ClinVar Miner

Submissions for variant NM_017757.3(ZNF407):c.181A>G (p.Ser61Gly)

gnomAD frequency: 0.01776  dbSNP: rs75994611
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000118934 SCV000258114 benign not specified 2015-02-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716981 SCV005310441 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000118934 SCV000153604 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.
PreventionGenetics, part of Exact Sciences RCV003925165 SCV004739234 benign ZNF407-related disorder 2019-04-10 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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