NM_014251.3(SLC25A13):c.1592-13_1592-12del AND Citrin deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 17, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003581482.2
Allele description [Variation Report for NM_014251.3(SLC25A13):c.1592-13_1592-12del]
NM_014251.3(SLC25A13):c.1592-13_1592-12del
Condition(s)
- Name:
- Citrin deficiency
- Identifiers:
- MONDO: MONDO:0016602; MedGen: C1997910
Assertion and evidence details
Last Updated: Sep 29, 2024