ClinVar Miner

Submissions for variant NM_001166111.1(PNPLA6):c.4075C>T (p.Arg1359Trp) (rs374434303)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415064 SCV000492776 uncertain significance Dysarthria; Cerebellar atrophy; Gait ataxia 2014-05-19 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414761 SCV000492967 likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia; Cerebellar ataxia; Dysarthria 2014-05-19 criteria provided, single submitter clinical testing

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