ClinVar Miner

Submissions for variant NM_017757.3(ZNF407):c.1263C>T (p.Leu421=)

gnomAD frequency: 0.11505  dbSNP: rs17817969
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001762244 SCV001989372 benign not provided 2021-08-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118931 SCV000153601 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.

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