NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001751438.10
Allele description [Variation Report for NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln)]
NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Jun 9, 2024