NM_000156.6(GAMT):c.475del (p.Leu159fs) AND Deficiency of guanidinoacetate methyltransferase
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Sep 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002283405.2
Allele description [Variation Report for NM_000156.6(GAMT):c.475del (p.Leu159fs)]
NM_000156.6(GAMT):c.475del (p.Leu159fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024