ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=) (rs7025532)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000714178 SCV000844865 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000373807 SCV000734711 benign Choreoacanthocytosis no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373807 SCV000480795 likely benign Choreoacanthocytosis 2016-06-14 criteria provided, single submitter clinical testing

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