ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.*121_*123del (rs371974858)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000339489 SCV000441049 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377640 SCV000441050 uncertain significance Renal-hepatic-pancreatic dysplasia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290297 SCV000441051 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing

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