NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002527687.2
Allele description [Variation Report for NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)]
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Oct 13, 2024