ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3126-12dup (rs398124547)

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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 RCV000395874 SCV000441079 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305784 SCV000441080 uncertain significance Renal-hepatic-pancreatic dysplasia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360483 SCV000441081 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing

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