ClinVar Miner

Submissions for variant NM_003859.2(DPM1):c.679-7_679-6insT (rs11480415)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000419498 SCV000511574 benign not provided 2016-12-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349084 SCV000434348 likely benign Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000530325 SCV000639040 likely benign Congenital disorder of glycosylation type 1E 2018-01-03 criteria provided, single submitter clinical testing

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