ClinVar Miner

Submissions for variant NM_006172.4(NPPA):c.454T>C (p.Ter152Arg) (rs5065)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000220174 SCV000269469 benign not specified 2015-07-31 criteria provided, single submitter clinical testing p.X152ArgextX3 in exon 3 of NPPA: This variant is not expected to have clinical significance since it has been identified in 40.1% (4244/10406) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs5065).
PreventionGenetics,PreventionGenetics RCV000220174 SCV000311394 benign not specified 2016-04-12 criteria provided, single submitter clinical testing
Invitae RCV001517156 SCV001725596 benign Atrial fibrillation, familial, 6 2020-12-04 criteria provided, single submitter clinical testing

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