NM_004628.5(XPC):c.420_423del (p.Glu141fs) AND Xeroderma pigmentosum, group C
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Sep 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000665434.2
Allele description [Variation Report for NM_004628.5(XPC):c.420_423del (p.Glu141fs)]
NM_004628.5(XPC):c.420_423del (p.Glu141fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024