ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.1270C>G (p.Leu424Val)

dbSNP: rs1555358260
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995205 SCV001149256 likely pathogenic not provided 2017-03-01 criteria provided, single submitter clinical testing
Department Of Medical Genetics, Medical University Pleven RCV000790841 SCV000930008 likely pathogenic Alzheimer disease 3 2018-11-21 no assertion criteria provided clinical testing

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