NM_001371623.1(TCOF1):c.1361C>T (p.Ala454Val) AND Treacher Collins syndrome 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000983898.6
Allele description [Variation Report for NM_001371623.1(TCOF1):c.1361C>T (p.Ala454Val)]
NM_001371623.1(TCOF1):c.1361C>T (p.Ala454Val)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024