ClinVar Miner

Submissions for variant NM_012470.4(TNPO3):c.-9G>A

gnomAD frequency: 0.00067  dbSNP: rs201636723
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000399732 SCV000337688 benign not specified 2015-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000399732 SCV000714889 likely benign not specified 2017-12-07 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.

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