ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1905-28G>A

gnomAD frequency: 0.22729  dbSNP: rs1799800
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001611881 SCV001837812 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658329 SCV001876124 benign Fanconi anemia complementation group Q 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658328 SCV001876125 benign Xeroderma pigmentosum, group F 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658327 SCV001876126 benign XFE progeroid syndrome 2021-07-30 criteria provided, single submitter clinical testing

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