NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His) AND Loeys-Dietz syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003999913.1
Allele description [Variation Report for NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His)]
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024