NM_016207.4(CPSF3):c.653G>A (p.Arg218Gln) AND Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003493384.1
Allele description [Variation Report for NM_016207.4(CPSF3):c.653G>A (p.Arg218Gln)]
NM_016207.4(CPSF3):c.653G>A (p.Arg218Gln)
Condition(s)
Assertion and evidence details
Last Updated: Feb 14, 2024