ClinVar Miner

Submissions for variant NM_018941.3(CLN8):c.806A>T (p.Glu269Val) (rs139003032)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723601 SCV000229158 uncertain significance not provided 2015-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000187131 SCV000240707 likely benign not specified 2017-10-26 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.
Invitae RCV001084070 SCV000560190 benign Neuronal ceroid lipofuscinosis 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515342 SCV000611460 uncertain significance Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant; Neuronal ceroid lipofuscinosis 8 2017-05-23 criteria provided, single submitter clinical testing
Counsyl RCV000670572 SCV000795440 uncertain significance Neuronal ceroid lipofuscinosis 8 2017-11-14 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000670572 SCV001133075 likely pathogenic Neuronal ceroid lipofuscinosis 8 2019-09-26 no assertion criteria provided clinical testing

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