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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_001482.3(GATM):c.407C>T (p.Thr136Met)
Benign
AGAT deficiency2023-01-25
1.0
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GATM Version 1.1.0N/A
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