ClinVar Miner

Submissions for variant NM_000447.3(PSEN2):c.185G>A (p.Arg62His) (rs58973334)

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Total submissions: 6
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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 RCV000172777 SCV000051595 benign Alzheimer's disease 2013-06-24 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000283560 SCV000355165 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347900 SCV000355166 likely benign Early-Onset Familial Alzheimer Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000084258 SCV000762647 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000641029 SCV000803616 likely benign Alzheimer disease, type 4 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Likely Benign, for Alzheimer disease 4, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: BS3 => Well-established in vitro or in vivo functional studies show no damaging effect on protein function or splicing (PMID:15663477). BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). BS1-Supporting => BS1 downgraded in strength to supporting.
VIB Department of Molecular Genetics, University of Antwerp RCV000084258 SCV000116394 not provided not provided no assertion provided not provided

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