NM_012330.4(KAT6B):c.3957G>T (p.Leu1319Phe) AND Genitopatellar syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002073179.6
Allele description [Variation Report for NM_012330.4(KAT6B):c.3957G>T (p.Leu1319Phe)]
NM_012330.4(KAT6B):c.3957G>T (p.Leu1319Phe)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024