NM_005932.4(MIPEP):c.309G>T (p.Gln103His) AND Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003448487.2
Allele description [Variation Report for NM_005932.4(MIPEP):c.309G>T (p.Gln103His)]
NM_005932.4(MIPEP):c.309G>T (p.Gln103His)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024