NM_006306.4(SMC1A):c.1269A>G (p.Gln423=) AND Congenital muscular hypertrophy-cerebral syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001165579.4
Allele description [Variation Report for NM_006306.4(SMC1A):c.1269A>G (p.Gln423=)]
NM_006306.4(SMC1A):c.1269A>G (p.Gln423=)
Condition(s)
Assertion and evidence details
Last Updated: Apr 9, 2023