NM_001365276.2(TNXB):c.1336G>C (p.Glu446Gln) AND Ehlers-Danlos syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002278099.3
Allele description [Variation Report for NM_001365276.2(TNXB):c.1336G>C (p.Glu446Gln)]
NM_001365276.2(TNXB):c.1336G>C (p.Glu446Gln)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023