ClinVar Genomic variation as it relates to human health
NC_000014.8:g.(?_60976117)_(61447691_?)del
Germline
Classification
(2)
Uncertain significance
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 | |||
SIX1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
176 | 222 | |
SIX4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
37 | 60 | |
SIX6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 142 | |
MNAT1 | - | - |
GRCh38 GRCh37 |
20 | 43 | |
TRMT5 | - | - |
GRCh38 GRCh37 |
219 | 244 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 22, 2022 | RCV003109449.2 | |
no classifications from unflagged records (1) |
|
- | RCV003116467.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023