ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) (rs63750412)

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Total submissions: 7
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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 RCV000084483 SCV000280695 likely benign not provided 2015-10-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000576498 SCV000403349 likely benign Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 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.
Athena Diagnostics Inc RCV000576498 SCV000677376 benign Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV001079475 SCV000772103 benign Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716742 SCV000847585 benign Seizures 2018-07-13 criteria provided, single submitter clinical testing Other strong data supporting benign classification;Other strong data
CeGaT Praxis fuer Humangenetik Tuebingen RCV000084483 SCV001151347 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084483 SCV000116619 not provided not provided no assertion provided not provided

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