NM_014874.4(MFN2):c.1126A>G (p.Met376Val) AND Inborn genetic diseases
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 12, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002444815.9
Allele description [Variation Report for NM_014874.4(MFN2):c.1126A>G (p.Met376Val)]
NM_014874.4(MFN2):c.1126A>G (p.Met376Val)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Aug 25, 2024