ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.4065T>G (p.Asp1355Glu)

gnomAD frequency: 0.00246  dbSNP: rs34917815
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251631 SCV000302378 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000251631 SCV000331397 benign not specified 2015-07-28 criteria provided, single submitter clinical testing
Invitae RCV000864612 SCV001005434 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000864612 SCV001812909 likely benign not provided 2021-06-10 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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