NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) AND Luscan-Lumish syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (7 submissions)
- Last evaluated:
- Feb 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000853394.9
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: Aug 25, 2024