NM_004320.6(ATP2A1):c.1513C>T (p.Arg505Trp) AND Brody myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001970575.3
Allele description [Variation Report for NM_004320.6(ATP2A1):c.1513C>T (p.Arg505Trp)]
NM_004320.6(ATP2A1):c.1513C>T (p.Arg505Trp)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024