ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.456C>T (p.Pro152=) (rs140326040)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720314 SCV000851191 likely benign Seizures 2016-08-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000187325 SCV000240907 benign not specified 2014-07-18 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 RCV000457386 SCV000555919 benign Neuronal ceroid lipofuscinosis 2017-12-29 criteria provided, single submitter clinical testing

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