Submissions for variant NM_001271696.3(ABCB7):c.246+1G>A

gnomAD frequency: 0.01077  dbSNP: rs61323727

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000199874	SCV000250997	benign	not specified	2014-08-14	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	RCV000349973	SCV000482755	likely benign	Sideroblastic Anemia and Ataxia	2016-06-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000676905	SCV001150379	uncertain significance	not provided	2016-06-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000676905	SCV002407754	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676905	SCV000802720	uncertain significance	not provided	2016-02-23	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977541	SCV004795410	likely benign	ABCB7-related disorder	2020-01-23	no assertion criteria provided	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).