ClinVar Genomic variation as it relates to human health
NC_000020.10:g.(?_35569422)_(36500415_?)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 | |||
NNAT | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 9 | |
BLCAP | - | - |
GRCh38 GRCh37 |
5 | 14 | |
CTNNBL1 | - | - |
GRCh38 GRCh37 |
28 | 36 | |
GHRH | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 12 | |
MANBAL | - | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 16 |
MROH8 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 20 |
RBL1 | - | - |
GRCh38 GRCh37 |
45 | 52 | |
RPN2 | - | - |
GRCh38 GRCh38 GRCh37 |
173 | 193 | |
SAMHD1 | - | - |
GRCh38 GRCh37 |
814 | 895 | |
SRC | - | - |
GRCh38 GRCh38 GRCh37 |
66 | 77 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 5, 2022 | RCV003119602.3 | |
Uncertain significance (1) |
|
Feb 2, 2023 | RCV004579604.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 30, 2024