NM_014874.4(MFN2):c.227T>C (p.Leu76Pro) AND not provided
- Germline classification:
- Pathogenic (4 submissions)
- Last evaluated:
- Oct 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000200837.18
Allele description [Variation Report for NM_014874.4(MFN2):c.227T>C (p.Leu76Pro)]
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: May 7, 2024