Submissions for variant NM_022489.4(INF2):c.558C>T (p.Ser186=)

gnomAD frequency: 0.00158  dbSNP: rs150714865

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084614	SCV000771823	benign	Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E	2025-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000826929	SCV000968525	benign	not provided	2020-09-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001113741	SCV001271533	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.
Athena Diagnostics	RCV001289008	SCV001476496	benign	not specified	2020-03-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002343354	SCV002648806	likely benign	Inborn genetic diseases	2019-07-11	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.
Fulgent Genetics, Fulgent Genetics	RCV001084614	SCV002805724	likely benign	Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E	2021-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000826929	SCV004135279	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	INF2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000826929	SCV005294700	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003965383	SCV004776500	likely benign	INF2-related disorder	2019-04-11	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).