NM_001100.4(ACTA1):c.546G>A (p.Leu182=) AND ACTA1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003908793.2
Allele description [Variation Report for NM_001100.4(ACTA1):c.546G>A (p.Leu182=)]
NM_001100.4(ACTA1):c.546G>A (p.Leu182=)
Condition(s)
- Name:
- ACTA1-related disorder
- Synonyms:
- ACTA1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Oct 8, 2024