ClinVar Genomic variation as it relates to human health
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Pathogenic(1); Uncertain significance(1)
Pathogenic(1); 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 | |||
BLM | - | - |
GRCh38 GRCh37 |
4373 | 4425 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (2) |
|
Jan 11, 2024 | RCV000811037.11 | |
Uncertain significance (1) |
|
Jun 11, 2020 | RCV002363095.2 |
Citations for germline classification of this variant
HelpText-mined citations for rs1350192744 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Sep 29, 2024