NM_002709.3(PPP1CB):c.493G>C (p.Asp165His) AND Noonan syndrome-like disorder with loose anagen hair 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002310598.1
Allele description [Variation Report for NM_002709.3(PPP1CB):c.493G>C (p.Asp165His)]
NM_002709.3(PPP1CB):c.493G>C (p.Asp165His)
Condition(s)
Assertion and evidence details
Last Updated: Dec 3, 2022