ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1708G>A (p.Ala570Thr)

gnomAD frequency: 0.01415  dbSNP: rs63750612
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246861 SCV000306668 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000387650 SCV000403483 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.
Invitae RCV001079276 SCV001001588 benign Frontotemporal dementia 2021-12-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000084510 SCV001144471 benign not provided 2018-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000084510 SCV001841440 benign not provided 2019-03-19 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084510 SCV000116646 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000246861 SCV001808067 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000246861 SCV001975313 benign not specified no assertion criteria provided clinical testing

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