NM_000093.5(COL5A1):c.4836C>T (p.Phe1612=) AND Ehlers-Danlos syndrome, classic type
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 5, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000634680.4
Assertion and evidence details
Last Updated: Apr 23, 2022