NM_181458.4(PAX3):c.730C>T (p.Pro244Ser) AND Waardenburg syndrome type 1
- Germline classification:
- Uncertain significance (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:
- RCV000660214.1
Allele description [Variation Report for NM_181458.4(PAX3):c.730C>T (p.Pro244Ser)]
NM_181458.4(PAX3):c.730C>T (p.Pro244Ser)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024