ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) (rs63751223)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000084411 SCV000614818 likely pathogenic not provided 2017-03-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763348 SCV000894035 likely pathogenic Alzheimer disease, type 3; Frontotemporal dementia; Pick's disease; Cardiomyopathy, dilated, 1u; Acne inversa, familial, 3 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000019766 SCV000040064 pathogenic Alzheimer disease, type 3 1998-01-01 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084411 SCV000116547 not provided not provided no assertion provided not provided

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