NM_000156.6(GAMT):c.600C>T (p.Ala200=) AND Cerebral creatine deficiency syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000471429.15
Allele description [Variation Report for NM_000156.6(GAMT):c.600C>T (p.Ala200=)]
NM_000156.6(GAMT):c.600C>T (p.Ala200=)
Condition(s)
Assertion and evidence details
Last Updated: Mar 23, 2024