ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.389-5C>T

gnomAD frequency: 0.00006  dbSNP: rs377224276
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474414 SCV000559238 benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-12-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821351 SCV002071217 likely benign not specified 2019-09-17 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316607 SCV004017492 benign Xeroderma pigmentosum, group F 2023-07-07 criteria provided, single submitter clinical testing

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