ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.709T>C (p.Phe237Leu)

dbSNP: rs63750858
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002243711 SCV002512196 likely pathogenic Visual hallucination; Auditory hallucination; Dementia 2022-02-01 criteria provided, single submitter clinical testing ACMG classification criteria: PS3 supporting, PS4 moderate, PM2 moderate, PM5 supporting, PP1, PP3 supporting
VIB Department of Molecular Genetics, University of Antwerp RCV000084359 SCV000116495 not provided not provided no assertion provided not provided

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