NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys) AND Congenital muscular hypertrophy-cerebral syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Apr 7, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000147566.13
Allele description [Variation Report for NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys)]
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024