ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.263C>G (p.Pro88Arg)

dbSNP: rs1897874329
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001261949 SCV001439300 pathogenic Frontotemporal dementia 2020-07-01 criteria provided, single submitter clinical testing

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