NM_006941.4(SOX10):c.89C>A (p.Ser30Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001092010.22
Allele description
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: May 7, 2024