NM_005188.4(CBL):c.1253T>C (p.Phe418Ser) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004040834.1
Allele description [Variation Report for NM_005188.4(CBL):c.1253T>C (p.Phe418Ser)]
NM_005188.4(CBL):c.1253T>C (p.Phe418Ser)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
Last Updated: May 7, 2024