NM_005373.3(MPL):c.1058del (p.His353fs) AND Congenital amegakaryocytic thrombocytopenia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002309547.3
Allele description [Variation Report for NM_005373.3(MPL):c.1058del (p.His353fs)]
NM_005373.3(MPL):c.1058del (p.His353fs)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024