NM_005562.3(LAMC2):c.-6C>A AND Junctional epidermolysis bullosa gravis of Herlitz
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jul 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001537694.2
Allele description [Variation Report for NM_005562.3(LAMC2):c.-6C>A]
NM_005562.3(LAMC2):c.-6C>A
Condition(s)
- Name:
- Junctional epidermolysis bullosa gravis of Herlitz
- Synonyms:
- EPIDERMOLYSIS BULLOSA JUNCTIONALIS, HERLITZ TYPE; JEB-HERLITZ TYPE; Epidermolysis bullosa, junctional, Herlitz-Pearson type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009182; MedGen: C0079683; Orphanet: 79404; OMIM: 226700
Assertion and evidence details
Last Updated: Sep 29, 2024