ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.247-35G>A (rs1799783)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics 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
Nilou-Genome Lab RCV001658173 SCV001876110 benign Cerebrooculofacioskeletal syndrome 2 2021-07-30 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001658174 SCV001876112 benign Trichothiodystrophy 1, photosensitive 2021-07-30 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001658172 SCV001876113 benign Xeroderma pigmentosum, group D 2021-07-30 criteria provided, single submitter clinical testing

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