NM_001015880.2(PAPSS2):c.883G>A (p.Gly295Ser) AND Spondyloepimetaphyseal dysplasia, PAPSS2 type
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001322588.5
Allele description [Variation Report for NM_001015880.2(PAPSS2):c.883G>A (p.Gly295Ser)]
NM_001015880.2(PAPSS2):c.883G>A (p.Gly295Ser)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023