ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.2667+11C>T (rs375898960)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000402288 SCV000734707 likely benign Choreoacanthocytosis no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402288 SCV000480761 uncertain significance Choreoacanthocytosis 2016-06-14 criteria provided, single submitter clinical testing

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