ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.-167del

dbSNP: rs886056335
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000400072 SCV000432065 uncertain significance Perry syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV004576947 SCV000432066 uncertain significance Distal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing

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