ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) (rs139029314)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720155 SCV000851032 uncertain significance Seizures 2017-06-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Athena Diagnostics Inc RCV000188204 SCV000614198 uncertain significance not specified 2017-03-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723909 SCV000203097 uncertain significance not provided 2014-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000188204 SCV000241811 likely benign not specified 2018-01-02 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 RCV000465416 SCV000562125 benign Lafora disease 2017-11-17 criteria provided, single submitter clinical testing

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