NM_001082486.1(ACD):c.58G>A (p.Ala20Thr) AND Dyskeratosis congenita, autosomal dominant 6
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001335642.10
Allele description [Variation Report for NM_001082486.1(ACD):c.58G>A (p.Ala20Thr)]
NM_001082486.1(ACD):c.58G>A (p.Ala20Thr)
Condition(s)
Assertion and evidence details
Last Updated: Jun 9, 2024