ClinVar Genomic variation as it relates to human health
NM_016556.4(PSMC3IP):c.646G>A (p.Asp216Asn)
Germline
Classification
(1)
Likely benign
no assertion criteria provided
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 | |||
MLX | - | - |
GRCh38 GRCh37 |
16 | 38 | |
PSMC3IP | - | - |
GRCh38 GRCh37 |
30 | 51 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
PSMC3IP-related disorder
|
Likely benign (1) |
|
Mar 20, 2024 | RCV004758503.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024