ClinVar Miner

Submissions for variant NM_002087.3(GRN):c.-72G>T (rs76783532)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000264312 SCV000403335 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732358 SCV000860308 benign not specified 2018-04-03 criteria provided, single submitter clinical testing

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