ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) (rs17125721)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172776 SCV000051594 benign Alzheimer's disease 2013-06-24 criteria provided, single submitter research
PreventionGenetics,PreventionGenetics RCV000242303 SCV000301543 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382419 SCV000388102 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290884 SCV000388103 likely benign Early-Onset Familial Alzheimer Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000559984 SCV000639609 benign Alzheimer disease, type 3; Frontotemporal dementia; Pick's disease; Acne inversa, familial, 3 2017-07-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000242303 SCV000705960 benign not specified 2017-02-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000084390 SCV000843423 benign not provided 2017-09-22 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084390 SCV000116526 not provided not provided no assertion provided not provided

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