ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.*78C>T (rs5848)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000353944 SCV000403354 benign Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000650262 SCV000772102 benign Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000022594 SCV000043883 risk factor FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO 2008-12-01 no assertion criteria provided literature only
Laboratory of Clinical and Experimental Pathology,Xuzhou Medical University RCV000791344 SCV000925756 affects Ischemic stroke no assertion criteria provided case-control

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