NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) AND SETD2-related disorder
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Jan 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001267684.2
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)
- Name:
- SETD2-related disorder
- Identifiers:
Assertion and evidence details
Last Updated: Sep 8, 2024