ClinVar Miner

Submissions for variant NM_018941.3(CLN8):c.470A>G (p.His157Arg) (rs149308952)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192707 SCV000247046 likely pathogenic Ceroid lipofuscinosis neuronal 8 2015-06-22 criteria provided, single submitter clinical testing
Counsyl RCV000192707 SCV001132159 uncertain significance Ceroid lipofuscinosis neuronal 8 2016-07-21 no assertion criteria provided clinical testing

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