NM_000057.4(BLM):c.343C>T (p.Pro115Ser) AND Bloom syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Sep 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000696119.6
Allele description [Variation Report for NM_000057.4(BLM):c.343C>T (p.Pro115Ser)]
NM_000057.4(BLM):c.343C>T (p.Pro115Ser)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023