Submissions for variant NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln)

gnomAD frequency: 0.00272  dbSNP: rs147584361

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123441	SCV000166778	benign	not specified	2013-12-02	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	RCV000389257	SCV000482753	benign	X-linked sideroblastic anemia with ataxia	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000676903	SCV001029417	likely benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000389257	SCV001623018	benign	X-linked sideroblastic anemia with ataxia	2021-05-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935179	SCV004749844	benign	ABCB7-related condition	2020-12-15	criteria provided, single submitter	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).
Mayo Clinic Laboratories, Mayo Clinic	RCV000676903	SCV000802718	benign	not provided	2017-07-13	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000676903	SCV001797631	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000676903	SCV001966076	likely benign	not provided		no assertion criteria provided	clinical testing