NM_001458.5(FLNC):c.5132C>T (p.Pro1711Leu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002493170.1
Allele description [Variation Report for NM_001458.5(FLNC):c.5132C>T (p.Pro1711Leu)]
NM_001458.5(FLNC):c.5132C>T (p.Pro1711Leu)
Condition(s)
- Name:
- Myofibrillar myopathy 5
- Synonyms:
- FILAMINOPATHY, AUTOSOMAL DOMINANT; Myofibrillar myopathy, filamin C-related; Filaminopathy (type)
- Identifiers:
- MONDO: MONDO:0012289; MedGen: C1836050; OMIM: 609524
Assertion and evidence details
Last Updated: May 7, 2024