NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs) AND Cardiovascular phenotype
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 2, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002323816.3
Allele description [Variation Report for NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs)]
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
Last Updated: Aug 4, 2024