ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_2079753)_(2100460_?)del
Germline
Classification
(1)
Pathogenic
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 | |||
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10719 | 10914 | |
NHERF2 | - | - |
GRCh38 GRCh37 |
51 | 106 | |
NTHL1 | - | - |
GRCh38 GRCh37 |
1520 | 1641 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 28, 2022 | RCV003111445.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024