ClinVar Miner

Submissions for variant NM_022041.4(GAN):c.1086+71C>T

gnomAD frequency: 0.18756  dbSNP: rs12448327
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841652 SCV000983631 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.
Inherited Neuropathy Consortium RCV000789611 SCV000928975 benign not specified no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447229 SCV004174537 uncertain significance Giant axonal neuropathy 1 2020-12-22 no assertion criteria provided literature only

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