NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs) AND Roberts-SC phocomelia syndrome
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Aug 7, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000020394.6
Allele description [Variation Report for NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs)]
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024