ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.75C>T (p.Asn25=) (rs189308547)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718661 SCV000849525 likely benign Seizures 2017-05-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726583 SCV000345666 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000277916 SCV000721040 likely benign not specified 2017-07-10 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 RCV000473881 SCV000555924 benign Neuronal ceroid lipofuscinosis 2017-10-11 criteria provided, single submitter clinical testing

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