Submissions for variant NM_024589.3(ROGDI):c.713G>A (p.Arg238His)

gnomAD frequency: 0.00548  dbSNP: rs138409264

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000389190	SCV000397134	likely benign	Amelocerebrohypohidrotic syndrome	2018-01-13	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000427626	SCV000510816	likely benign	not provided	2016-10-12	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000389190	SCV000561646	benign	Amelocerebrohypohidrotic syndrome	2025-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000427626	SCV000843501	benign	not provided	2017-09-27	criteria provided, single submitter	clinical testing
Mendelics	RCV000389190	SCV001139927	likely benign	Amelocerebrohypohidrotic syndrome	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000427626	SCV002545745	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	ENSG00000285952: BS2; ROGDI: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000427626	SCV005217392	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000389190	SCV000733502	likely benign	Amelocerebrohypohidrotic syndrome		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702424	SCV001932231	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922346	SCV004743748	benign	ROGDI-related disorder	2023-12-20	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).