NM_002473.6(MYH9):c.4519G>C (p.Glu1507Gln) AND Macrothrombocytopenia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000852129.1
Allele description [Variation Report for NM_002473.6(MYH9):c.4519G>C (p.Glu1507Gln)]
NM_002473.6(MYH9):c.4519G>C (p.Glu1507Gln)
Condition(s)
- Name:
- Macrothrombocytopenia
- Identifiers:
- MedGen: C2751260; Human Phenotype Ontology: HP:0040185
Assertion and evidence details
Last Updated: Apr 23, 2022