NM_020436.5(SALL4):c.3062C>T (p.Ser1021Leu) AND Duane-radial ray syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003607562.1
Allele description [Variation Report for NM_020436.5(SALL4):c.3062C>T (p.Ser1021Leu)]
NM_020436.5(SALL4):c.3062C>T (p.Ser1021Leu)
Condition(s)
- Name:
- Duane-radial ray syndrome (DRRS)
- Synonyms:
- DR SYNDROME; DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS; Acrorenoocular syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011812; MedGen: C1623209; Orphanet: 959; OMIM: 607323
Assertion and evidence details
Last Updated: Feb 28, 2024