ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.1167C>A (p.His389Gln)

gnomAD frequency: 0.03605  dbSNP: rs17849502
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253292 SCV000304236 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000539056 SCV000351759 benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2018-03-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000539056 SCV000641904 benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2025-02-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000253292 SCV000708811 benign not specified 2017-06-01 criteria provided, single submitter clinical testing
GeneDx RCV001668429 SCV001885807 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26502338, 22203994, 23821607, 25795782, 24163247)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000253292 SCV002051319 likely benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668429 SCV005260427 likely benign not provided criteria provided, single submitter not provided

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