NM_001368882.1(COL13A1):c.1619del (p.Asn540fs) AND Congenital myasthenic syndrome 19
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001543596.1
Allele description [Variation Report for NM_001368882.1(COL13A1):c.1619del (p.Asn540fs)]
NM_001368882.1(COL13A1):c.1619del (p.Asn540fs)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023