ClinVar Genomic variation as it relates to human health
NM_001166345.3(MDFIC):c.-158GGA[5]
Germline
Classification
(1)
Likely benign
no assertion criteria provided
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 | |||
LOC129999151 | - | - | - | GRCh38 | - | 12 |
MDFIC | - | - |
GRCh38 GRCh37 |
35 | 72 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
MDFIC-related disorder
|
Likely benign (1) |
|
Jun 13, 2024 | RCV004730609.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024