ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) (rs41307461)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518625 SCV000616260 uncertain significance not provided 2018-03-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000287997 SCV000734704 likely benign Choreoacanthocytosis no assertion criteria provided clinical testing
Fulgent Genetics,Fulgent Genetics RCV000287997 SCV000897528 uncertain significance Choreoacanthocytosis 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287997 SCV000480739 uncertain significance Choreoacanthocytosis 2016-06-14 criteria provided, single submitter clinical testing

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