ClinVar Miner

Submissions for variant NM_014630.3(ZNF592):c.2238A>G (p.Gln746=)

gnomAD frequency: 0.75696  dbSNP: rs2241645
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001650973 SCV001862494 benign not provided 2018-11-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001650973 SCV005291992 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000118955 SCV000153625 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000610161 SCV000733479 benign Galloway-Mowat syndrome 1 no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000118955 SCV001967666 benign not specified no assertion criteria provided clinical testing

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