ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) (rs201998215)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592094 SCV000708791 uncertain significance not provided 2018-02-21 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764008 SCV000894960 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296483 SCV000358557 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349088 SCV000358558 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing

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