ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2091+29G>A (rs63751443)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000084540 SCV000575111 likely benign not provided 2021-09-01 criteria provided, single submitter clinical testing
Invitae RCV001081972 SCV000632355 benign Frontotemporal dementia 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000084540 SCV001144472 benign not provided 2019-07-08 criteria provided, single submitter clinical testing
GeneDx RCV000084540 SCV001950553 benign not provided 2019-07-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12615641, 17071927)
VIB Department of Molecular Genetics, University of Antwerp RCV000084540 SCV000116676 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000084540 SCV001932208 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001725968 SCV001965277 benign not specified no assertion criteria provided clinical testing

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