ClinVar Miner

Submissions for variant NM_022095.4(ZNF335):c.1103-7G>A

gnomAD frequency: 0.20987  dbSNP: rs3746512
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519400 SCV001728266 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001519400 SCV001848450 benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243764 SCV002514196 benign Microcephalic primordial dwarfism due to ZNF335 deficiency 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001519400 SCV005313870 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000118908 SCV000153578 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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