ClinVar Miner

Submissions for variant NM_000082.4(ERCC8):c.797A>G (p.Asp266Gly)

gnomAD frequency: 0.00001  dbSNP: rs281875225
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266293 SCV001444466 pathogenic Inborn genetic diseases 2015-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005042185 SCV005673540 likely pathogenic Cockayne syndrome type 1; UV-sensitive syndrome 2 2024-01-22 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059651 SCV000091221 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000059651 SCV001809768 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000059651 SCV001968375 likely pathogenic not provided no assertion criteria provided clinical testing

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