ClinVar Miner

Submissions for variant NM_000122.2(ERCC3):c.-98A>G

gnomAD frequency: 0.00933  dbSNP: rs4150398
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000374936 SCV000483878 likely benign Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502416 SCV002805478 benign Xeroderma pigmentosum group B; Trichothiodystrophy 2, photosensitive 2021-07-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711031 SCV005262803 likely benign not provided criteria provided, single submitter not provided

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