ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.1237+5G>C

dbSNP: rs761017664
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002259222 SCV002531545 uncertain significance Xeroderma pigmentosum 2021-11-22 criteria provided, single submitter curation

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