NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr) AND Schwartz-Jampel syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000316848.5
Allele description [Variation Report for NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)]
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)
Condition(s)
Assertion and evidence details
Last Updated: Oct 26, 2024