NM_001114753.3(ENG):c.120C>T (p.Gly40=) AND Telangiectasia, hereditary hemorrhagic, type 1
- Germline classification:
- Benign/Likely benign (3 submissions)
- Last evaluated:
- Nov 14, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000231697.19
Allele description [Variation Report for NM_001114753.3(ENG):c.120C>T (p.Gly40=)]
NM_001114753.3(ENG):c.120C>T (p.Gly40=)
Condition(s)
Assertion and evidence details
Last Updated: May 25, 2025