NM_004415.4(DSP):c.7734C>T (p.Ser2578=) AND Epidermolysis bullosa simplex due to plakophilin deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000339026.13
Allele description [Variation Report for NM_004415.4(DSP):c.7734C>T (p.Ser2578=)]
NM_004415.4(DSP):c.7734C>T (p.Ser2578=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 1, 2024