NM_001354604.2(MITF):c.355-1062G>C AND Waardenburg syndrome type 2
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000722130.3
Allele description [Variation Report for NM_001354604.2(MITF):c.355-1062G>C]
NM_001354604.2(MITF):c.355-1062G>C
Condition(s)
- Name:
- Waardenburg syndrome type 2
- Synonyms:
- WS type 2
- Identifiers:
- MONDO: MONDO:0019517; MedGen: C2700265
Assertion and evidence details
Last Updated: Feb 28, 2024