NM_001203.3(BMPR1B):c.1384-8T>C AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002502353.3
Allele description [Variation Report for NM_001203.3(BMPR1B):c.1384-8T>C]
NM_001203.3(BMPR1B):c.1384-8T>C
Condition(s)
- Name:
- Type A2 brachydactyly (BDA2)
- Synonyms:
- BRACHYMESOPHALANGY II; Mohr-Wriedt type brachydactyly; Brachydactyly, type 2a; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007216; MedGen: C1832702; Orphanet: 93396; OMIM: 112600; Human Phenotype Ontology: HP:0009372
Assertion and evidence details
Last Updated: Apr 15, 2024