Submissions for variant NM_001271696.3(ABCB7):c.945-7C>T

gnomAD frequency: 0.00961  dbSNP: rs5937938

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123442	SCV000166779	benign	not specified	2013-10-29	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina	RCV000332395	SCV000482752	likely benign	Sideroblastic Anemia and Ataxia	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000676902	SCV001025160	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001285826	SCV001472321	benign	X-linked sideroblastic anemia with ataxia	2020-12-05	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676902	SCV000802717	benign	not provided	2016-02-25	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905184	SCV004729359	benign	ABCB7-related disorder	2019-09-10	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).