NM_001017420.3(ESCO2):c.1522A>G (p.Ile508Val) 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:
- RCV000300559.6
Allele description [Variation Report for NM_001017420.3(ESCO2):c.1522A>G (p.Ile508Val)]
NM_001017420.3(ESCO2):c.1522A>G (p.Ile508Val)
Condition(s)
- Name:
- Roberts-SC phocomelia syndrome (RBS)
- Synonyms:
- Tetraphocomelia-cleft palate syndrome; Roberts syndrome/SC phocomelia; Long bone deficiencies associated with cleft lip-palate; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0100253; MedGen: C0392475; Orphanet: 3103; OMIM: 268300
Assertion and evidence details
Last Updated: Sep 29, 2024