NM_000400.4(ERCC2):c.1934_1958dup (p.Thr653_Phe654insAspSerTer) AND Cerebrooculofacioskeletal syndrome 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003467910.1
Allele description [Variation Report for NM_000400.4(ERCC2):c.1934_1958dup (p.Thr653_Phe654insAspSerTer)]
NM_000400.4(ERCC2):c.1934_1958dup (p.Thr653_Phe654insAspSerTer)
Condition(s)
Assertion and evidence details
Last Updated: Dec 30, 2023