NM_005529.7(HSPG2):c.12992G>A (p.Ser4331Asn) AND Schwartz-Jampel syndrome
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Aug 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000375072.7
Allele description [Variation Report for NM_005529.7(HSPG2):c.12992G>A (p.Ser4331Asn)]
NM_005529.7(HSPG2):c.12992G>A (p.Ser4331Asn)
Condition(s)
Assertion and evidence details
Last Updated: Mar 30, 2024