ClinVar Miner

Submissions for variant NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) (rs63750197)

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Total submissions: 7
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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 RCV000172588 SCV000051048 likely benign Alzheimer disease 2013-06-24 criteria provided, single submitter research
Athena Diagnostics Inc RCV000084261 SCV000843425 likely benign not provided 2019-04-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000009401 SCV001255647 benign Alzheimer disease, type 4 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000009400 SCV001255648 benign Dilated cardiomyopathy 1V 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
OMIM RCV000009400 SCV000029618 pathogenic Dilated cardiomyopathy 1V 2006-12-01 no assertion criteria provided literature only
OMIM RCV000009401 SCV000029619 pathogenic Alzheimer disease, type 4 2006-12-01 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084261 SCV000116397 not provided not provided no assertion provided not provided

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