ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) (rs63750043)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086038 SCV000652428 likely benign Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000084437 SCV000843037 benign not provided 2017-10-09 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000084437 SCV001151344 likely benign not provided 2018-07-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001125933 SCV001285071 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.
VIB Department of Molecular Genetics, University of Antwerp RCV000084437 SCV000116573 not provided not provided no assertion provided not provided
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000084437 SCV000801381 uncertain significance not provided 2017-11-03 no assertion criteria provided clinical testing

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