NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr) AND Congenital myotonia, autosomal dominant form
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002267634.1
Allele description [Variation Report for NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr)]
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024