NM_001368882.1(COL13A1):c.799C>G (p.Pro267Ala) AND Congenital myasthenic syndrome 19
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003492976.2
Allele description [Variation Report for NM_001368882.1(COL13A1):c.799C>G (p.Pro267Ala)]
NM_001368882.1(COL13A1):c.799C>G (p.Pro267Ala)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024