NM_006012.4(CLPP):c.520C>T (p.Arg174Cys) AND Perrault syndrome 3
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Sep 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002497036.2
Allele description [Variation Report for NM_006012.4(CLPP):c.520C>T (p.Arg174Cys)]
NM_006012.4(CLPP):c.520C>T (p.Arg174Cys)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024