NM_006623.4(PHGDH):c.357-1G>A AND PHGDH deficiency
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Sep 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002554083.3
Allele description [Variation Report for NM_006623.4(PHGDH):c.357-1G>A]
NM_006623.4(PHGDH):c.357-1G>A
Condition(s)
Assertion and evidence details
Last Updated: Jun 23, 2024