NM_005732.4(RAD50):c.541_542delinsA (p.Ser181fs) AND Nijmegen breakage syndrome-like disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003469037.1
Allele description [Variation Report for NM_005732.4(RAD50):c.541_542delinsA (p.Ser181fs)]
NM_005732.4(RAD50):c.541_542delinsA (p.Ser181fs)
Condition(s)
Assertion and evidence details
Last Updated: Apr 20, 2024