ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1771-5_1771-3del

dbSNP: rs767298881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607225 SCV000724067 likely benign not specified 2017-10-17 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 RCV001439471 SCV001642357 likely benign Saldino-Mainzer syndrome 2023-08-10 criteria provided, single submitter clinical testing

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