ClinVar Miner

Submissions for variant NM_018941.3(CLN8):c.661G>A (p.Gly221Ser) (rs386834136)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711267 SCV000841601 uncertain significance not provided 2017-12-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000711267 SCV000707192 uncertain significance not provided 2017-04-12 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050130 SCV000082540 probable-pathogenic Ceroid lipofuscinosis neuronal 8 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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