NM_002465.4(MYBPC1):c.*246dup AND Distal arthrogryposis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000303624.7
Allele description [Variation Report for NM_002465.4(MYBPC1):c.*246dup]
NM_002465.4(MYBPC1):c.*246dup
Condition(s)
- Name:
- Distal arthrogryposis
- Identifiers:
- MONDO: MONDO:0019942; MedGen: C0265213; OMIM: PS108120; Human Phenotype Ontology: HP:0005684
Assertion and evidence details
Last Updated: Apr 9, 2023