ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.314T>G (p.Phe105Cys)

dbSNP: rs1057518919
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415024 SCV000492922 pathogenic Mental deterioration; Dementia 2015-02-06 criteria provided, single submitter clinical testing

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