ClinVar Miner

Submissions for variant NM_021224.6(ZNF462):c.441C>A (p.Ser147=)

gnomAD frequency: 0.00331  dbSNP: rs140067056
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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 RCV000969052 SCV001116543 benign not provided 2018-05-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000969052 SCV004158489 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing ZNF462: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003960805 SCV004769852 benign ZNF462-related disorder 2019-07-10 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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