ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.103C>T (p.Arg35Trp)

gnomAD frequency: 0.00004  dbSNP: rs746691776
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001090096 SCV001245560 uncertain significance Frontotemporal dementia; Primary degenerative dementia of the Alzheimer type, presenile onset 2019-10-28 criteria provided, single submitter research

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