ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.553C>T (p.Arg185Cys) (rs34758634)

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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 RCV000719066 SCV000849930 likely benign Seizures 2017-12-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Athena Diagnostics Inc RCV000189768 SCV000615828 likely benign not specified 2016-09-19 criteria provided, single submitter clinical testing
GeneDx RCV000189768 SCV000243416 likely benign not specified 2017-03-21 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 RCV000466705 SCV000559666 benign Neuronal ceroid lipofuscinosis 2018-01-05 criteria provided, single submitter clinical testing

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