ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) (rs191602135)

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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 RCV000175082 SCV000226510 benign not specified 2015-04-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335529 SCV000358492 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371477 SCV000358493 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000862330 SCV001002823 benign not provided 2018-12-24 criteria provided, single submitter clinical testing

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