ClinVar Genomic variation as it relates to human health
NM_004646.4(NPHS1):c.33_34delinsTACACATCTG (p.Leu12fs)
Germline
Classification
(1)
Likely pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
KIRREL2 | - | - |
GRCh38 GRCh37 |
42 | 219 | |
NPHS1 | - | - |
GRCh38 GRCh37 |
1658 | 1839 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 31, 2022 | RCV002309413.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 24, 2022