NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) AND Cerebrooculofacioskeletal syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000384088.12
Allele description [Variation Report for NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn)]
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn)
Condition(s)
Assertion and evidence details
Last Updated: Nov 24, 2024