Submissions for variant NM_001025603.2(RFX5):c.233+4G>C

gnomAD frequency: 0.00173  dbSNP: rs2233846

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000880746	SCV001023865	benign	MHC class II deficiency	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000880746	SCV001254109	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.
Fulgent Genetics, Fulgent Genetics	RCV000880746	SCV002808678	likely benign	MHC class II deficiency	2022-05-20	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000880746	SCV003920398	uncertain significance	MHC class II deficiency	2022-09-01	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 1.1% (183/15280) (https://gnomad.broadinstitute.org/variant/1-151345102-C-G?dataset=gnomad_r3). This variant is present in ClinVar, with multiple labs classifying this variant as Benign (Variation ID:709357). This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing.
CeGaT Center for Human Genetics Tuebingen	RCV003411875	SCV004124625	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	RFX5: BP4, BS2