ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.831G>A (p.Val277=) (rs1142183)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124313 SCV000167741 benign not specified 2014-05-22 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.
PreventionGenetics,PreventionGenetics RCV000124313 SCV000306234 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725520 SCV000337486 uncertain significance not provided 2015-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718295 SCV000849157 likely benign Seizures 2017-02-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000725520 SCV001002019 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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