ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2120T>G (p.Leu707Arg)

dbSNP: rs63749855
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
VIB Department of Molecular Genetics, University of Antwerp RCV000084541 SCV000116677 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000084541 SCV001808151 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000084541 SCV001965187 pathogenic not provided no assertion criteria provided clinical testing

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