NM_017890.4(VPS13B):c.901_904delACTT (p.Thr301Valfs) AND Cohen syndrome
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Apr 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000412175.1
Assertion and evidence details
Last Updated: Aug 5, 2019