NM_000057.4(BLM):c.182G>T (p.Arg61Ile) AND Bloom syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000465204.4
Allele description [Variation Report for NM_000057.4(BLM):c.182G>T (p.Arg61Ile)]
NM_000057.4(BLM):c.182G>T (p.Arg61Ile)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024