ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(?_149613783)_(150573536_?)del
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Pathogenic(1); Uncertain significance(1)
Pathogenic(1); Uncertain significance(1)
criteria provided, conflicting classifications
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 | |||
MTM1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
747 | 950 | |
CD99L2 | - | - |
GRCh38 GRCh37 |
30 | 220 | |
GPR50 | - | - |
GRCh38 GRCh37 |
43 | 237 | |
GPR50-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 194 |
HMGB3 | - | - |
GRCh38 GRCh37 |
13 | 199 | |
MAMLD1 | - | - |
GRCh38 GRCh37 |
106 | 304 | |
MTMR1 | - | - |
GRCh38 GRCh37 |
42 | 235 | |
VMA21 | - | - |
GRCh38 GRCh37 |
84 | 271 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 4, 2022 | RCV003122264.3 | |
Pathogenic (1) |
|
Oct 4, 2022 | RCV003122263.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024