NM_000057.4(BLM):c.3426C>G (p.Ala1142=) AND Bloom syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 4, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001418968.13
Allele description [Variation Report for NM_000057.4(BLM):c.3426C>G (p.Ala1142=)]
NM_000057.4(BLM):c.3426C>G (p.Ala1142=)
Condition(s)
Assertion and evidence details
Last Updated: Apr 20, 2024