NM_001378454.1(ALMS1):c.7020G>A (p.Thr2340=) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002365674.1
Allele description [Variation Report for NM_001378454.1(ALMS1):c.7020G>A (p.Thr2340=)]
NM_001378454.1(ALMS1):c.7020G>A (p.Thr2340=)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
Last Updated: Feb 28, 2024