ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1497T>C (p.Pro499=) (rs142672910)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718582 SCV000849446 likely benign Seizures 2017-05-03 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)
Athena Diagnostics Inc RCV000713861 SCV000844499 benign not provided 2018-05-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000125596 SCV000345177 likely benign not specified 2017-04-12 criteria provided, single submitter clinical testing
GeneDx RCV000125596 SCV000169053 benign not specified 2013-05-24 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 RCV000557077 SCV000628907 benign Neuronal ceroid lipofuscinosis 2017-12-29 criteria provided, single submitter clinical testing

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