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 |
1234 | 1334 | |
SUPT16H | No evidence available | No evidence available |
GRCh38 GRCh37 |
74 | 134 | |
HNRNPC | - | - |
GRCh38 GRCh37 |
13 | 63 | |
METTL3 | - | - |
GRCh38 GRCh37 |
13 | 51 | |
RAB2B | - | - |
GRCh38 GRCh37 |
7 | 48 | |
RPGRIP1 | - | - |
GRCh38 GRCh37 |
1018 | 1071 | |
SALL2 | - | - |
GRCh38 GRCh37 |
108 | 144 | |
TOX4 | - | - |
GRCh38 GRCh37 |
32 | 74 |
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