ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2364G>A (p.Ser788=)

gnomAD frequency: 0.00001  dbSNP: rs377720312
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488020 SCV000575112 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001122795 SCV001281555 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV002063827 SCV002343230 likely benign Frontotemporal dementia 2021-10-09 criteria provided, single submitter clinical testing

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