NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) AND Lethal Kniest-like syndrome
- Germline classification:
- Uncertain significance (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:
- RCV001095866.12
Allele description [Variation Report for NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)]
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)
Condition(s)
Assertion and evidence details
Last Updated: Oct 20, 2024