NM_002834.5(PTPN11):c.1520C>A (p.Thr507Lys) AND Noonan syndrome and Noonan-related syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001813438.3
Allele description [Variation Report for NM_002834.5(PTPN11):c.1520C>A (p.Thr507Lys)]
NM_002834.5(PTPN11):c.1520C>A (p.Thr507Lys)
Condition(s)
Assertion and evidence details
Last Updated: Nov 4, 2023