ClinVar Genomic variation as it relates to human health
NM_000045.4(ARG1):c.314_345delinsATGCAAGCATCAGGATGACT (p.Ile105_His115delinsAsnAlaSerIleArgMetThr)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Likely pathogenic(2); Uncertain significance(1)
Likely pathogenic(2); 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 | |||
ARG1 | - | - |
GRCh38 GRCh37 |
39 | 548 | |
MED23 | - | - |
GRCh38 GRCh37 |
176 | 685 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 28, 2022 | RCV002308673.8 | |
Likely pathogenic (1) |
|
Dec 7, 2021 | RCV003147761.8 | |
Likely pathogenic (1) |
|
Feb 10, 2023 | RCV003317591.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024