NM_000057.4(BLM):c.1220G>C (p.Arg407Thr) AND Bloom syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jan 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000811037.11
Allele description [Variation Report for NM_000057.4(BLM):c.1220G>C (p.Arg407Thr)]
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024