NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) AND multiple conditions
- Germline classification:
- no classifications from unflagged records (1 submission)
- Last evaluated:
- Jan 2, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000414796.3
Allele description [Variation Report for NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)]
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)
Condition(s)
- Name:
- Abnormal macular morphology
- Identifiers:
- MedGen: C4520679; Human Phenotype Ontology: HP:0001103
- Name:
- Peripheral neuropathy
- Identifiers:
- MONDO: MONDO:0005244; MedGen: C0031117; Human Phenotype Ontology: HP:0009830
Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000492964 | Centre for Mendelian Genomics, University Medical Centre Ljubljana | flagged submission Reason: New submission from submitter that appears to have been intended to update this older submission Notes: None (ACMG Guidelines, 2015) | Uncertain significance (Nov 28, 2013) | unknown | clinical testing |
Last Updated: Jul 15, 2024