NM_000057.4(BLM):c.3945C>T (p.Leu1315=) AND Bloom syndrome
- Germline classification:
- Benign (6 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000320678.23
Allele description [Variation Report for NM_000057.4(BLM):c.3945C>T (p.Leu1315=)]
NM_000057.4(BLM):c.3945C>T (p.Leu1315=)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024