NM_001082538.3(TCTN1):c.220+15C>A AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002996309.2
Allele description
NM_001082538.3(TCTN1):c.220+15C>A
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