NM_005068.3(SIM1):c.1744T>C (p.Leu582=) AND SIM1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004554468.1
Allele description [Variation Report for NM_005068.3(SIM1):c.1744T>C (p.Leu582=)]
NM_005068.3(SIM1):c.1744T>C (p.Leu582=)
Condition(s)
- Name:
- SIM1-related disorder
- Synonyms:
- SIM1-Related Disorders; SIM1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Sep 29, 2024