NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) AND Xeroderma pigmentosum group B
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Oct 8, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000018055.33
Allele description [Variation Report for NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)]
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)
Condition(s)
Assertion and evidence details
Last Updated: Jul 13, 2025