ClinVar Miner

Submissions for variant NM_001127255.2(NLRP7):c.-39-16C>T

gnomAD frequency: 0.38318  dbSNP: rs775886
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000084152 SCV000743611 benign Hydatidiform mole, recurrent, 1 2014-10-09 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV001293271 SCV001481863 benign Hydatidiform mole 2021-02-22 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV004716940 SCV005312819 benign not provided criteria provided, single submitter not provided
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084152 SCV000116283 not provided Hydatidiform mole, recurrent, 1 no assertion provided not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000084152 SCV000733925 benign Hydatidiform mole, recurrent, 1 no assertion criteria provided clinical testing

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