NM_015295.3(SMCHD1):c.1290T>C (p.His430=) AND Facioscapulohumeral muscular dystrophy 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001083675.8
Allele description [Variation Report for NM_015295.3(SMCHD1):c.1290T>C (p.His430=)]
NM_015295.3(SMCHD1):c.1290T>C (p.His430=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024