NM_000057.4(BLM):c.3753del (p.Glu1251fs) AND Bloom syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Oct 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000670350.5
Allele description [Variation Report for NM_000057.4(BLM):c.3753del (p.Glu1251fs)]
NM_000057.4(BLM):c.3753del (p.Glu1251fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024