ClinVar Miner

Submissions for variant NM_153033.5(KCTD7):c.133C>T (p.Leu45=)

gnomAD frequency: 0.00016  dbSNP: rs587780370
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117375 SCV000151558 uncertain significance not provided 2014-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000443023 SCV000513391 likely benign not specified 2015-11-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001082414 SCV000646343 likely benign Progressive myoclonic epilepsy type 3 2024-10-29 criteria provided, single submitter clinical testing

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