ClinVar Miner

Submissions for variant NM_001127255.2(NLRP7):c.2471+1G>A

gnomAD frequency: 0.00005  dbSNP: rs104895505
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000001652 SCV005417744 pathogenic Hydatidiform mole, recurrent, 1 criteria provided, single submitter clinical testing PM2_Supporting+PM3_VeryStrong+PP4+PP1+PS3
OMIM RCV000001652 SCV000021808 pathogenic Hydatidiform mole, recurrent, 1 2006-03-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000001652 SCV000116132 not provided Hydatidiform mole, recurrent, 1 no assertion provided not provided

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