ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.594T>C (p.Gly198=)

gnomAD frequency: 0.00004  dbSNP: rs756643495
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436734 SCV000530657 likely benign not provided 2016-08-02 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001251326 SCV001426881 likely benign not specified 2020-07-25 criteria provided, single submitter clinical testing
Invitae RCV001506613 SCV001711538 likely benign Legius syndrome 2023-08-24 criteria provided, single submitter clinical testing

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