ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.846G>A (p.Gly282=) (rs112021026)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000179834 SCV000168056 benign not specified 2014-05-16 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179834 SCV000232149 benign not specified 2015-05-01 criteria provided, single submitter clinical testing
Invitae RCV000525344 SCV000628956 benign Neuronal ceroid lipofuscinosis 2020-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715172 SCV000846000 benign Seizures 2016-08-03 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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