NM_138694.4(PKHD1):c.95T>C (p.Leu32Pro) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003377247.2
Allele description [Variation Report for NM_138694.4(PKHD1):c.95T>C (p.Leu32Pro)]
NM_138694.4(PKHD1):c.95T>C (p.Leu32Pro)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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Last Updated: May 1, 2024