NM_014319.5(LEMD3):c.299A>T (p.Tyr100Phe) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002556148.2
Allele description [Variation Report for NM_014319.5(LEMD3):c.299A>T (p.Tyr100Phe)]
NM_014319.5(LEMD3):c.299A>T (p.Tyr100Phe)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 1, 2024