NM_152564.5(VPS13B):c.11339T>C (p.Val3780Ala) AND Cohen syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 25, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001048520.1
Allele description [Variation Report for NM_152564.5(VPS13B):c.11339T>C (p.Val3780Ala)]
NM_152564.5(VPS13B):c.11339T>C (p.Val3780Ala)
Condition(s)
Assertion and evidence details
Last Updated: Sep 17, 2022