NM_000124.4(ERCC6):c.527G>A (p.Arg176Gln) AND DE SANCTIS-CACCHIONE SYNDROME
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003225759.8
Allele description [Variation Report for NM_000124.4(ERCC6):c.527G>A (p.Arg176Gln)]
NM_000124.4(ERCC6):c.527G>A (p.Arg176Gln)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024