NM_001017420.3(ESCO2):c.1735C>A (p.Pro579Thr) AND Roberts-SC phocomelia syndrome
- Germline classification:
- Benign (2 submissions)
- 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:
- RCV000322985.6
Allele description [Variation Report for NM_001017420.3(ESCO2):c.1735C>A (p.Pro579Thr)]
NM_001017420.3(ESCO2):c.1735C>A (p.Pro579Thr)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024