NM_005245.4(FAT1):c.2600_2601del (p.Thr867fs) AND Congenital myasthenic syndrome 12
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 20, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000991431.1
Allele description [Variation Report for NM_005245.4(FAT1):c.2600_2601del (p.Thr867fs)]
NM_005245.4(FAT1):c.2600_2601del (p.Thr867fs)
Condition(s)
Assertion and evidence details
Last Updated: May 24, 2022