NM_012200.4(B3GAT3):c.619-12G>A AND Larsen-like syndrome, B3GAT3 type
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- May 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002108865.6
Allele description [Variation Report for NM_012200.4(B3GAT3):c.619-12G>A]
NM_012200.4(B3GAT3):c.619-12G>A
Condition(s)
- Name:
- Larsen-like syndrome, B3GAT3 type
- Synonyms:
- LARSEN SYNDROME, AUTOSOMAL RECESSIVE; Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects; MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
- Identifiers:
- MONDO: MONDO:0009511; MedGen: C3278404; Orphanet: 284139; OMIM: 245600
Assertion and evidence details
Last Updated: Feb 28, 2024