Submissions for variant NM_001360016.2(G6PD):c.1288-14TC[2]

dbSNP: rs199586268

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174033	SCV000225265	benign	not specified	2015-04-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000405814	SCV000482069	uncertain significance	G6PD deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000646701	SCV000768480	benign	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000174033	SCV001157384	likely benign	not specified	2018-08-27	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV002260999	SCV002541778	uncertain significance	not provided	2021-09-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917610	SCV004733127	benign	G6PD-related disorder	2019-05-23	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).