ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.241G>T (p.Val81Phe)

dbSNP: rs55761944
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234335 SCV000288839 benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2024-01-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120817 SCV002065117 likely benign not specified 2021-11-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257431 SCV002537946 benign Xeroderma pigmentosum 2021-11-27 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315751 SCV004017495 likely benign Xeroderma pigmentosum, group F 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003415912 SCV004141165 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing ERCC4: BP4
ITMI RCV000120817 SCV000084982 not provided not specified 2013-09-19 no assertion provided reference population

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