ClinVar Miner

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

gnomAD frequency: 0.00008  dbSNP: 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 Primary dilated cardiomyopathy; Heart failure 2018-04-05 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000877625 SCV001020392 likely benign Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 2021-12-12 criteria provided, single submitter clinical testing
OMIM RCV000019786 SCV000040084 pathogenic Dilated cardiomyopathy 1U 2006-12-01 no assertion criteria provided literature only

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