ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1547C>T (p.Pro516Leu)

gnomAD frequency: 0.00779  dbSNP: rs111589086
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591895 SCV000707659 benign not specified 2017-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000591895 SCV000714022 benign not specified 2017-04-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000861111 SCV001001334 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-01-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715308 SCV005294720 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003915734 SCV004731502 benign INF2-related disorder 2019-03-18 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.