ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.45G>A (p.Glu15=) (rs201824641)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186617 SCV000167744 benign not specified 2013-04-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000186617 SCV000202484 benign not specified 2017-05-02 criteria provided, single submitter clinical testing
Invitae RCV000457718 SCV000560163 benign Neuronal ceroid lipofuscinosis 2017-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718547 SCV000849411 benign Seizures 2017-02-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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