Showing 1 to 2 of 2 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu)
Uncertain Significance
creatine transporter deficiency2024-11-13
1.1
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC6A8 Version 1.1.0SLC6A8
View NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu)
Uncertain Significance
creatine transporter deficiency2022-10-08
1.0
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC6A8 Version 1SLC6A8
Showing 1 to 2 of 2 rows