NM_001368882.1(COL13A1):c.2022+1G>C AND Congenital myasthenic syndrome 19
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003493228.2
Allele description [Variation Report for NM_001368882.1(COL13A1):c.2022+1G>C]
NM_001368882.1(COL13A1):c.2022+1G>C
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024