ClinVar Genomic variation as it relates to human health
NC_000014.8:g.(?_21671278)_(22005055_?)dup
Germline
Classification
(1)
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 | |||
CHD8 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1242 | 1342 | |
SUPT16H | No evidence available | No evidence available |
GRCh38 GRCh37 |
81 | 141 | |
HNRNPC | - | - |
GRCh38 GRCh37 |
14 | 64 | |
METTL3 | - | - |
GRCh38 GRCh37 |
16 | 54 | |
RAB2B | - | - |
GRCh38 GRCh37 |
8 | 49 | |
RPGRIP1 | - | - |
GRCh38 GRCh37 |
1022 | 1075 | |
SALL2 | - | - |
GRCh38 GRCh37 |
117 | 153 | |
TOX4 | - | - |
GRCh38 GRCh37 |
37 | 79 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 19, 2022 | RCV003109694.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023