ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.409G>A (p.Ala137Thr) (rs1566630884)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Group at Institute of Prion Diseases London,University College London RCV000736260 SCV000864557 likely pathogenic Frontotemporal dementia 2017-02-01 criteria provided, single submitter research not on molgen, but in mutation hotspot. Not on exac, not on exome variant server. In silico predictions conflicting

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