NM_006941.4(SOX10):c.628G>A (p.Ala210Thr) AND Waardenburg 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:
- RCV001144417.13
Allele description [Variation Report for NM_006941.4(SOX10):c.628G>A (p.Ala210Thr)]
NM_006941.4(SOX10):c.628G>A (p.Ala210Thr)
Condition(s)
- Name:
- Waardenburg syndrome
- Synonyms:
- Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome; Ptosis-Epicanthus Syndrome; Mende Syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018094; MedGen: C3266898; OMIM: PS193500
Assertion and evidence details
Last Updated: Oct 8, 2024