NM_182943.3(PLOD2):c.2229T>C (p.Pro743=) AND Bruck syndrome 2
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Mar 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001145154.5
Allele description [Variation Report for NM_182943.3(PLOD2):c.2229T>C (p.Pro743=)]
NM_182943.3(PLOD2):c.2229T>C (p.Pro743=)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024