NM_000057.4(BLM):c.1308T>C (p.Asp436=) AND Bloom syndrome
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Oct 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000628713.11
Allele description [Variation Report for NM_000057.4(BLM):c.1308T>C (p.Asp436=)]
NM_000057.4(BLM):c.1308T>C (p.Asp436=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024