ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5222dup (p.Asp1742fs) (rs730882209)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516643 SCV000615193 pathogenic not provided 2016-09-13 criteria provided, single submitter clinical testing
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162115 SCV000196400 likely pathogenic Cerebellar ataxia; Nystagmus; Cerebellar atrophy; Dysmetria; Slurred speech; Dysdiadochokinesis; Slightly reduced reflexes 2014-12-01 no assertion criteria provided research

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