NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) AND not provided
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Mar 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000153245.18
Allele description [Variation Report for NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)]
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000202719 | Eurofins Ntd Llc (ga) | flagged submission Reason: Older and outlier claim with insufficient supporting evidence Notes: None (EGL Classification Definitions 2015) | Uncertain significance (Jan 21, 2014) | germline | clinical testing |
Last Updated: Oct 26, 2024