NM_003079.5(SMARCE1):c.748G>A (p.Glu250Lys) AND SMARCE1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003911789.1
Allele description [Variation Report for NM_003079.5(SMARCE1):c.748G>A (p.Glu250Lys)]
NM_003079.5(SMARCE1):c.748G>A (p.Glu250Lys)
Condition(s)
- Name:
- SMARCE1-related disorder
- Synonyms:
- SMARCE1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024