NM_001354604.2(MITF):c.997G>T (p.Glu333Ter) AND MITF-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003411560.4
Allele description [Variation Report for NM_001354604.2(MITF):c.997G>T (p.Glu333Ter)]
NM_001354604.2(MITF):c.997G>T (p.Glu333Ter)
Condition(s)
- Name:
- MITF-related disorder
- Synonyms:
- MITF-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024