ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.220+2535A>G (rs1800547)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249235 SCV000306674 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000353232 SCV000403477 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 RCV000249235 SCV000614042 benign not specified 2011-02-25 criteria provided, single submitter clinical testing
Invitae RCV001510734 SCV001717842 benign Frontotemporal dementia 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV001636762 SCV001848768 benign not provided 2018-08-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000249235 SCV001808186 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000249235 SCV001923319 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000249235 SCV001954681 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000249235 SCV001967688 benign not specified no assertion criteria provided clinical testing

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