NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) AND Metachondromatosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003147285.8
Allele description [Variation Report for NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)]
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)
Condition(s)
Assertion and evidence details
Last Updated: Jul 15, 2024