NM_174922.5(ADCK5):c.1190T>A (p.Leu397His) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004134790.1
Allele description [Variation Report for NM_174922.5(ADCK5):c.1190T>A (p.Leu397His)]
NM_174922.5(ADCK5):c.1190T>A (p.Leu397His)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Nov 24, 2024