NM_000057.4(BLM):c.3056A>C (p.His1019Pro) AND Bloom syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Nov 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001239564.6
Allele description [Variation Report for NM_000057.4(BLM):c.3056A>C (p.His1019Pro)]
NM_000057.4(BLM):c.3056A>C (p.His1019Pro)
Condition(s)
-
Paraesophageal hernia
Paraesophageal herniaMedGen
-
C0267725[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: May 1, 2024