Submissions for variant NM_021939.4(FKBP10):c.1256+17dup

dbSNP: rs55720039

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000361469	SCV000402787	likely benign	Osteogenesis Imperfecta, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001675816	SCV001893566	benign	not provided	2020-10-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001675816	SCV002058060	benign	not provided	2023-10-06	criteria provided, single submitter	clinical testing
Invitae	RCV001675816	SCV002455352	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278490	SCV002564829	benign	Osteogenesis imperfecta	2022-03-02	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002495018	SCV002798030	benign	Bruck syndrome 1; Osteogenesis imperfecta type 11	2021-10-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000615629	SCV000729011	likely benign	not specified	2017-11-28	flagged submission	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.