ClinVar Miner

Submissions for variant NM_018941.3(CLN8):c.46C>A (p.Leu16Met) (rs386834129)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000265266 SCV000334637 uncertain significance not provided 2015-08-24 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000050122 SCV000845361 uncertain significance Ceroid lipofuscinosis neuronal 8 2018-08-07 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050122 SCV000082532 probable-pathogenic Ceroid lipofuscinosis neuronal 8 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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