ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.45A>G (p.Ser15=) (rs144141585)

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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 RCV000716567 SCV000847408 likely benign Seizures 2016-07-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
GeneDx RCV000187321 SCV000240903 benign not specified 2014-07-11 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.
Illumina Clinical Services Laboratory,Illumina RCV000399187 SCV000435211 likely benign Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000464307 SCV000555923 benign Neuronal ceroid lipofuscinosis 2017-12-07 criteria provided, single submitter clinical testing

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