ClinVar Miner

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

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Total submissions: 6
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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 RCV000545742 SCV000363441 likely benign Familial hemophagocytic lymphohistiocytosis 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
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 Familial hemophagocytic lymphohistiocytosis 2 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000545742 SCV001138070 benign Familial hemophagocytic lymphohistiocytosis 2 2019-05-28 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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