NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) AND Congenital cerebellar hypoplasia
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001258009.1
Allele description [Variation Report for NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)]
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024