ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.471A>G (p.Lys157=)

gnomAD frequency: 0.00014  dbSNP: rs3136092
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499897 SCV000594571 uncertain significance not specified 2015-11-18 criteria provided, single submitter clinical testing
Invitae RCV002060112 SCV002394189 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2024-01-29 criteria provided, single submitter clinical testing

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