ClinVar Miner

Submissions for variant NM_003361.3(UMOD):c.840C>T (p.Pro280=) (rs78691203)

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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 RCV000177174 SCV000229007 benign not specified 2014-05-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348323 SCV000395536 benign Uromodulin-associated kidney disease 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576450 SCV000677559 benign Familial juvenile gout; Autosomal dominant medullary cystic kidney disease with hyperuricemia 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000965325 SCV001112590 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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