ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly) (rs121917809)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171844 SCV000054833 uncertain significance Heart failure; Dilated cardiomyopathy 2018-04-05 criteria provided, single submitter research
Invitae RCV000877625 SCV001020392 likely benign Alzheimer disease, type 3; Frontotemporal dementia; Pick's disease; Acne inversa, familial, 3 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000019786 SCV000040084 pathogenic Cardiomyopathy, dilated, 1u 2006-12-01 no assertion criteria provided literature only

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