NM_003590.5(CUL3):c.1549_1552del (p.Ser517fs) AND Abnormal cardiovascular system morphology
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002463785.1
Allele description [Variation Report for NM_003590.5(CUL3):c.1549_1552del (p.Ser517fs)]
NM_003590.5(CUL3):c.1549_1552del (p.Ser517fs)
Condition(s)
- Name:
- Abnormal cardiovascular system morphology
- Synonyms:
- Abnormality of cardiovascular system morphology
- Identifiers:
- MedGen: C4049796; Human Phenotype Ontology: HP:0030680
Assertion and evidence details
Last Updated: Sep 29, 2024