NM_000057.4(BLM):c.1676A>T (p.Asp559Val) AND Bloom syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 25, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000807217.8
Allele description [Variation Report for NM_000057.4(BLM):c.1676A>T (p.Asp559Val)]
NM_000057.4(BLM):c.1676A>T (p.Asp559Val)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024