ClinVar Miner

Submissions for variant NM_022095.4(ZNF335):c.2595C>A (p.Asp865Glu)

gnomAD frequency: 0.04003  dbSNP: rs41280276
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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 RCV001512690 SCV001720149 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001512690 SCV001862657 benign not provided 2019-01-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243769 SCV002514187 benign Microcephalic primordial dwarfism due to ZNF335 deficiency 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001512690 SCV005313859 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000118915 SCV000153585 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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