NM_004320.6(ATP2A1):c.2060T>C (p.Ile687Thr) AND Brody myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001317078.5
Allele description [Variation Report for NM_004320.6(ATP2A1):c.2060T>C (p.Ile687Thr)]
NM_004320.6(ATP2A1):c.2060T>C (p.Ile687Thr)
Condition(s)
Assertion and evidence details
Last Updated: Aug 5, 2023