NM_015295.3(SMCHD1):c.369A>G (p.Thr123=) AND Facioscapulohumeral muscular dystrophy 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002961903.2
Allele description [Variation Report for NM_015295.3(SMCHD1):c.369A>G (p.Thr123=)]
NM_015295.3(SMCHD1):c.369A>G (p.Thr123=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 14, 2024