ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.891+22T>C

gnomAD frequency: 0.50676  dbSNP: rs7302449
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000114235 SCV000314466 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000834347 SCV000976116 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001815184 SCV002062281 benign Meckel syndrome, type 8 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815185 SCV002062283 benign Joubert syndrome 24 2021-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000114235 SCV000147792 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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