ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.843+16C>T

gnomAD frequency: 0.05808  dbSNP: rs118017785
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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 RCV000248777 SCV000314116 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000248777 SCV000519434 benign not specified 2015-12-29 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.
Invitae RCV001512199 SCV001719569 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-02-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000248777 SCV001923579 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000248777 SCV001959829 benign not specified no assertion criteria provided clinical testing

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