Submissions for variant NM_000518.5(HBB):c.315+16G>C

gnomAD frequency: 0.82893  dbSNP: rs10768683

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248874	SCV000304630	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001513848	SCV000603886	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
Mendelics	RCV000736020	SCV001138215	likely benign	beta Thalassemia	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV001513848	SCV001721537	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000736020	SCV001749167	benign	beta Thalassemia	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001513848	SCV001905443	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
College of Science, Al Muthanna University, Al Muthanna University	RCV000736020	SCV000864063	benign	beta Thalassemia	2018-01-01	no assertion criteria provided	research
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics	RCV000736020	SCV001244634	benign	beta Thalassemia	2019-11-25	no assertion criteria provided	curation
Natera, Inc.	RCV000736020	SCV001453776	benign	beta Thalassemia	2020-09-16	no assertion criteria provided	clinical testing