NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) AND COFS syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000358951.6
Allele description [Variation Report for NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)]
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024