ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1704G>A (p.Pro568=) (rs1052551)

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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 RCV000243513 SCV000306667 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000330758 SCV000403482 benign MAPT-Related Spectrum Disorders 2018-01-12 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 RCV000243513 SCV000614045 benign not specified 2011-02-25 criteria provided, single submitter clinical testing
Invitae RCV001510738 SCV001717848 benign Frontotemporal dementia 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000084509 SCV001863780 benign not provided 2018-08-11 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084509 SCV000116645 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000243513 SCV001807729 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000243513 SCV001922495 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000243513 SCV001951746 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000243513 SCV001966924 benign not specified no assertion criteria provided clinical testing

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