ClinVar Genomic variation as it relates to human health
NM_000368.4(TSC1):c.-234-1616_-234-235del1382
Germline
Classification
(2)
Uncertain significance
criteria provided, multiple submitters, no conflicts
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 | |||
TSC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4832 | 4883 | |
GFI1B | - | - |
GRCh38 GRCh37 |
94 | 140 | |
MIR548AW | - | - | - | GRCh38 | - | 18 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 5, 2019 | RCV001058317.10 | |
Uncertain significance (1) |
|
Dec 7, 2023 | RCV002445304.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024