Submissions for variant NM_000518.5(HBB):c.93-23T>C

gnomAD frequency: 0.00593  dbSNP: rs111851677

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030010	SCV000052665	uncertain	beta Thalassemia	2011-08-18	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000860961	SCV000603926	benign	not provided	2024-11-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860961	SCV001001151	benign	not provided	2024-11-04	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000860961	SCV001134241	likely benign	not provided	2020-12-09	criteria provided, single submitter	clinical testing
Mendelics	RCV003323278	SCV001138220	benign	Beta-thalassemia HBB/LCRB	2023-08-22	criteria provided, single submitter	clinical testing
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics	RCV000030010	SCV001244517	benign	beta Thalassemia	2019-11-25	no assertion criteria provided	curation
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	RCV000030010	SCV002754551	likely benign	beta Thalassemia	2022-10-14	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004532420	SCV004721239	likely benign	HBB-related disorder	2019-02-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).