Submissions for variant NM_000433.4(NCF2):c.1179-4C>G

gnomAD frequency: 0.00066  dbSNP: rs55795842

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000642281	SCV000763950	benign	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000642281	SCV001257652	benign	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001675949	SCV001892312	benign	not provided	2020-03-16	criteria provided, single submitter	clinical testing
Genetics and Molecular Pathology, SA Pathology	RCV000642281	SCV002556626	uncertain significance	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	2019-08-13	criteria provided, single submitter	clinical testing	The NCF2 c.1179-4C>G variant is classified as VUS (BS1)