NM_030632.3(ASXL3):c.4624del (p.Ala1542fs) AND Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003152980.1
Allele description [Variation Report for NM_030632.3(ASXL3):c.4624del (p.Ala1542fs)]
NM_030632.3(ASXL3):c.4624del (p.Ala1542fs)
Condition(s)
Assertion and evidence details
Last Updated: Mar 26, 2023