ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.11G>A (p.Arg4His) (rs35418374)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242526 SCV000306472 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324231 SCV000363441 likely benign Familial hemophagocytic lymphohistiocytosis 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000425105 SCV000510796 benign not provided 2016-09-01 criteria provided, single submitter clinical testing
Invitae RCV000545742 SCV000644875 benign Hemophagocytic lymphohistiocytosis, familial, 2 2017-08-11 criteria provided, single submitter clinical testing
OMIM RCV000014723 SCV000034978 pathogenic Aplastic anemia 2007-06-15 no assertion criteria provided literature only

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