ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.180A>G (p.Pro60=) (rs749805002)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464150 SCV000560557 likely benign not provided 2016-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718590 SCV000849454 likely benign Seizures 2017-05-02 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001411224 SCV001613283 likely benign Neuronal ceroid lipofuscinosis 2016-10-30 criteria provided, single submitter clinical testing

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