NM_000057.4(BLM):c.4061G>T (p.Gly1354Val) AND Bloom syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001239768.6
Allele description [Variation Report for NM_000057.4(BLM):c.4061G>T (p.Gly1354Val)]
NM_000057.4(BLM):c.4061G>T (p.Gly1354Val)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024