NM_000400.4(ERCC2):c.1958C>T (p.Thr653Ile) AND Trichothiodystrophy 1, photosensitive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001788953.1
Allele description [Variation Report for NM_000400.4(ERCC2):c.1958C>T (p.Thr653Ile)]
NM_000400.4(ERCC2):c.1958C>T (p.Thr653Ile)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024