NM_138481.2(CHADL):c.1991T>C (p.Leu664Pro) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004187167.1
Allele description [Variation Report for NM_138481.2(CHADL):c.1991T>C (p.Leu664Pro)]
NM_138481.2(CHADL):c.1991T>C (p.Leu664Pro)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Jun 9, 2024