ClinVar Miner

Submissions for variant NM_003442.6(ZNF143):c.967+8T>C

gnomAD frequency: 0.00062  dbSNP: rs189191798
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002958720 SCV003278866 benign not provided 2024-11-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943638 SCV004763100 likely benign ZNF143-related disorder 2020-04-21 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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