NM_000551.4(VHL):c.193T>C (p.Ser65Pro) AND Von Hippel-Lindau syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Nov 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000660351.2
Allele description [Variation Report for NM_000551.4(VHL):c.193T>C (p.Ser65Pro)]
NM_000551.4(VHL):c.193T>C (p.Ser65Pro)
Condition(s)
Assertion and evidence details
Last Updated: Aug 5, 2023