ClinVar Miner

Submissions for variant NM_022095.4(ZNF335):c.1646+8T>G

gnomAD frequency: 0.00194  dbSNP: rs543622714
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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 RCV000901085 SCV001045437 benign not provided 2023-08-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000901085 SCV005208790 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003910750 SCV004725898 likely benign ZNF335-related disorder 2023-03-30 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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