ClinVar Genomic variation as it relates to human health
NM_000057.4(BLM):c.2141C>G (p.Ser714Cys)
Germline
Classification
(4)
Conflicting classifications of pathogenicity
Uncertain significance(3); Likely benign(1)
Uncertain significance(3); Likely benign(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 | |||
BLM | - | - |
GRCh38 GRCh37 |
4514 | 4566 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 7, 2023 | RCV002600102.3 | |
Uncertain significance (1) |
|
Jun 21, 2023 | RCV003477010.1 | |
Likely benign (1) |
|
Jan 23, 2024 | RCV003492771.1 | |
Uncertain significance (1) |
|
Sep 26, 2024 | RCV004948718.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 13, 2025