NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) AND Cystic fibrosis
- Germline classification:
- Pathogenic/Likely pathogenic (7 submissions)
- Last evaluated:
- Oct 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000668850.28
Allele description [Variation Report for NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)]
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
Condition(s)
-
Chain Y, 40S RIBOSOMAL PROTEIN S24
Chain Y, 40S RIBOSOMAL PROTEIN S24gi|969813072|pdb|5FLX|YProtein
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See more...Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000793522 | Counsyl | flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018)) | Uncertain significance (Aug 25, 2017) | unknown | clinical testing |
Last Updated: Oct 26, 2024