NM_000057.4(BLM):c.3135T>G (p.Phe1045Leu) AND Bloom syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002301894.4
Allele description [Variation Report for NM_000057.4(BLM):c.3135T>G (p.Phe1045Leu)]
NM_000057.4(BLM):c.3135T>G (p.Phe1045Leu)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024