NM_031475.3(ESPN):c.2141C>T (p.Pro714Leu) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003006806.2
Allele description [Variation Report for NM_031475.3(ESPN):c.2141C>T (p.Pro714Leu)]
NM_031475.3(ESPN):c.2141C>T (p.Pro714Leu)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 1, 2024