ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1857A>G (p.Ala619=) (rs1052553)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243822 SCV000306670 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000295833 SCV000403484 benign MAPT-Related Spectrum Disorders 2018-01-13 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.
Athena Diagnostics Inc RCV000243822 SCV000614046 benign not specified 2011-02-25 criteria provided, single submitter clinical testing
Invitae RCV001510740 SCV001717850 benign Frontotemporal dementia 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000084512 SCV001873336 benign not provided 2018-08-11 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084512 SCV000116648 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000243822 SCV001808841 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000243822 SCV001918497 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000243822 SCV001959277 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000243822 SCV001967329 benign not specified no assertion criteria provided clinical testing

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