NM_001394062.1(MACF1):c.17521G>A (p.Glu5841Lys) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004690941.1
Allele description [Variation Report for NM_001394062.1(MACF1):c.17521G>A (p.Glu5841Lys)]
NM_001394062.1(MACF1):c.17521G>A (p.Glu5841Lys)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Aug 18, 2024