ClinVar Miner

Submissions for variant NM_001127255.1(NLRP7):c.2094C>T (p.His698=) (rs104895524)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000339188 SCV000334856 likely benign not specified 2015-09-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000083987 SCV000414694 uncertain significance Hydatidiform mole 2016-06-14 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083987 SCV000116109 not provided Hydatidiform mole no assertion provided not provided

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