ClinVar Genomic variation as it relates to human health
NM_133259.4(LRPPRC):c.1649+3A>G
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(1)
criteria provided, conflicting classifications
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 | |||
LOC129388857 | - | - | - | GRCh38 | - | 34 |
LRPPRC | - | - |
GRCh38 GRCh37 |
1949 | 1999 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 5, 2019 | RCV003131509.3 | |
Likely benign (1) |
|
Jan 4, 2022 | RCV003906656.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024