ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.416T>C (p.Met139Thr)

dbSNP: rs63751106
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine RCV001290408 SCV001478336 pathogenic Alzheimer disease 3 2020-07-01 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084305 SCV000116441 not provided not provided no assertion provided not provided

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