ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.*1867ACAG[1]

dbSNP: rs563773430
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000271117 SCV000388160 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000326067 SCV000388161 uncertain significance Early-onset autosomal dominant Alzheimer disease 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262986 SCV002545189 benign not provided 2022-05-01 criteria provided, single submitter clinical testing PSEN1: BS1, BS2

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