ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q31.1(chr7:107981349-110641907)x3
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 | |||
IMMP2L | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
32 | 118 | |
DNAJB9 | - | - |
GRCh38 GRCh37 |
18 | 43 | |
LINC02903 | - | - | - |
GRCh38 GRCh37 |
1 | 23 |
NRCAM | - | - |
GRCh38 GRCh37 |
122 | 147 | |
PNPLA8 | - | - |
GRCh38 GRCh37 |
296 | 322 | |
THAP5 | - | - |
GRCh38 GRCh37 |
23 | 48 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 24, 2022 | RCV003484699.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024