Submissions for variant NM_000518.5(HBB):c.33C>A (p.Ala11=)

dbSNP: rs35799536

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000757356	SCV000601292	uncertain significance	not provided	2022-11-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757356	SCV000885549	uncertain significance	not provided	2021-06-02	criteria provided, single submitter	clinical testing
Invitae	RCV000757356	SCV001091071	likely benign	not provided	2024-01-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002455977	SCV002612678	likely benign	Inborn genetic diseases	2017-05-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mayo Clinic Laboratories, Mayo Clinic	RCV000757356	SCV004225357	uncertain significance	not provided	2023-01-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915406	SCV004734010	likely benign	HBB-related condition	2023-06-14	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).
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	RCV001374655	SCV001571583	likely benign	beta Thalassemia	2021-02-05	no assertion criteria provided	clinical testing