NM_005373.3(MPL):c.79+2T>A AND Congenital amegakaryocytic thrombocytopenia
- Germline classification:
- Pathogenic/Likely pathogenic (5 submissions)
- Last evaluated:
- Dec 20, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000586535.13
Allele description [Variation Report for NM_005373.3(MPL):c.79+2T>A]
NM_005373.3(MPL):c.79+2T>A
Condition(s)
Assertion and evidence details
Last Updated: Jul 23, 2024