Submissions for variant NM_000518.5(HBB):c.*96T>C

gnomAD frequency: 0.00283  dbSNP: rs34029390

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	RCV000029999	SCV000052654	likely benign	beta Thalassemia	2011-08-18	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000755281	SCV000603888	benign	not provided	2023-11-24	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000755281	SCV000889355	likely benign	not provided	2022-06-10	criteria provided, single submitter	clinical testing
Invitae	RCV000755281	SCV001001217	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000029999	SCV001138213	benign	beta Thalassemia	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000029999	SCV001262805	uncertain significance	beta Thalassemia	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000755281	SCV002504157	likely benign	not provided	2019-04-04	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences	RCV003964817	SCV004784383	likely benign	HBB-related condition	2020-02-28	criteria provided, single submitter	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).