Submissions for variant NM_000538.4(RFXAP):c.24G>A (p.Glu8=)

gnomAD frequency: 0.00213  dbSNP: rs540467033

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000545554	SCV000649558	benign	MHC class II deficiency	2024-01-25	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000545554	SCV000744798	benign	MHC class II deficiency	2017-06-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000545554	SCV001267442	benign	MHC class II deficiency	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV003884627	SCV004700284	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	RFXAP: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV003884627	SCV005236644	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000545554	SCV000733346	likely benign	MHC class II deficiency		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915590	SCV004733567	likely benign	RFXAP-related disorder	2019-12-12	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).