ClinVar Miner

Submissions for variant NM_022095.4(ZNF335):c.2986A>G (p.Thr996Ala)

gnomAD frequency: 0.00316  dbSNP: rs146217460
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884910 SCV001028316 benign not provided 2024-11-19 criteria provided, single submitter clinical testing
GeneDx RCV000884910 SCV002818831 likely benign not provided 2023-01-06 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV003975568 SCV004794313 likely benign ZNF335-related disorder 2024-01-05 no assertion criteria provided 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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