ClinVar Miner

Submissions for variant NM_022095.4(ZNF335):c.808C>T (p.Arg270Cys)

gnomAD frequency: 0.00022  dbSNP: rs145110365
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000423287 SCV000511557 uncertain significance not provided 2016-09-29 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000503259 SCV000598058 uncertain significance not specified 2015-09-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000423287 SCV001051673 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
New York Genome Center RCV001838999 SCV002099106 uncertain significance Microcephalic primordial dwarfism due to ZNF335 deficiency 2021-03-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932551 SCV004753191 likely benign ZNF335-related disorder 2023-09-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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