ClinVar Miner

Submissions for variant NM_022095.4(ZNF335):c.1963C>T (p.Pro655Ser)

gnomAD frequency: 0.00636  dbSNP: rs117132825
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192763 SCV000249497 uncertain significance not specified 2014-07-24 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000426939 SCV000510882 likely benign not provided 2017-01-27 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000426939 SCV001781959 likely benign not provided 2023-07-25 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV000426939 SCV002377427 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917780 SCV004735856 benign ZNF335-related disorder 2019-04-05 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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