NM_001099735.2(CKMT2):c.1060C>T (p.Arg354Cys) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003004364.1
Allele description [Variation Report for NM_001099735.2(CKMT2):c.1060C>T (p.Arg354Cys)]
NM_001099735.2(CKMT2):c.1060C>T (p.Arg354Cys)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Feb 13, 2023