ClinVar Genomic variation as it relates to human health
NM_003571.4(BFSP2):c.892-3C>G
Germline
Classification
(1)
Uncertain significance
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 | |||
BFSP2 | - | - |
GRCh38 GRCh37 |
47 | 146 | |
BFSP2-AS1 | - | - | - | GRCh38 | - | 90 |
LOC129937591 | - | - | - | GRCh38 | - | 18 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
BFSP2-related disorder
|
Uncertain significance (1) |
|
Dec 29, 2022 | RCV003414582.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024