ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.868+16G>T

gnomAD frequency: 0.61457  dbSNP: rs165932
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250323 SCV000301542 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513933 SCV001721639 benign Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001682946 SCV001903121 benign not provided 2018-09-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18403054, 17719017, 8596269, 28554858)
Genome-Nilou Lab RCV001789241 SCV002031983 benign Acne inversa, familial, 3 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789239 SCV002031984 benign Alzheimer disease 3 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789240 SCV002031985 benign Dilated cardiomyopathy 1U 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789237 SCV002031987 benign Frontotemporal dementia 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789238 SCV002031988 benign Pick disease 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001682946 SCV005291607 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000250323 SCV001744202 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000250323 SCV001807021 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000250323 SCV001926056 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000250323 SCV001964070 benign not specified no assertion criteria provided clinical testing

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