NM_000094.4(COL7A1):c.6248C>T (p.Thr2083Ile) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 11, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002715057.1
Allele description [Variation Report for NM_000094.4(COL7A1):c.6248C>T (p.Thr2083Ile)]
NM_000094.4(COL7A1):c.6248C>T (p.Thr2083Ile)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Feb 13, 2023