NM_015295.3(SMCHD1):c.1173C>T (p.Asn391=) AND Facioscapulohumeral muscular dystrophy 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002218133.6
Allele description [Variation Report for NM_015295.3(SMCHD1):c.1173C>T (p.Asn391=)]
NM_015295.3(SMCHD1):c.1173C>T (p.Asn391=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024