ClinVar Miner

Submissions for variant NM_000447.3(PSEN2):c.1001C>G (p.Pro334Arg)

gnomAD frequency: 0.00001  dbSNP: rs63750207
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Total submissions: 3
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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 RCV000084267 SCV000051045 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002490737 SCV002790222 uncertain significance Alzheimer disease 4; Dilated cardiomyopathy 1V 2021-11-23 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084267 SCV000116403 not provided not provided no assertion provided not provided

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