ClinVar Miner

Submissions for variant NM_007375.3(TARDBP):c.1098C>G (p.Ala366=) (rs148325203)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000353305 SCV000347116 likely benign Frontotemporal dementia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392664 SCV000347117 likely benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000518153 SCV000615747 benign not specified 2017-02-13 criteria provided, single submitter clinical testing
Invitae RCV000875373 SCV001017688 benign Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001096237 SCV001252434 likely benign Amyotrophic lateral sclerosis type 10 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.

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