NM_005932.4(MIPEP):c.485T>G (p.Leu162Trp) AND Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 14, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000708563.2
Allele description [Variation Report for NM_005932.4(MIPEP):c.485T>G (p.Leu162Trp)]
NM_005932.4(MIPEP):c.485T>G (p.Leu162Trp)
Condition(s)
Assertion and evidence details
Last Updated: Aug 15, 2022