NM_170606.3(KMT2C):c.8849_8850del (p.His2950fs) AND Kleefstra syndrome 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003989661.1
Allele description [Variation Report for NM_170606.3(KMT2C):c.8849_8850del (p.His2950fs)]
NM_170606.3(KMT2C):c.8849_8850del (p.His2950fs)
Condition(s)
Assertion and evidence details
Last Updated: Jun 23, 2024