NM_181458.4(PAX3):c.879G>T (p.Gly293=) AND Waardenburg syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 28, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000391338.5
Allele description [Variation Report for NM_181458.4(PAX3):c.879G>T (p.Gly293=)]
NM_181458.4(PAX3):c.879G>T (p.Gly293=)
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: Sep 29, 2024