ClinVar Genomic variation as it relates to human health
NM_014680.5(BLTP2):c.6205G>A (p.Val2069Ile)
Germline
Classification
(1)
Benign
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 | |||
BLTP2 | - | - |
GRCh38 GRCh37 |
92 | 112 | |
SPAG5-AS1 | - | - | - | GRCh38 | - | 39 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Apr 1, 2022 | RCV003428198.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024