ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2231C>T (p.Ser744Leu)

gnomAD frequency: 0.00001  dbSNP: rs63750425
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV002508759 SCV000035596 pathogenic Supranuclear palsy, progressive, 1 2003-11-01 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084550 SCV000116686 not provided not provided no assertion provided not provided

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