NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer) AND Mitchell syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003475498.1
Allele description [Variation Report for NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer)]
NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer)
Condition(s)
Assertion and evidence details
Last Updated: Feb 1, 2025