ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.*411dup

gnomAD frequency: 0.00004  dbSNP: rs886058047
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000385561 SCV000441356 uncertain significance Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing

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