ClinVar Miner

Submissions for variant NC_000014.8:g.(?_55326389)_(55369420_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821275 SCV000962029 uncertain significance Dystonia 5; GTP cyclohydrolase I deficiency 2021-08-31 criteria provided, single submitter clinical testing

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