ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) (rs63749836)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000084352 SCV000614825 likely pathogenic not provided 2016-12-29 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763347 SCV000894034 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
VIB Department of Molecular Genetics, University of Antwerp RCV000084352 SCV000116488 not provided not provided no assertion provided not provided

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