ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) (rs55698015)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725973 SCV000340926 uncertain significance not provided 2016-05-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304579 SCV000362894 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358004 SCV000362895 likely benign COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263243 SCV000362896 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000725973 SCV000590359 uncertain significance not provided 2019-08-21 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000725973 SCV001019864 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000725973 SCV001714948 uncertain significance not provided 2019-09-08 criteria provided, single submitter clinical testing

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