NM_032634.4(PIGO):c.2192G>T (p.Arg731Leu) AND Hyperphosphatasia with intellectual disability syndrome 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002587591.3
Allele description [Variation Report for NM_032634.4(PIGO):c.2192G>T (p.Arg731Leu)]
NM_032634.4(PIGO):c.2192G>T (p.Arg731Leu)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024