NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002514675.3
Allele description [Variation Report for NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)]
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Oct 26, 2024