NM_181458.4(PAX3):c.525G>C (p.Lys175Asn) AND Waardenburg syndrome type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000660211.1
Allele description [Variation Report for NM_181458.4(PAX3):c.525G>C (p.Lys175Asn)]
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024