ClinVar Miner

Submissions for variant NC_000001.11:g.29203234del

dbSNP: rs1574315873
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995577 SCV001149832 pathogenic Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 2019-06-13 criteria provided, single submitter clinical testing

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