NM_000156.6(GAMT):c.516C>T (p.Thr172=) AND Cerebral creatine deficiency syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 25, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002104484.6
Allele description [Variation Report for NM_000156.6(GAMT):c.516C>T (p.Thr172=)]
NM_000156.6(GAMT):c.516C>T (p.Thr172=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024