ClinVar Genomic variation as it relates to human health
NC_000006.11:g.(?_10398650)_(10882026_?)dup
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 | |||
C6orf52 | - | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 40 |
GCM2 | - | - |
GRCh38 GRCh37 |
180 | 214 | |
GCNT2 | - | - |
GRCh38 GRCh38 GRCh37 |
195 | 236 | |
MAK | - | - |
GRCh38 GRCh37 |
612 | 645 | |
PAK1IP1 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 57 | |
TFAP2A | - | - |
GRCh38 GRCh37 |
133 | 257 | |
TMEM14B | - | - |
GRCh38 GRCh37 |
8 | 40 | |
TMEM14C | - | - |
GRCh38 GRCh38 GRCh37 |
11 | 46 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV001916845.3 | |
Uncertain significance (1) |
|
Aug 16, 2022 | RCV003107897.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023