NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter) AND Fanconi anemia complementation group D2
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Feb 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001781082.5
Allele description [Variation Report for NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter)]
NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024