ClinVar Miner

Submissions for variant NM_007375.3(TARDBP):c.198T>C (p.Ala66=) (rs61730366)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000625045 SCV000347104 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). 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.
Illumina Clinical Services Laboratory,Illumina RCV000384501 SCV000347105 likely benign Frontotemporal dementia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000516412 SCV000615748 benign not specified 2017-07-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625045 SCV000743618 benign Amyotrophic lateral sclerosis type 10 2014-10-10 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625045 SCV000744937 likely benign Amyotrophic lateral sclerosis type 10 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000646151 SCV000767909 benign Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000516412 SCV001159167 benign not specified 2019-05-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625045 SCV000745748 likely benign Amyotrophic lateral sclerosis type 10 2015-12-29 no assertion criteria provided clinical testing

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