ClinVar Miner

Submissions for variant NM_017757.3(ZNF407):c.6007G>A (p.Glu2003Lys)

gnomAD frequency: 0.00602  dbSNP: rs150419019
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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 RCV000194709 SCV000249530 likely benign not specified 2015-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000954314 SCV001100939 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954314 SCV004138904 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing ZNF407: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000954314 SCV005209721 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003917781 SCV004733354 likely benign ZNF407-related disorder 2024-02-27 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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