ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp)

dbSNP: rs13306575
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000002336 SCV000351758 likely benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000002336 SCV000641905 benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2024-02-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000597800 SCV000701094 benign not specified 2016-11-21 criteria provided, single submitter clinical testing
GeneDx RCV001650826 SCV001864767 benign not provided 2019-01-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31180159, 10498624, 29560547, 29454792, 12887891, 23821607, 25795782, 24123366, 10598813, 24163247, 22995991)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000597800 SCV002050889 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000002336 SCV002802627 likely benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2022-05-13 criteria provided, single submitter clinical testing
OMIM RCV000002336 SCV000022494 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 1999-10-01 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000597800 SCV001741911 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000597800 SCV001927304 benign not specified no assertion criteria provided clinical testing

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