NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) AND Waardenburg syndrome type 2A
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2000
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000015347.29
Allele description [Variation Report for NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro)]
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro)
Condition(s)
Assertion and evidence details
Last Updated: Nov 30, 2024