NM_170707.4(LMNA):c.953C>T (p.Ala318Val) AND Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 28, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001098489.4
Allele description [Variation Report for NM_170707.4(LMNA):c.953C>T (p.Ala318Val)]
NM_170707.4(LMNA):c.953C>T (p.Ala318Val)
Condition(s)
- Name:
- Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
- Identifiers:
- MedGen: CN239184
Assertion and evidence details
Last Updated: May 7, 2024