ClinVar Miner

Submissions for variant NM_000447.3(PSEN2):c.129C>T (p.Asn43=) (rs6759)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576502 SCV000677436 benign Alzheimer disease, type 4 2017-04-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342061 SCV000355163 likely benign Early-Onset Familial Alzheimer Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378064 SCV000355164 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000244764 SCV000304357 benign not specified criteria provided, single submitter clinical testing

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