ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.293C>T (p.Thr98Met) (rs140726254)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717754 SCV000848613 uncertain significance Seizures 2018-02-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000186669 SCV000859381 likely benign not specified 2018-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000186669 SCV000169039 benign not specified 2013-07-03 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.
Genetic Services Laboratory, University of Chicago RCV000118653 SCV000153067 uncertain significance not provided 2014-02-27 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509378 SCV000607046 not provided Ceroid lipofuscinosis neuronal 2 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Illumina Clinical Services Laboratory,Illumina RCV000403303 SCV000373335 uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000234270 SCV000284806 benign Neuronal ceroid lipofuscinosis 2017-12-29 criteria provided, single submitter clinical testing

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