ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.300dup (p.Lys101Ter)

dbSNP: rs2140037322
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647233 SCV001519190 pathogenic Alzheimer disease 3 2021-01-04 criteria provided, single submitter research

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