NM_181458.4(PAX3):c.167G>T (p.Arg56Leu) AND Waardenburg syndrome type 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 1, 1993
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000004438.4
Allele description [Variation Report for NM_181458.4(PAX3):c.167G>T (p.Arg56Leu)]
NM_181458.4(PAX3):c.167G>T (p.Arg56Leu)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024