ClinVar Miner

Submissions for variant NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn)

gnomAD frequency: 0.27524  dbSNP: rs8182086
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719878 SCV001947150 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001719878 SCV005291996 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000118956 SCV000153626 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 RCV000615836 SCV000733480 benign Galloway-Mowat syndrome 1 no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000118956 SCV001971050 benign not specified no assertion criteria provided clinical testing

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