ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2427G>A (p.Thr809=)

gnomAD frequency: 0.00016  dbSNP: rs2020960
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ClinVar version:
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 RCV000503360 SCV000594576 uncertain significance not specified 2015-11-18 criteria provided, single submitter clinical testing
Invitae RCV000651480 SCV000773332 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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