ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2060ATA[1] (p.Asn688del)

dbSNP: rs63751392
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000084581 SCV001961703 pathogenic not provided 2021-07-01 criteria provided, single submitter clinical testing
OMIM RCV000015334 SCV000035593 pathogenic Progressive supranuclear palsy-parkinsonism syndrome 2004-03-01 no assertion criteria provided literature only
OMIM RCV000015335 SCV000035594 risk factor Parkinson disease, late-onset 2004-03-01 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084581 SCV000116717 not provided not provided no assertion provided not provided

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