ClinVar Genomic variation as it relates to human health
NM_006185.4(NUMA1):c.752T>C (p.Ile251Thr)
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 | |||
LOC100128494 | - | - | - | GRCh38 | - | 74 |
LOC126861257 | - | - | - | GRCh38 | - | 10 |
NUMA1 | - | - |
GRCh38 GRCh37 |
49 | 183 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
NUMA1-related disorder
|
Uncertain significance (1) |
|
Sep 4, 2023 | RCV003404437.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024