ClinVar Miner

Submissions for variant NM_000113.3(TOR1A):c.*414del

gnomAD frequency: 0.14443  dbSNP: rs35153737
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000265511 SCV000477587 likely benign Early-onset generalized limb-onset dystonia 2016-06-14 criteria provided, single submitter clinical testing

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