NM_005592.4(MUSK):c.1719T>C (p.Asn573=) AND Congenital myasthenic syndrome 9
- 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:
- RCV001166934.4
Allele description [Variation Report for NM_005592.4(MUSK):c.1719T>C (p.Asn573=)]
NM_005592.4(MUSK):c.1719T>C (p.Asn573=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024