NM_182943.3(PLOD2):c.836G>A (p.Cys279Tyr) AND Bruck syndrome 2
- 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:
- RCV001148010.4
Allele description [Variation Report for NM_182943.3(PLOD2):c.836G>A (p.Cys279Tyr)]
NM_182943.3(PLOD2):c.836G>A (p.Cys279Tyr)
Condition(s)
Assertion and evidence details
Last Updated: Apr 9, 2023