ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1538T>C (p.Leu513Pro)

dbSNP: rs1057520193
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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 RCV000433654 SCV000511730 uncertain significance not provided 2017-01-25 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.

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