NM_001283.5(AP1S1):c.298G>A (p.Glu100Lys) AND MEDNIK syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003448873.2
Allele description [Variation Report for NM_001283.5(AP1S1):c.298G>A (p.Glu100Lys)]
NM_001283.5(AP1S1):c.298G>A (p.Glu100Lys)
Condition(s)
Assertion and evidence details
Last Updated: Apr 6, 2024