NM_003124.5(SPR):c.-4G>C AND Dopa-responsive dystonia due to sepiapterin reductase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001141100.4
Allele description [Variation Report for NM_003124.5(SPR):c.-4G>C]
NM_003124.5(SPR):c.-4G>C
Condition(s)
Assertion and evidence details
Last Updated: Oct 14, 2023