NM_000494.4(COL17A1):c.4142C>T (p.Ser1381Leu) AND Epithelial recurrent erosion dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 3, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001197376.2
Allele description [Variation Report for NM_000494.4(COL17A1):c.4142C>T (p.Ser1381Leu)]
NM_000494.4(COL17A1):c.4142C>T (p.Ser1381Leu)
Condition(s)
Assertion and evidence details
Last Updated: Dec 17, 2022