A team of experts reviewed 34 confusing genetic test results for a rare brain disorder and were able to clear up nearly two-thirds of the uncertainties, making it easier for doctors to give accurate...

Evidence from Studies

Supporting (1)

Community contributions welcome

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.

Computational/Algorithm Study

2024 May

Contradicting (0)

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No contradicting evidence found

Gold Standard Evidence Needed

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Source Study

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.

DOI: 10.1016/j.ymgme.2024.108362

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