NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu) AND ERCC6-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004537692.1
Allele description [Variation Report for NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu)]
NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu)
Condition(s)
- Name:
- ERCC6-related disorder
- Synonyms:
- ERCC6-Related Disorders; ERCC6-related condition
- Identifiers:
- MedGen: CN239385
Assertion and evidence details
Last Updated: Jun 9, 2024