ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1736-18C>T

gnomAD frequency: 0.00022  dbSNP: rs199612826
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241561 SCV000314092 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000241561 SCV000531344 likely benign not specified 2017-03-03 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 RCV001519267 SCV001728106 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001519267 SCV002806012 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2021-09-23 criteria provided, single submitter clinical testing

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