NM_015937.6(PIGT):c.1641C>T (p.Leu547=) AND Multiple congenital anomalies-hypotonia-seizures syndrome 3
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002979538.2
Allele description [Variation Report for NM_015937.6(PIGT):c.1641C>T (p.Leu547=)]
NM_015937.6(PIGT):c.1641C>T (p.Leu547=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 14, 2024