NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) AND Ehlers-Danlos syndrome, classic type, 2
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jul 10, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001001972.18
Allele description [Variation Report for NM_000393.5(COL5A2):c.1035G>C (p.Gly345=)]
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=)
Condition(s)
Assertion and evidence details
Last Updated: Mar 23, 2024