Submissions for variant NM_000518.5(HBB):c.110del (p.Pro37fs)

dbSNP: rs267607297

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000586096	SCV000697057	pathogenic	beta Thalassemia	2016-10-21	criteria provided, single submitter	clinical testing	Variant summary: The HBB c.110delC (p.Pro37Leufs) variant results in a premature termination codon, predicted to cause a truncated or absent HBB protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant of interest was not found in controls (ExAC, 1000 Gs or ESP) and has been reported in multiple affected individuals predominantly as a compound heterozygote. In addition, multiple reputable databases cite the variant as "pathogenic." Therefore, the variant of interest has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759790	SCV000889359	pathogenic	not provided	2017-12-09	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000759790	SCV002023454	likely pathogenic	not provided	2021-04-10	criteria provided, single submitter	clinical testing
OMIM	RCV000016680	SCV000036950	pathogenic	Beta zero thalassemia	1989-05-01	no assertion criteria provided	literature only
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics	RCV000586096	SCV001244469	pathogenic	beta Thalassemia	2019-11-25	no assertion criteria provided	curation
Natera, Inc.	RCV000586096	SCV001453783	pathogenic	beta Thalassemia	2020-09-16	no assertion criteria provided	clinical testing