ClinVar Miner

Submissions for variant NM_001493.3(GDI1):c.46-11C>A

gnomAD frequency: 0.00186  dbSNP: rs185552165
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000423051 SCV000510621 likely benign not provided 2017-01-02 criteria provided, single submitter clinical testing Converted during submission to Likely benign.

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