ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) (rs149037185)

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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 RCV000714171 SCV000844858 likely benign not provided 2018-03-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000262961 SCV000734705 likely benign Choreoacanthocytosis no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262961 SCV000480750 uncertain significance Choreoacanthocytosis 2016-06-14 criteria provided, single submitter clinical testing

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