NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) AND Progressive familial intrahepatic cholestasis type 3
- Germline classification:
- no classifications from unflagged records (1 submission)
- Last evaluated:
- Jul 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000190560.7
Allele description [Variation Report for NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)]
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
Condition(s)
- Name:
- Progressive familial intrahepatic cholestasis type 3
- Synonyms:
- Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase; MDR3 deficiency; Low Gamma-GT Familial Intrahepatic Cholestasis
- Identifiers:
- MONDO: MONDO:0011214; MedGen: C1865643; Orphanet: 79305; OMIM: 602347
Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000245567 | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine - CSER-MedSeq | flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (LMM Criteria) | Uncertain significance (Aug 22, 2014) | germline | clinical testing |
Last Updated: Oct 26, 2024