NM_001371623.1(TCOF1):c.3016G>A (p.Val1006Met) AND Treacher Collins syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 7, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000801757.6
Allele description [Variation Report for NM_001371623.1(TCOF1):c.3016G>A (p.Val1006Met)]
NM_001371623.1(TCOF1):c.3016G>A (p.Val1006Met)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024