ClinVar Genomic variation as it relates to human health
NM_213606.4(SLC16A12):c.200+9del
Germline
Classification
(1)
Likely 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 | |||
SLC16A12 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
66 | 100 | |
SLC16A12-AS1 | - | - | - | GRCh38 | - | 12 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Apr 20, 2022 | RCV002947677.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024