NM_030632.3(ASXL3):c.3324T>G (p.Ala1108=) AND Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Mar 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002260170.3
Allele description [Variation Report for NM_030632.3(ASXL3):c.3324T>G (p.Ala1108=)]
NM_030632.3(ASXL3):c.3324T>G (p.Ala1108=)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024