ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3125+7dup (rs11396595)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246352 SCV000316270 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270422 SCV000441082 benign Renal-hepatic-pancreatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325516 SCV000441083 benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366390 SCV000441084 benign Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000246352 SCV000728821 benign not specified 2018-03-17 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.

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