NM_000094.4(COL7A1):c.8016C>A (p.Ala2672=) AND COL7A1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003908637.1
Allele description [Variation Report for NM_000094.4(COL7A1):c.8016C>A (p.Ala2672=)]
NM_000094.4(COL7A1):c.8016C>A (p.Ala2672=)
Condition(s)
- Name:
- COL7A1-related disorder
- Synonyms:
- COL7A1-related condition; COL7A1- related disorders
- Identifiers:
Assertion and evidence details
Last Updated: May 12, 2024