ClinVar Genomic variation as it relates to human health
NM_000548.5(TSC2):c.4570-5CA[3]
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 |
10627 | 10802 |
Conditions - Germline
There are no conditions for this variant because no interpretation for the single variant has been submitted to ClinVar yet.
Citations for germline classification of this variant
HelpConditions - Somatic
There are no conditions for this variant because no interpretation for the single variant has been submitted to ClinVar yet.
Citations for somatic classification of this variant
HelpText-mined citations for rs2090619495 ...
HelpRecord last updated Jan 26, 2024