NM_176787.5(PIGN):c.672G>A (p.Ser224=) AND Multiple congenital anomalies-hypotonia-seizures syndrome 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 16, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002128935.6
Allele description [Variation Report for NM_176787.5(PIGN):c.672G>A (p.Ser224=)]
NM_176787.5(PIGN):c.672G>A (p.Ser224=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024