ClinVar Miner

Submissions for variant NM_001127255.2(NLRP7):c.2078G>A (p.Arg693Gln)

gnomAD frequency: 0.00003  dbSNP: rs104895502
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000001658 SCV002018342 pathogenic Hydatidiform mole, recurrent, 1 2019-12-27 criteria provided, single submitter clinical testing
OMIM RCV000001658 SCV000021814 pathogenic Hydatidiform mole, recurrent, 1 2009-08-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000001658 SCV000116107 not provided Hydatidiform mole, recurrent, 1 no assertion provided not provided

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