NM_017777.4(MKS1):c.1274-2A>C AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002617261.2
Allele description [Variation Report for NM_017777.4(MKS1):c.1274-2A>C]
NM_017777.4(MKS1):c.1274-2A>C
Condition(s)
- Name:
- Familial aplasia of the vermis
- Synonyms:
- CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300
Assertion and evidence details
Last Updated: Feb 28, 2024