NM_018263.6(ASXL2):c.4118T>C (p.Met1373Thr) AND Shashi-Pena syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000785146.3
Allele description [Variation Report for NM_018263.6(ASXL2):c.4118T>C (p.Met1373Thr)]
NM_018263.6(ASXL2):c.4118T>C (p.Met1373Thr)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024