NM_005986.3(SOX1):c.523G>A (p.Gly175Ser) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004457538.1
Allele description [Variation Report for NM_005986.3(SOX1):c.523G>A (p.Gly175Ser)]
NM_005986.3(SOX1):c.523G>A (p.Gly175Ser)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: May 7, 2024