ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.247-35G>A

gnomAD frequency: 0.64393  dbSNP: rs1799783
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250105 SCV000304035 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001618382 SCV001844186 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658173 SCV001876110 benign Cerebrooculofacioskeletal syndrome 2 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658174 SCV001876112 benign Trichothiodystrophy 1, photosensitive 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658172 SCV001876113 benign Xeroderma pigmentosum, group D 2021-07-30 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001658172 SCV004017470 benign Xeroderma pigmentosum, group D 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618382 SCV005310403 benign not provided criteria provided, single submitter not provided

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