ClinVar Miner

Submissions for variant NM_015631.6(TCTN3):c.1453-28A>G

gnomAD frequency: 0.21461  dbSNP: rs12784530
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000834378 SCV000976147 benign not provided 2018-06-19 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.
Genome-Nilou Lab RCV001815443 SCV002062288 benign Joubert syndrome 18 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815484 SCV002062289 benign Orofacial-digital syndrome IV 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000834378 SCV005324115 benign not provided criteria provided, single submitter not provided

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