ClinVar Miner

Submissions for variant NM_000113.2(TOR1A):c.-52T>G

gnomAD frequency: 0.06326  dbSNP: rs114150156
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000264783 SCV000477604 likely benign Early-onset generalized limb-onset dystonia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001698509 SCV001916801 benign not provided 2018-07-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001698509 SCV005225849 likely benign not provided criteria provided, single submitter not provided

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