ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.1013-29C>T

gnomAD frequency: 0.00012  dbSNP: rs745834081
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188760 SCV000242384 benign not specified 2014-06-19 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.
CeGaT Center for Human Genetics Tuebingen RCV000996252 SCV001150892 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737292 SCV005355821 likely benign PRRT2-related disorder 2024-06-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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