV003985491	SCV004801702	pathogenic	See cases	2023-12-13	criteria provided, single submitter	clinical testing	ACMG categories: PS4,PM1,PM2,PM5,PP3,BP1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	RCV001797164	SCV001738374	pathogenic	Neurodevelopmental disorder	2021-06-22	no assertion criteria provided	research
GenomeConnect, ClinGen	RCV001836979	SCV002028358	not provided	BAP1-related tumor predisposition syndrome		no assertion provided	phenotyping only	Variant interpreted as Uncertain significance and reported on 02-06-2020 by Lab or GTR ID 1006. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
OMIM	RCV001839038	SCV002098943	pathogenic	Kury-Isidor syndrome	2022-02-24	no assertion criteria provided	literature only