NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 16, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002496982.1
Allele description [Variation Report for NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala)]
NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala)
Condition(s)
- Name:
- Autosomal dominant Robinow syndrome 1
- Synonyms:
- Robinow dwarfism; Fetal face syndrome; Acral dysostosis with facial and genital abnormalities; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024455; MedGen: C4551475; Orphanet: 3107; Orphanet: 97360; OMIM: 180700
Assertion and evidence details
Last Updated: Mar 16, 2024