ClinVar Miner

Submissions for variant NM_022095.4(ZNF335):c.1830C>G (p.Leu610=)

gnomAD frequency: 0.00009  dbSNP: rs60180055
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502713 SCV000598055 likely benign not specified 2017-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000977315 SCV001125230 benign not provided 2024-09-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244976 SCV002514193 benign Microcephalic primordial dwarfism due to ZNF335 deficiency 2021-12-05 criteria provided, single submitter clinical testing

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