NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) AND not provided
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- May 16, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000405708.29
Allele description [Variation Report for NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)]
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Aug 4, 2024