ClinVar Miner

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

gnomAD frequency: 0.00213  dbSNP: rs63751443
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000084540 SCV000575111 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing MAPT: BS2
Invitae RCV001081972 SCV000632355 benign Frontotemporal dementia 2023-08-04 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)
Ambry Genetics RCV002514504 SCV003732476 likely benign Inborn genetic diseases 2021-11-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
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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