NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) AND Schwartz-Jampel syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001096077.12
Allele description [Variation Report for NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val)]
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val)
Condition(s)
Assertion and evidence details
Last Updated: Apr 20, 2024