ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.1385dup (p.Tyr462Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences RCV003231062 SCV003926639 likely pathogenic Biotin-responsive basal ganglia disease 2023-05-30 criteria provided, single submitter clinical testing

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