ClinVar Miner

Submissions for variant NC_000015.9:g.68504037_68504039delGAT (rs121908080)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000004298 SCV000794168 likely pathogenic Ceroid lipofuscinosis neuronal 6 2017-09-18 criteria provided, single submitter clinical testing
GeneReviews RCV000004298 SCV000086974 pathologic Ceroid lipofuscinosis neuronal 6 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000004298 SCV000024464 pathogenic Ceroid lipofuscinosis neuronal 6 2003-05-01 no assertion criteria provided literature only
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism RCV000004298 SCV000804305 pathogenic Ceroid lipofuscinosis neuronal 6 no assertion criteria provided research Late Infantile NCL

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