ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2091+3G>A

dbSNP: rs63750013
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000084532 SCV000614052 pathogenic not provided 2017-03-15 criteria provided, single submitter clinical testing
GeneDx RCV000084532 SCV002599831 likely pathogenic not provided 2022-11-04 criteria provided, single submitter clinical testing Published functional studies demonstrate an increase in four-repeat over three-repeat tau isoforms, which leads to formation of abnormal tau filaments (Spillantini et al., 1998); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25556536, 22818528, 32184751, 16008820, 21753165, 30996196, 25525159, 9636220, 19786698, 10931371, 21849646, 21568901, 25628962, 25574752, 21986680, 25683866, 27222125, 22290573, 34274155, 33203472, 34099697)
VIB Department of Molecular Genetics, University of Antwerp RCV000084532 SCV000116668 not provided not provided no assertion provided not provided

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