NM_001458.5(FLNC):c.3000T>C (p.Asp1000=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002494730.2
Allele description [Variation Report for NM_001458.5(FLNC):c.3000T>C (p.Asp1000=)]
NM_001458.5(FLNC):c.3000T>C (p.Asp1000=)
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: Oct 8, 2024