ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2848C>T (p.Arg950Trp)

gnomAD frequency: 0.00098  dbSNP: rs199873407
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000380718 SCV000385291 benign Focal segmental glomerulosclerosis 5 2018-01-12 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 RCV000559603 SCV000652096 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-01-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001672493 SCV001472796 likely benign not provided 2020-04-03 criteria provided, single submitter clinical testing
GeneDx RCV001672493 SCV001890880 benign not provided 2019-12-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294265 SCV002587496 likely benign Kidney disorder 2019-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436161 SCV002748149 likely benign Inborn genetic diseases 2020-03-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001672493 SCV004135292 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing INF2: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003957625 SCV004774378 benign INF2-related disorder 2019-08-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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