NM_139343.3(BIN1):c.1147C>T (p.Pro383Ser) AND Myopathy, centronuclear, 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000794777.6
Allele description [Variation Report for NM_139343.3(BIN1):c.1147C>T (p.Pro383Ser)]
NM_139343.3(BIN1):c.1147C>T (p.Pro383Ser)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024