ClinVar Miner

Submissions for variant GRCh37/hg19 16q24.3(chr16:89616901-89620368)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626564 SCV000747265 likely pathogenic Seizures; Memory impairment; Gait ataxia; Spastic paraplegia 2017-01-01 criteria provided, single submitter clinical testing

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