NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) AND MITF-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 23, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003974827.2
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)
- Name:
- MITF-related disorder
- Synonyms:
- MITF-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Nov 30, 2024