NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 21, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001816865.4
Allele description [Variation Report for NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr)]
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Sep 29, 2024