NM_000093.5(COL5A1):c.5335A>G (p.Asn1779Asp) AND Ehlers-Danlos syndrome, classic type
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 17, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001470053.13
Allele description [Variation Report for NM_000093.5(COL5A1):c.5335A>G (p.Asn1779Asp)]
NM_000093.5(COL5A1):c.5335A>G (p.Asn1779Asp)
Condition(s)
Assertion and evidence details
Last Updated: Jul 23, 2024