ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1821+7C>T

gnomAD frequency: 0.84443  dbSNP: rs4253132
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170371 SCV000222786 benign not specified 2012-04-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000170371 SCV000302368 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000404616 SCV000362910 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000302397 SCV000362911 benign COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000357202 SCV000362912 benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514006 SCV001721737 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657937 SCV001876148 benign Cerebrooculofacioskeletal syndrome 1 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657935 SCV001876149 benign Cockayne syndrome type 2 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657936 SCV001876150 benign DE SANCTIS-CACCHIONE SYNDROME 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657938 SCV001876151 benign UV-sensitive syndrome 1 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001514006 SCV005319392 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000170371 SCV001741749 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000170371 SCV001957309 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000170371 SCV001968630 benign not specified no assertion criteria provided clinical testing

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