ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.47G>T (p.Gly16Val)

dbSNP: rs755131800
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662117 SCV000784460 uncertain significance Frontotemporal dementia 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662118 SCV000784461 uncertain significance Pick disease 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662119 SCV000784462 uncertain significance Progressive supranuclear ophthalmoplegia 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662120 SCV000784463 uncertain significance Parkinson disease, late-onset 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV000662117 SCV001229674 uncertain significance Frontotemporal dementia 2021-08-26 criteria provided, single submitter clinical testing

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