ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.528A>G (p.Arg176=)

gnomAD frequency: 0.01480  dbSNP: rs4253027
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176986 SCV000228786 benign not specified 2015-05-27 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000176986 SCV000302381 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000298107 SCV000362977 benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000369229 SCV000362978 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277897 SCV000362979 benign COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001511174 SCV001718373 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001511174 SCV001948667 benign not provided 2019-05-20 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000176986 SCV001957576 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001511174 SCV001967223 likely benign not provided no assertion criteria provided clinical testing

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