NM_001378615.1(CC2D2A):c.495A>G (p.Arg165=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003030289.10
Allele description [Variation Report for NM_001378615.1(CC2D2A):c.495A>G (p.Arg165=)]
NM_001378615.1(CC2D2A):c.495A>G (p.Arg165=)
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: Oct 26, 2024