NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys) AND Batten-Turner congenital myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001158331.4
Allele description [Variation Report for NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys)]
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024