NM_001017420.3(ESCO2):c.578G>A (p.Arg193Gln) AND Roberts-SC phocomelia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000378236.5
Allele description [Variation Report for NM_001017420.3(ESCO2):c.578G>A (p.Arg193Gln)]
NM_001017420.3(ESCO2):c.578G>A (p.Arg193Gln)
Condition(s)
Assertion and evidence details
Last Updated: Jan 26, 2024