ClinVar Miner

Submissions for variant NM_000124.3(ERCC6):c.1274A>C (p.Asp425Ala) (rs4253046)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733377 SCV000861442 uncertain significance not provided 2018-05-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364031 SCV000362938 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266947 SCV000362939 likely benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324334 SCV000362940 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing

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