NM_000057.4(BLM):c.3933C>T (p.Ala1311=) AND Bloom syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000871824.17
Allele description [Variation Report for NM_000057.4(BLM):c.3933C>T (p.Ala1311=)]
NM_000057.4(BLM):c.3933C>T (p.Ala1311=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024